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Prof. Dr. med. Ulrike Schara

Die folgenden Publikationen sind in der Online-Universitätsbibliographie der Universität Duisburg-Essen verzeichnet. Weitere Informationen finden Sie gegebenenfalls auch auf den persönlichen Webseiten der Person.

    Artikel in Zeitschriften

  • Vill, Katharina; Tacke, Moritz; König, Anna; Baumann, Matthias; Baumgartner, Manuela; Steinbach, Meike; Bernert, Guenther; Blaschek, Astrid; Deschauer, Marcus; Flotats-Bastardas, Marina; Friese, Johannes; Goldbach, Susanne; Gross, Martin; Günther, René; Hahn, Andreas; Hagenacker, Tim; Hauser, Erwin; Horber, Veronka; Illsinger, Sabine; Johannsen, Jessika; Kamm, Christoph; Koch, Jan C.; Koelbel, Heike; Koehler, Cornelia; Kolzter, Kirsten; Lochmüller, Hanns; Ludolph, Albert; Mensch, Alexander; Meyer zu Hoerste, Gerd; Mueller, Monika; Mueller-Felber, Wolfgang; Neuwirth, Christoph; Petri, Susanne; Probst-Schendzielorz, Kristina; Pühringer, Manuel; Steinbach, Robert; Schara-Schmidt, Ulrike; Schimmel, Mareike; Schrank, Bertold; Schwartz, Oliver; Schlachter, Kurt; Schwerin-Nagel, Annette; Schreiber, Gudrun; Smitka, Martin; Topakian, Raffi; Trollmann, Regina; Tuerk, Matthias; Theophil, Manuela; Rauscher, Christian; Vorgerd, Mathias; Walter, Maggie C.; Weiler, Markus; Weiss, Claudia; Wilichowski, Ekkehard; Wurster, Claudia D.; Wunderlich, Gilbert; Zeller, Daniel; Ziegler, Andreas; Kirschner, Janbernd; Pechmann, Astrid
    5qSMA: standardised retrospective natural history assessment in 268 patients with four copies of SMN2
    In: Journal of Neurology (2024) in press
    Online Volltext: dx.doi.org/ (Open Access)
  • Roos, Andreas; Schmitt, Linda-Isabell; Hansmann, Christina; Hezel, Stefanie; Salmanian, Schahin; Hentschel, Andreas; Meyer, Nancy; Marina, Adela Della; Kölbel, Heike; Kleinschnitz, Christoph; Schara-Schmidt, Ulrike; Leo, Markus; Hagenacker, Tim
    Alteration of LARGE1 abundance in patients and a mouse model of 5q-associated spinal muscular atrophy
    In: Acta Neuropathologica Jg. 147 (2024) Nr. 1, 53
    Online Volltext: dx.doi.org/ (Open Access)
  • Hagenacker, Tim; Schara-Schmidt, Ulrike
    Gene replacement therapy in spinal muscular atrophy: filling the data gaps
    In: The Lancet Regional Health - Europe Jg. 37 (2024) 100822
    Online Volltext: dx.doi.org/ (Open Access)
  • Kölbel, Heike; Kopka, Marius; Modler, Laura; Blaschek, Astrid; Schara-Schmidt, Ulrike; Vill, Katharina; Schwartz, Oliver; Müller-Felber, Wolfgang
    Impaired Neurodevelopment in Children with 5q-SMA - 2 Years After Newborn Screening
    In: Journal of Neuromuscular Diseases Jg. 11 (2024) Nr. 1, S. 143 - 151
    Online Volltext: dx.doi.org/ (Open Access)
  • Günther, René; Wurster, Claudia Diana; Brakemeier, Svenja; Osmanovic, Alma; Schreiber-Katz, Olivia; Petri, Susanne; Uzelac, Zeljko; Hiebeler, Miriam; Thiele, Simone; Walter, Maggie C.; Weiler, Markus; Kessler, Tobias; Freigang, Maren; Lapp, Hanna Sophie; Cordts, Isabell; Lingor, Paul; Deschauer, Marcus; Hahn, Andreas; Martakis, Kyriakos; Steinbach, Robert; Ilse, Benjamin; Rödiger, Annekathrin; Bellut, Julia; Nentwich, Julia; Zeller, Daniel; Muhandes, Mohamad Tareq; Baum, Tobias; Christoph Koch, Jan; Schrank, Bertold; Fischer, Sophie; Hermann, Andreas; Kamm, Christoph; Naegel, Steffen; Mensch, Alexander; Weber, Markus; Neuwirth, Christoph; Lehmann, Helmar C.; Wunderlich, Gilbert; Stadler, Christian; Tomforde, Maike; George, Annette; Groß, Martin; Pechmann, Astrid; Kirschner, Janbernd; Türk, Matthias; Schimmel, Mareike; Bernert, Günther; Martin, Pascal; Rauscher, Christian; Meyer zu Hörste, Gerd; Baum, Petra; Löscher, Wolfgang; Flotats-Bastardas, Marina; Köhler, Cornelia; Probst-Schendzielorz, Kristina; Goldbach, Susanne; Schara-Schmidt, Ulrike; Müller-Felber, Wolfgang; Lochmüller, Hanns; von Velsen, Otgonzul; Kleinschnitz, Christoph; Ludolph, Albert C.; Hagenacker, Tim
    Long-term efficacy and safety of nusinersen in adults with 5q spinal muscular atrophy : a prospective European multinational observational study
    In: The Lancet Regional Health - Europe Jg. 39 (2024) 100862
    Online Volltext: dx.doi.org/ (Open Access)
  • Pugliese, Alessia; Della Marina, Adela; de Paula Estephan, Eduardo; Zanoteli, Edmar; Roos, Andreas; Schara-Schmidt, Ulrike; Hentschel, Andreas; Azuma, Yoshiteru; Töpf, Ana; Thompson, Rachel; Polavarapu, Kiran; Lochmüller, Hanns
    Mutations in PTPN11 could lead to a congenital myasthenic syndrome phenotype : A Noonan syndrome case series
    In: Journal of Neurology Jg. 271 (2024) Nr. 3, S. 1331 - 1341
    Online Volltext: dx.doi.org/
  • Bullivant, Joanne; Sen, Anando; Page, Jess; Graham, Robert J.; Jungbluth, Heinz; Schara-Schmidt, Ulrike; Lynch, Orla; Bönnemann, Carsten; Hollander, Aart den; Lennox, Anne; Moat, Dionne; Saegert, Claudia; Amburgey, Kimberly; Buj-Bello, Ana; Dowling, James J.; Marini-Bettolo, Chiara
    The myotubular and centronuclear myopathy patient registry : a multifunctional tool for translational research
    In: Neuromuscular Disorders Jg. 35 (2024) S. 42 - 52
    Online Volltext: dx.doi.org/ (Open Access)
  • Hentschel, Andreas; Meyer, Nancy; Kohlschmidt, Nicolai; Groß, Claudia; Sickmann, Albert; Schara-Schmidt, Ulrike; Förster, Fabian; Töpf, Ana; Christiansen, Jon; Horvath, Rita; Vorgerd, Matthias; Thompson, Rachel; Polaparapu, Kiran; Lochmüller, Hanns; Preusse, Corinna; Hannappel, Luis; Schänzer, Anne; Grüneboom, Anika; Gangfuß, Andrea; Roos, Andreas; Polavarapu, Kiran
    A Homozygous PPP1R21 Splice Variant Associated with Severe Developmental Delay, Absence of Speech, and Muscle Weakness Leads to Activated Proteasome Function
    In: Molecular Neurobiology Jg. 60 (2023) S. 2602 - 2618
    Online Volltext: dx.doi.org/ (Open Access)
  • Roos, Andreas; van der Ven, Peter F M; Alrohaif, Hadil; Kölbel, Heike; Heil, Lorena; Della Marina, Adela; Weis, Joachim; Aßent, Marvin; Beck-Wödl, Stefanie; Barresi, Rita; Töpf, Ana; O'Connor, Kaela; Sickmann, Albert; Kohlschmidt, Nicolai; El Gizouli, Magdeldin; Meyer, Nancy; Daya, Nassam; Grande, Valentina; Bois, Karin; Kaiser, Frank J.; Vorgerd, Matthias; Schröder, Christopher; Schara-Schmidt, Ulrike; Gangfuss, Andrea; Evangelista, Teresinha; Röbisch, Luisa; Hentschel, Andreas; Grüneboom, Anika; Fuerst, Dieter O.; Küchler, Alma; Tzschach, Andreas; Depienne, Christel; Lochmüller, Hanns; O’Connor, Kaela
    Bi-allelic variants of FILIP1 cause congenital myopathy, dysmorphism and neurological defects
    In: Brain: A Journal of Neurology Jg. 146 (2023) Nr. 10, S. 4200 - 4216
    Online Volltext: dx.doi.org/
  • Hentschel, Andreas; Meyer, Nancy; Kohlschmidt, Nicolai; Groß, Claudia; Sickmann, Albert; Schara-Schmidt, Ulrike; Förster, Fabian; Töpf, Ana; Christiansen, Jon; Horvath, Rita; Vorgerd, Matthias; Thompson, Rachel; Polavarapu, Kiran; Lochmüller, Hanns; Preusse, Corinna; Hannappel, Luis; Schänzer, Anne; Grüneboom, Anika; Gangfuß, Andrea; Roos, Andreas
    Correction: A Homozygous PPP1R21 Splice Variant Associated with Severe Developmental Delay, Absence of Speech, and Muscle Weakness Leads to Activated Proteasome Function
    In: Molecular Neurobiology Jg. 60 (2023) Nr. 7, S. 4164 - 4164
    Online Volltext: dx.doi.org/ (Open Access)
  • Pechmann, Astrid; Behrens, Max; Dörnbrack, Katharina; Tassoni, Adrian; Stein, Sabine; Vogt, Sibylle; Zöller, Daniela; Bernert, Günther; Hagenacker, Tim; Schara-Schmidt, Ulrike; Schwersenz, Inge; Walter, Maggie C.; Baumann, Matthias; Baumgartner, Manuela; Deschauer, Marcus; Eisenkölbl, Astrid; Flotats-Bastardas, Marina; Hahn, Andreas; Horber, Veronka; Husain, Ralf A.; Illsinger, Sabine; Johannsen, Jessika; Köhler, Cornelia; Kölbel, Heike; Müller, Monika; von Moers, Arpad; Schlachter, Kurt; Schreiber, Gudrun; Schwartz, Oliver; Smitka, Martin; Steiner, Elisabeth; Stögmann, Eva; Trollmann, Regina; Vill, Katharina; Weiß, Claudia; Wiegand, Gert; Ziegler, Andreas; Lochmüller, Hanns; Kirschner, Janbernd; Abele, Thea Beatrice; Andres, Barbara; Angelova-Toshkina, Daniela; Baum, Petra; Baum, Tobias; Baur, Ute; Becker, Benedikt; Behring, Bettina; Birsak, Theresa; Bellut, Julia; Bertsche, Astrid; Blankenburg, Markus; Blaschek, Astrid; Braun, Nathalie; Braun, Sarah; Burgenmeister, Nadine; Claus, Nicole; Cordts, Isabell; de Vries, Heike; Deba, Timo; Marina, Adela Della; Denecke, Jonas; Driemeyer, Joenna; Eckenweiler, Matthias; Fiedler, Barbara; Fischer, Michal; Freigang, Maren; Friese, Johannes; Gaiser, Philippa; Gebert, Axel; Geitmann, Stephanie; Goldhahn, Klaus; Grässl, Michael; Gröning, Kristina; Grosskreutz, Julian; Gruber-Sedlmayr, Ursula; Guillemot, Helene; Günther, René; von der Hagen, Maja; Hartmann, Hans; Hiebeler, Miriam; Hobbiebrunken, Elke; Hoffmann, Georg Friedrich; Holtkamp, Britta; Holzwarth, Dorothea; Jansen, Eva; Kaindl, Angela; Kaiser, Nadja; Klamroth, Jennifer; Koch, Jan Christoph; Koelker, Stefan; Kolzter, Kirsten; Korschinsky, Brigitte; Küpper, Hanna; Langer, Thorsten; Lehnert, Ilka; Lingor, Paul; Löscher, Wolfgang N; Loudovici-Krug, Dana; Martakis, Kyriakos; Mayer, Iris; Metelmann, Moritz; Meyer, Sascha; Mueller-Kaempffer, Katharina; Müller, Petra; Müller-Felber, Wolfgang; Neuwirth, Christoph; Niederschweiberer, Johanna; Nolte, Anja; Odorfer, Thorsten; Omran, Heymut; Pauschek, Josefine; Pickrodt, Katrin; Plecko, Barbara; Pühringer, Manuel; Quinten, Anna Lisa; Rappold, Mika; Reihle, Christof; Reinhardt, Tabea; Rödiger, Annekathrin; Roetmann, Gerda; Saffari, Afshin; Schimmel, Mareike; Schneider, Joanna; Schoene-Bake, Christoph; Schorling, David; Schwerin-Nagel, Anette; Steinbach, Robert; Steuernagel, Daniela; Stolte, Benjamin; Stoltenburg, Corinna; Stüve, Burkhard; Theophil, Manuela; Thiele, Simone; Topakian, Raffi; Türk, Matthias; van der Stam, Lieske; Vollmann, Peter; Warken, Birgit; Weber, Markus; Weiler, Markus; Weiss, Deike; Weiss, Simone; Wenzel, Franziska; Wider, Sabine; Wiebe, Nils; Wilichowski, Ekkehard; Wilken, Bernd; Wochner, Katarzyna; Zeiner, Fiona; Zeisler, Daniela; Zeller, Daniel; Zemlin, Michael
    Effect of nusinersen on motor, respiratory and bulbar function in early-onset spinal muscular atrophy
    In: Brain: A Journal of Neurology Jg. 146 (2023) Nr. 2, S. 668 - 677
    Online Volltext: dx.doi.org/
  • Johannsen, Jessika; Weiss, Deike; Driemeyer, Joenna; Olfe, Jakob; Stute, Fridrike; Müller, Ferdinand; Schütt, Marion; Trollmann, Regina; Kölbel, Heike; Schara-Schmidt, Ulrike; Kirschner, Janbernd; Pechmann, Astrid; Blaschek, Astrid; Horber, Veronka; Denecke, Jonas
    High-sensitive cardiac troponin I (hs-cTnI) concentrations in newborns diagnosed with spinal muscular atrophy
    In: Frontiers in Pediatrics Jg. 11 (2023) 1259293
    Online Volltext: dx.doi.org/ (Open Access)
  • Pechmann, Astrid; Behrens, Max; Dörnbrack, Katharina; Tassoni, Adrian; Wenzel, Franziska; Stein, Sabine; Vogt, Sibylle; Zöller, Daniela; Bernert, Günther; Hagenacker, Tim; Schara-Schmidt, Ulrike; Walter, Maggie C.; Steinbach, Meike; Blaschek, Astrid; Baumann, Matthias; Baumgartner, Manuela; Becker, Benedikt; Flotats-Bastardas, Marina; Friese, Johannes; Günther, Rene; Hahn, Andreas; Küpper, Hanna; Johannsen, Jessika; Kamm, Christoph; Koch, Jan Christoph; Köhler, Cornelia; Kölbel, Heike; Kolzter, Kirsten; Von Moers, Arpad; Naegel, Steffen; Neuwirth, Christoph; Petri, Susanne; Rödiger, Annekathrin; Schimmel, Mareike; Schrank, Bertold; Schreiber, Gudrun; Smitka, Martin; Stadler, Christian; Steiner, Elisabeth; Stögmann, Eva; Trollmann, Regina; Türk, Matthias; Weiler, Markus; Stoltenburg, Corinna; Willichowsky, Ekkehard; Zeller, Daniel; Ziegler, Andreas; Lochmüller, Hanns; Kirschner, Janbernd
    Improvements in Walking Distance during Nusinersen Treatment : A Prospective 3-year SMArtCARE Registry Study
    In: Journal of Neuromuscular Diseases Jg. 10 (2023) Nr. 1, S. 29 - 40
    Online Volltext: dx.doi.org/ (Open Access)
  • Unger, Andreas; Roos, Andreas; Gangfuß, Andrea; Hentschel, Andreas; Gläser, Dieter; Krause, Karsten; Doering, Kristina; Schara-Schmidt, Ulrike; Hoffjan, Sabine; Vorgerd, Matthias; Güttsches, Anne-Katrin
    Microscopic and Biochemical Hallmarks of BICD2-Associated Muscle Pathology toward the Evaluation of Novel Variants
    In: International Journal of Molecular Sciences (IJMS) Jg. 24 (2023) Nr. 7, 6808
    Online Volltext: dx.doi.org/ (Open Access)
  • Bremer, Juliane; Meinhardt, Axel; Katona, Istvan; Senderek, Jan; Kämmerer-Gassler, Elke K.; Roos, Andreas; Ferbert, Andreas; Schröder, J. Michael; Nikolin, Stefan; Nolte, Kay; Sellhaus, Bernd; Popzhelyazkova, Klimentina; Tacke, Frank; Schara-Schmidt, Ulrike; Neuen-Jacob, Eva; de Groote, Chantal Ceuterick; de Jonghe, Peter; Timmerman, Vincent; Baets, Jonathan; Weis, Joachim
    Myelin protein zero mutation-related hereditary neuropathies : Neuropathological insight from a new nerve biopsy cohort
    In: Brain Pathology (2023) e13200 in press
    Online Volltext: dx.doi.org/ (Open Access)
  • Müller-Felber, Wolfgang; Blaschek, Astrid; Schwartz, Oliver; Gläser, Dieter; Nennstiel, Uta; Brockow, Inken; Wirth, Brunhilde; Burggraf, Siegfried; Röschinger, Wulf; Becker, Marc; Durner, Jürgen; Eggermann, Katja; Kölbel, Heike; Müller, Christine; Hannibal, Iris; Olgemöller, Bernd; Schara, Ulrike; Von Moers, Arpad; Trollmann, Regina; Johannssen, Jessika; Ziegler, Andreas; Cirak, Sebahattin; Hahn, Andreas; Von Der Hagen, Maja; Weiss, Claudia; Schreiber, Gudrun; Flotats-Bastardas, Marina; Hartmann, Hans; Illsinger, Sabine; Pechmann, Astrid; Horber, Veronka; Kirschner, Jan; Köhler, Cornelia; Winter, Benedikt; Friese, Johannes; Vill, Katharina
    Newbornscreening SMA : From Pilot Project to Nationwide Screening in Germany
    In: Journal of Neuromuscular Diseases Jg. 10 (2023) Nr. 1, S. 55 - 65
    Online Volltext: dx.doi.org/ (Open Access)
  • Göbel, Juliane; Schult, Karolin; Schara, Ulrike; Neudorf, Ulrich; Forsting, Michael; Schlosser, Thomas Wilfried; Naßenstein, Kai
    Patterns of cardiac involvement in different muscular dystrophies assessed by magnetic resonance imaging
    In: Acta Radiologica Jg. 64 (2023) Nr. 2, S. 605 - 611
    Online Volltext: dx.doi.org/
  • Nguyen, Chi D. L.; Jimenez-Moreno, Aura Cecilia; Merker, Monika; Bowers, Charles Joseph; Nikolenko, Nikoletta; Hentschel, Andreas; Müntefering, Thomas; Isham, Angus; Ruck, Tobias; Vorgerd, Matthias; Dobelmann, Vera; Gourdon, Genevieve; Schara-Schmidt, Ulrike; Gangfuss, Andrea; Schröder, Charlotte; Sickmann, Albert; Gross, Claudia; Gorman, Grainne; Stenzel, Werner; Kollipara, Laxmikanth; Hathazi, Denisa; Spendiff, Sally; Gagnon, Cynthia; Preusse, Corinna; Duchesne, Elise; Lochmüller, Hanns; Roos, Andreas
    Periostin as a blood biomarker of muscle cell fibrosis, cardiomyopathy and disease severity in myotonic dystrophy type 1
    In: Journal of Neurology Jg. 270 (2023) Nr. 6, S. 3138 - 3158
    Online Volltext: dx.doi.org/ (Open Access)
  • Bruns, Nora; Schara-Schmidt, Ulrike; Dohna-Schwake, Christian
    Pädiatrische Neurointensivmedizin
    In: Der Nervenarzt Jg. 94 (2023) Nr. 2, S. 75 - 83
    Online Volltext: dx.doi.org/ (Open Access)
  • Stascheit, Frauke; Grittner, Ulrike; Hoffmann, Sarah; Mergenthaler, Philipp; Schroeter, Michael; Ruck, Tobias; Pawlitzki, Mark; Blaes, Franz; Kaiser, Julia; Schara, Ulrike; Della-Marina, Adela; Thieme, Andrea; Hagenacker, Tim; Jacobi, Christian; Berger, Benjamin; Urban, Peter P.; Knop, Karl Christian; Schalke, Berthold; Lee, De-Hyung; Kalischewski, Petra; Wiendl, Heinz; Meisel, Andreas
    Risk and course of COVID-19 in immunosuppressed patients with myasthenia gravis
    In: Journal of Neurology Jg. 270 (2023) Nr. 1, S. 1 - 12
    Online Volltext: dx.doi.org/ (Open Access)
  • Henzi, Bettina C.; Schmidt, Simone; Nagy, Sara; Rubino-Nacht, Daniela; Schaedelin, Sabine; Putananickal, Niveditha; Stimpson, Georgia; Amthor, Helge; Childs, Anne-Marie; Deconinck, Nicolas; de Groot, Imelda; Horrocks, Iain; Houwen-van Opstal, Saskia; Laugel, Vincent; Lopez Lobato, Mercedes; Madruga Garrido, Marcos; Nascimento Osorio, Andrés; Schara-Schmidt, Ulrike; Spinty, Stefan; von Moers, Arpad; Lawrence, Fiona; Hafner, Patricia; Dorchies, Olivier M.; Fischer, Dirk; Ridout, Deborah; Muntoni, Francesco; Manzur, Adnan.; Quinlivan, Rosaline; Baranello, Giovanni; Main, Marion; Abbott, Lianne; Burnett, Nicola; Rohwer, Anne-Marie; Milev, Evelin; Wolfe, Adrian; .O'Reilly, Emer; Straub, Volker; Guglieri, Michela; Bettolo, Chiara; Muni-Lofra, Robert; James, Meredith; Sodhi, Jassi; Willis, Tracey; Wright, Elizabeth; Rylance, Claire; Birchall, Nicola; Pysden, Karen; Martos-Lozano, Cristina; Pallant, Lindsey; Wadsworth, Steph; Madhu, Rajesh; Karuvattil, Rajesh; Gregson, Sarah; Clark, Stuart; Wraige, Elizabeth; Jungbluth, Heinz; Gowda, Vasantha; Vanegas, Maria; Sheehan, Ennie; Wolfe, Amy; Schofield, Alex; Hughes, Imelda; McCullagh, Gary; Whitehouse, Emily; Varma, Uma.; Warner, Sinead; Reading, Emily; Benson, Lucy.; Moustoukas, Jenny; Strachan, Kate; Emery, Nicholas; Ong, Min; Atherton, Mark; Durso, Sarah; White, Kay; Hinde, Neil; Skone, Kate; Sanchez Marco, Silvia; Saxena, Anurag; Gibbon, Frances; TeWaterNaude, Johann; Davis, Hayley; Thompson, Laura; Majumdar, Anirban; Murugan, Archana; Lynch, Mollie; Milton, Emily; Guarino, Iolanda; Tomlinson, Richard; Jarvis, Heather; Berry, Jane; Wills, Lucy; Frimpong-Ansah, Claire; Watson, Jackie; Robertson, Gemma; Cobb, Gavin; Burslem, Julie; Wong, Jarod; Brunklaus, Andreas; DiMarco, Marina; Brown, Sarah; Mckenzie, Susanne; Torne, Krupa; Mohamed, Rana; Velmurugan, Vel; Prasad, Manish; Sedehizadeh, Saam; Williamson, Sarah; Fenty, Paula; Degoede, Christian; Parkes, Amy; Illingworth, Marjorie; Bhangu, Neeraj; Geary, Michelle; Palmer, Jenni; Shill, Catherine; White, Cathy; Greenfield, Kathryn; Tomos, Heledd; Gates, Sarah; Tirupathi, Sandya; Shah, Ayaz; O'Donoghue, Dara; McVeigh, Janine; .McFetridge, Jaci; Nic Fhirleinn, Grainne; Hussain, Nahin; Baskaran, Dhinesh; Lambat, Zubeida; Ambegaonkar, Gautam; Krishnakumar, Deepa; Taylor, Jacqui; Moores, Jo; Stephen, Elma; Tewnion, Jane; Ramdas, Sithara; Sa, Mario; Servais, Laurent; Lilien, Charlotte; Ramjattan, Hayley; Taylor, Francesca; English, Hayley; Parasuraman, Deepak; Rabb, Rosanna; McMurchie, Heather
    Safety and efficacy of tamoxifen in boys with Duchenne muscular dystrophy (TAMDMD) : A multicentre, randomised, double-blind, placebo-controlled, phase 3 trial
    In: The Lancet Neurology Jg. 22 (2023) Nr. 10, S. 890 - 899
    Online Volltext: dx.doi.org/
  • Schmitt, Linda-Isabell; David, Christina; Steffen, Rebecca; Hezel, Stefanie; Roos, Andreas; Schara-Schmidt, Ulrike; Kleinschnitz, Christoph; Leo, Markus; Hagenacker, Tim
    Spinal astrocyte dysfunction drives motor neuron loss in late-onset spinal muscular atrophy
    In: Acta Neuropathologica Jg. 145 (2023) Nr. 5, S. 611 - 635
    Online Volltext: dx.doi.org/ (Open Access)
  • El-Hassar, Lynda; Amara, Ahmed; Sanson, Benoit; Lacatus, Oana; Amir Belhouchet, Ahmed; Kroneman, Madelon; Claeys, Kristl; Plançon, Jean Philippe; Rodolico, Carmelo; Primiano, Guido; Trojsi, Francesca; Filosto, Massimiliano; Mongini, Tiziana Enrica; Bortolani, Sara; Monforte, Mauro; Carraro, Elena; Maggi, Lorenzo; Ricci, Federica; Silani, Vincenzo; Orsucci, Daniele; Créange, Alain; Péréon, Yann; Stojkovic, Tanya; van der Beek, Nadine Anna Maria Elisabeth; Toscano, Antonio; Pareyson, Davide; Attarian, Shahram; Van den Bergh, Peter Y K; Remiche, Gauthier; Hoeijmakers, Janneke G J; Badrising, Umesh; Voermans, Nicol C.; Kaindl, Angela M.; Schara-Schmidt, Ulrike; Schoser, Benedikt; Gazzerro, Elisabetta; Haberlová, Jana; Voháňka, Stanislav; Pál, Endre; Molnar, Maria Judit; Leonardis, Lea; Tournev, Ivailo L.; Osorio, Andrés Nascimento; Olivé, Montse; Muelas, Nuria; Alonso-Perez, Jorge; Plá, Francesc; de Visser, Marianne; Siciliano, Gabriele; Sacconi, Sabrina
    Telemedicine in Neuromuscular Diseases During Covid-19 Pandemic : ERN-NMD European Survey
    In: Journal of Neuromuscular Diseases Jg. 10 (2023) Nr. 2, S. 173 - 184
    Online Volltext: dx.doi.org/
  • Allen, Nicholas M; O’Rahelly, Mark; Eymard, Bruno; Chouchane, Mondher; Hahn, Andreas; Kearns, Gerry; Kim, Dae-Seong; Byun, Shin Yun; Nguyen, Cam-Tu Emilie; Schara-Schmidt, Ulrike; Kölbel, Heike; Marina, Adela Della; Schneider-Gold, Christiane; Roefke, Kathryn; Thieme, Andrea; Van den Bergh, Peter; Avalos, Gloria; Álvarez-Velasco, Rodrigo; Natera-de Benito, Daniel; Cheng, Man Hin Mark; Chan, Wing Ki; Wan, Hoi Shan; Thomas, Mary Ann; Borch, Lauren; Lauzon, Julie; Kornblum, Cornelia; Reimann, Jens; Mueller, Andreas; Kuntzer, Thierry; Norwood, Fiona; Ramdas, Sithara; Jacobson, Leslie W; Jie, Xiaobo; Fernandez-Garcia, Miguel A; Wraige, Elizabeth; Lim, Ming; Lin, Jean Pierre; Claeys, Kristl G; Aktas, Selma; Oskoui, Maryam; Hacohen, Yael; Masud, Ameneh; Leite, M Isabel; Palace, Jacqueline; De Vivo, Darryl; Vincent, Angela; Jungbluth, Heinz
    The emerging spectrum of fetal acetylcholine receptor antibody-related disorders (FARAD)
    In: Brain: A Journal of Neurology Jg. 146 (2023) Nr. 10, S. 4233 - 4246
    Online Volltext: dx.doi.org/ (Open Access)
  • Park, Julien H.; Nordström, Ulrika; Tsiakas, Konstantinos; Keskin, Isil; Elpers, Christiane; Mannil, Manoj; Heller, Raoul; Nolan, Melinda; Alburaiky, Salam; Zetterström, Per; Hempel, Maja; Schara-Schmidt, Ulrike; Biskup, Saskia; Steinacker, Petra; Otto, Markus; Weishaupt, Jochen; Hahn, Andreas; Santer, Rene; Marquardt, Thorsten; Marklund, Stefan L.; Andersen, Peter M.
    The motor system is exceptionally vulnerable to absence of the ubiquitously expressed superoxide dismutase-1
    In: Brain Communications Jg. 5 (2023) Nr. 1, fcad017
    Online Volltext: dx.doi.org/ (Open Access)
  • Fleischer, Michael; Coskun, Bayram; Stolte, Benjamin; Della-Marina, Adela; Kölbel, Heike; Lax, Hildegard; Nonnemacher, Michael; Kleinschnitz, Christoph; Schara-Schmidt, Ulrike; Hagenacker, Tim
    „Essener Transitionsmodell“ bei neuromuskulären Erkrankungen
    In: Der Nervenarzt Jg. 94 (2023) Nr. 2, S. 129 - 135
    Online Volltext: dx.doi.org/ (Open Access)
  • Schara-Schmidt, Ulrike
    1. Lebenstag/m mit fehlender Spontanbewegung und respiratorischer Insuffizienz : Vorbereitung auf die Facharztprüfung: Fall 43
    In: Monatsschrift Kinderheilkunde Jg. 170 (2022) S. 60 - 64
    Online Volltext: dx.doi.org/
  • Gangfuß, Andrea; Lochmüller, Hanns; Töpf, Ana; O'Heir, Emily; Horvath, Rita; Kölbel, Heike; Schweiger, Bernd; Schara-Schmidt, Ulrike; Roos, Andreas
    A de novo CSDE1 variant causing neurodevelopmental delay, intellectual disability, neurologic and psychiatric symptoms in a child of consanguineous parents
    In: American Journal of Medical Genetics, Part A Jg. 188 (2022) Nr. 1, S. 283 - 291
    Online Volltext: dx.doi.org/ (Open Access)
  • Christiansen, Jon; Güttsches, Anne-Katrin; Schara-Schmidt, Ulrike; Vorgerd, Matthias; Heute, Christoph; Preusse, Corinna; Stenzel, Werner; Roos, Andreas
    ANO5-related muscle diseases : From clinics and genetics to pathology and research strategies
    In: Genes & Diseases Jg. 9 (2022) Nr. 6, S. 1506 - 1520
    Online Volltext: dx.doi.org/ (Open Access)
  • Preusse, Corinna; Marteau, Theodore; Fischer, Norina; Hentschel, Andreas; Sickmann, Albert; Lang, Sven; Schneider, Udo; Schara-Schmidt, Ulrike; Meyer, Nancy; Ruck, Tobias; Dengler, Nora F.; Prudlo, Johannes; Dudesek, Ales; Görl, Norman; Allenbach, Yves; Benveniste, Olivier; Goebel, Hans-Hilmar; Dittmayer, Carsten; Stenzel, Werner; Roos, Andreas
    Endoplasmic reticulum-stress and unfolded protein response-activation in immune-mediated necrotizing myopathy
    In: Brain Pathology Jg. 32 (2022) Nr. 6, e13084
    Online Volltext: dx.doi.org/ (Open Access)
  • Opladen, Thomas; Brennenstuhl, Heiko; Kuseyri Hübschmann, Oya; Call, Debora; Green, Kim; Schara, Ulrike; Rascher, Wolfgang; Hövel, Annegret; Assmann, Birgit; Kölker, Stefan; Westhoff, Jens H.; Walter, Magdalena; Ziegler, Andreas; Hoffmann, Georg F.; Kiening, Karl
    Erratum zu: Die intrazerebrale Gentherapie des Aromatischen-L-Aminosäure-Decarboxylase-Mangels mit Eladocagene exuparvovec. : Eine Stellungnahme der Gesellschaft für Neuropädiatrie (GNP), der Arbeitsgemeinschaft pädiatrischer Stoffwechselstörungen (APS), der Deutschen Gesellschaft für Neurochirurgie (DGNC) und der Deutschen Gesellschaft für Kinder- und Jugendmedizin (DGKJ)
    In: Monatsschrift Kinderheilkunde (2022) in press
    Online Volltext: dx.doi.org/ (Open Access)
  • Fleischer, Michael; Coskun, Bayram; Stolte, Benjamin; Della-Marina, Adela; Kölbel, Heike; Lax, Hildegard; Nonnemacher, Michael; Kleinschnitz, Christoph; Schara-Schmidt, Ulrike; Hagenacker, Tim
    Essen transition model for neuromuscular diseases
    In: Neurological Research and Practice Jg. 4 (2022) Nr. 1, 41
    Online Volltext: dx.doi.org/ (Open Access)
  • Hagenacker, Tim; Schara-Schmidt, Ulrike; Kleinschnitz, Christoph
    Genetisch basierte Therapien bei spinaler Muskelatrophie
    In: Der Nervenarzt Jg. 93 (2022) Nr. 6, S. 549 - 556
    Online Volltext: dx.doi.org/
  • Gangfuß, Andrea; Schara-Schmidt, Ulrike; Roos, Andreas
    Genomik und Proteomik in der Erforschung neuromuskulärer Erkrankungen
    In: Der Nervenarzt Jg. 93 (2022) S. 114 - 121
    Online Volltext: dx.doi.org/
  • Gangfuß, Andrea; Czech, Artur; Hentschel, Andreas; Münchberg, Ute; Horvath, Rita; Töpf, Ana; O'Heir, Emily; Lochmüller, Hanns; Stehling, Florian; Kiewert, Cordula; Sickmann, Albert; Küchler, Alma; Kaiser, Frank J.; Kölbel, Heike; Christiansen, Jon; Schara-Schmidt, Ulrike; Roos, Andreas
    Homozygous WASHC4 variant in two sisters causes a syndromic phenotype defined by dysmorphisms, intellectual disability, profound developmental disorder, and skeletal muscle involvement
    In: The Journal of Pathology Jg. 256 (2022) Nr. 1, S. 93 - 107
    Online Volltext: dx.doi.org/ (Open Access)
  • Gangfuß, Andrea; Hentschel, Andreas; Rademacher, Nina; Sickmann, Albert; Stüve, Burkhard; Horvath, Rita; Gross, Claudia; Kohlschmidt, Nicolai; Förster, Fabian; Abicht, Angela; Schänzer, Anne; Schara-Schmidt, Ulrike; Roos, Andreas; Della Marina, Adela
    Identification of a novel homozygous synthesis of cytochrome c oxidase 2 variant in siblings with early-onset axonal Charcot-Marie-Tooth disease
    In: Human Mutation Jg. 43 (2022) Nr. 4, S. 477 - 486
    Online Volltext: dx.doi.org/ (Open Access)
  • Pechmann, Astrid; Hagenacker, Tim; Schara-Schmidt, Ulrike; Kölbel, Heike; SMArtCARE study group
    Improved upper limb function in non-ambulant children with SMA type 2 and 3 during nusinersen treatment : A prospective 3-years SMArtCARE registry study
    In: Orphanet Journal of Rare Diseases Jg. 17 (2022) Nr. 1, 384
    Online Volltext: dx.doi.org/ (Open Access)
  • Della Marina, Adela; Bertolini, Annikki; Wegener-Panzer, Andreas; Flotats-Bastardas, Marina; Reinhardt, Tabea; El Naggar, Ines; Distelmaier, Felix; Blaschek, Astrid; Schara-Schmidt, Ulrike; Brunet, Theresa; Wagner, Matias; Smirnov, Dimitri; Prokisch, Holger; Wortmann, Saskia B.; Rostasy, Kevin
    Mitochondrial diseases mimicking autoimmune diseases of the CNS and good response to steroids initially
    In: European Journal of Paediatric Neurology Jg. 41 (2022) S. 27 - 35
    Online Volltext: dx.doi.org/
  • Jennings, Matthew J.; Kagiava, Alexia; Vendredy, Leen; Spaulding, Emily L.; Stavrou, Marina; Hathazi, Denisa; Grüneboom, Anika; De Winter, Vicky; Gess, Burkhard; Schara, Ulrike; Pogoryelova, Oksana; Lochmüller, Hanns; Borchers, Christoph H.; Roos, Andreas; Burgess, Robert W; Timmerman, Vincent; Kleopa, Kleopas A; Horvath, Rita
    NCAM1 and GDF15 are biomarkers of Charcot-Marie-Tooth disease in patients and mice
    In: Brain: A Journal of Neurology Jg. 145 (2022) Nr. 11, S. 3999 - 4015
    Online Volltext: dx.doi.org/ (Open Access)
  • Kölbel, Heike; Vill, Katharina; Schwartz, Oliver; Blaschek, Astrid; Nennstiel, Uta; Schara-Schmidt, Ulrike; Hoffmann, Georg F.; Gläser, Dieter; Röschinger, Wulf; Bernert, Günther; Klein, Andrea; Müller-Felber, Wolfgang
    Neugeborenenscreeningprogramm für die spinale Muskelatrophie
    In: Der Nervenarzt Jg. 93 (2022) S. 135 - 141
    Online Volltext: dx.doi.org/
  • Franken, Daniëlle K.; Bouman, Karlijn; Reumers, Stacha F. I.; Braun, Frederik; Spillane, Jennifer; Pennings, Maartje; Houwen, Saskia L.S.; Erasmus, Corrie E.; Schara-Schmidt, Ulrike; Kamsteeg, Erik-Jan; Jungbluth, Heinz; Voermans, Nicol C.
    Neuromuscular Features in XL-MTM Carriers : A Cross-sectional Study in an Unselected Cohort
    In: Neurology Jg. 99 (2022) Nr. 20, S. E2223 - E2233
    Online Volltext: dx.doi.org/
  • Blaschek, Astrid; Kölbel, Heike; Schwartz, Oliver; Köhler, Cornelia; Gläser, Dieter; Eggermann, Katja; Hannibal, Iris; Schara, Ulrike; Müller-Felber, Wolfgang; Vill, Katharina
    Newborn Screening for SMA : Can a Wait-and-See Strategy be Responsibly Justified in Patients With Four SMN2 Copies?
    In: Journal of Neuromuscular Diseases Jg. 9 (2022) Nr. 5, S. 597 - 605
    Online Volltext: dx.doi.org/
  • Arlt, Annabelle; Kohlschmidt, Nicolai; Hentschel, Andreas; Bartels, Enrika; Groß, Claudia; Töpf, Ana; Edem, Pınar; Szabo, Nora; Sickmann, Albert; Meyer, Nancy; Schara-Schmidt, Ulrike; Lau, Jarred; Lochmüller, Hanns; Horvath, Rita; Oktay, Yavuz; Roos, Andreas; Hiz, Semra
    Novel insights into PORCN mutations, associated phenotypes and pathophysiological aspects
    In: Orphanet Journal of Rare Diseases Jg. 17 (2022) Nr. 1, 29
    Online Volltext: dx.doi.org/ Online Volltext (Open Access)
  • Kölbe, Heike; Modler, Laura; Blaschek, Astrid; Schara-Schmidt, Ulrike; Vil, Katharina; Schwartz, Oliver; Müller-Felber, Wolfgang
    Parental Burden and Quality of Life in 5q-SMA diagnosed by Newborn Screening
    In: Children Jg. 2022 (2022) Nr. 9, 1829
    Online Volltext: dx.doi.org/ (Open Access)
  • Gangfuß, Andrea; Hentschel, Andreas; Heil, Lorena; Gonzalez, Maria; Schönecker, Anne; Depienne, Christel; Nishimura, Anna; Zengeler, Diana; Kohlschmidt, Nicolai; Sickmann, Albert; Schara-Schmidt, Ulrike; Fürst, Dieter O.; van der Ven, Peter F.M.; Hahn, Andreas; Roos, Andreas; Schänzer, Anne
    Proteomic and morphological insights and clinical presentation of two young patients with novel mutations of BVES (POPDC1)
    In: Molecular Genetics and Metabolism Jg. 136 (2022) Nr. 3, S. 226 - 237
    Online Volltext: dx.doi.org/
  • Schwartz, Oliver; Kölbel, Heike; Blaschek, Astrid; Gläser, Dieter; Burggraf, Siegfried; Röschinger, Wulf; Schara, Ulrike; Müller-Felber, Wolfgang; Vill, Katharina
    Spinal Muscular Atrophy : Is Newborn Screening Too Late for Children with Two SMN2 Copies?
    In: Journal of Neuromuscular Diseases Jg. 9 (2022) Nr. 3, S. 389 - 396
    Online Volltext: dx.doi.org/ (Open Access)
  • Rascher, Wolfgang; Klingebiel, Thomas; Herting, Egbert; Hoffmann, Georg F.; Berner, Reinhard; Krägeloh-Mann, Ingeborg; Gärtner, Jutta; Zepp, Fred; Schara, Ulrike
    Arzneimittel für neuartige Therapien : Kurzfassung der Stellungnahme der Deutschen Gesellschaft für Kinder- und Jugendmedizin e. V. (DGKJ)
    In: Monatsschrift Kinderheilkunde Jg. 169 (2021) Nr. 1, S. 57 - 59
    Online Volltext: dx.doi.org/ (Open Access)
  • Rascher, Wolfgang; Klingebiel, Thomas; Herting, Egbert; Hoffmann, Georg F.; Berner, Reinhard; Krägeloh-Mann, Ingeborg; Gärtner, Jutta; Zepp, Fred; Schara, Ulrike
    Arzneimittel für neuartige Therapien – Perspektiven, Chancen, Herausforderungen : Stellungnahme der Deutschen Gesellschaft für Kinder- und Jugendmedizin e. V. (DGKJ)
    In: Monatsschrift Kinderheilkunde Jg. 169 (2021) Nr. 1, S. 18 - 28
    Online Volltext: dx.doi.org/ (Open Access)
  • Deschauer, Marcus; Hengel, Holger; Rupprich, Katrin; Kreiß, Martina; Schlotter-Weigel, Beate; Grimmel, Mona; Admard, Jakob; Schneider, Ilka; Alhaddad, Bader; Gazou, Anastasia; Sturm, Marc; Vorgerd, Matthias; Balousha, Ghassan; Balousha, Osama; Falna, Mohammed; Kirschke, Jan S.; Kornblum, Cornelia; Jordan, Berit; Kraya, Torsten; Strom, Tim M.; Weis, Joachim; Schöls, Ludger; Schara, Ulrike; Zierz, Stephan; Riess, Olaf; Meitinger, Thomas; Haack, Tobias B.
    Bi-allelic truncating mutations in VWA1 cause neuromyopathy
    In: Brain: A Journal of Neurology Jg. 144 (2021) Nr. 2, S. 574 - 583
    Online Volltext: dx.doi.org/ (Open Access)
  • Mohassel, Payam; Donkervoort, Sandra; Lone, Museer A.; Nalls, Matthew; Gable, Kenneth; Gupta, Sita D.; Foley, A. Reghan; Hu, Ying; Saute, Jonas Alex Morales; Moreira, Ana Lucila; Kok, Fernando; Introna, Alessandro; Logroscino, Giancarlo; Grunseich, Christopher; Nickolls, Alec R.; Pourshafie, Naemeh; Neuhaus, Sarah B.; Saade, Dimah; Gangfuß, Andrea; Kölbel, Heike; Piccus, Zoe; Le Pichon, Claire E.; Fiorillo, Chiara; Ly, Cindy V.; Töpf, Ana; Brady, Lauren; Specht, Sabine; Zidell, Aliza; Pedro, Helio; Mittelmann, Eric; Thomas, Florian P.; Chao, Katherine R.; Konersman, Chamindra G.; Cho, Megan T.; Brandt, Tracy; Straub, Volker; Connolly, Anne M.; Schara, Ulrike; Roos, Andreas; Tarnopolsky, Mark; Höke, Ahmet; Brown, Robert H.; Lee, Chia-Hsueh; Hornemann, Thorsten; Dunn, Teresa M.; Bönnemann, Carsten G.
    Childhood amyotrophic lateral sclerosis caused by excess sphingolipid synthesis
    In: Nature Medicine Jg. 27 (2021) Nr. 7, S. 1197 - 1204
    Online Volltext: dx.doi.org/ Online Volltext (Open Access)
  • Della Marina, Adela; Pawlitzki, Marc; Ruck, Tobias; van Baalen, Andreas; Vogt, Nadine; Schweiger, Bernd; Hertel, Swantje; Kölbel, Heike; Wiendl, Heinz; Preuße, Corinna; Roos, Andreas; Schara-Schmidt, Ulrike
    Clinical course, myopathology and challenge of therapeutic intervention in pediatric patients with autoimmune-mediated necrotizing myopathy
    In: Children Jg. 8 (2021) Nr. 9, 721
    Online Volltext: dx.doi.org/ Online Volltext (Open Access)
  • Gangfuss, Andrea; Schmitt, Dirk; Roos, Andreas; Braun, Frederik; Annoussamy, Melanie; Servais, Laurent; Schara-Schmidt, Ulrike
    Diagnosing X-linked Myotubular Myopathy - A German 20-year Follow up Experience
    In: Journal of Neuromuscular Diseases Jg. 8 (2021) Nr. 1, S. 79 - 90
    Online Volltext: dx.doi.org/ (Open Access)
  • Opladen, Thomas; Brennenstuhl, Heiko; Kuseyri Hübschmann, Oya; Call, Debora; Green, Kim; Schara, Ulrike; Rascher, Wolfgang; Hövel, Annegret; Assmann, Birgit; Kölker, Stefan; Westhoff, Jens H.; Walter, Magdalena; Ziegler, Andreas; Hoffmann, Georg F.; Kiening, Karl
    Die intrazerebrale Gentherapie des Aromatischen-L-Aminosäure-Decarboxylase-Mangels mit Eladocagene exuparvovec : Eine Stellungnahme der Gesellschaft für Neuropädiatrie (GNP), der Arbeitsgemeinschaft pädiatrischer Stoffwechselstörungen (APS), der Deutschen Gesellschaft für Neurochirurgie (DGNC) und der Deutschen Gesellschaft für Kinder- und Jugendmedizin (DGKJ)
    In: Monatsschrift Kinderheilkunde Jg. 169 (2021) Nr. 8, S. 738 - 747
    Online Volltext: dx.doi.org/ (Open Access)
  • Grande, Valentina; Hathazi, Denisa; O'Connor, Emily; Marteau, Theo; Schara-Schmidt, Ulrike; Hentschel, Andreas; Gourdon, Genevieve; Nikolenko, Nikoletta; Lochmüller, Hanns; Roos, Andreas
    Dysregulation of GSK3β-Target Proteins in Skin Fibroblasts of Myotonic Dystrophy Type 1 (DM1) Patients
    In: Journal of Neuromuscular Diseases Jg. 8 (2021) Nr. 4, S. 603 - 619
    Online Volltext: dx.doi.org/ Online Volltext (Open Access)
  • Rascher, Wolfgang; Klingebiel, Thomas; Herting, Egbert; Hoffmann, Georg F.; Berner, Reinhard; Krägeloh-Mann, Ingeborg; Gärtner, Jutta; Zepp, Fred; Schara, Ulrike
    Erratum zu : Arzneimittel für neuartige Therapien – Perspektiven, Chancen, Herausforderungen: Stellungnahme der Deutschen Gesellschaft für Kinder- und Jugendmedizin e. V. (DGKJ) (Monatsschrift Kinderheilkunde, (2020), 10.1007/s00112-020-01056-x) (Monatsschrift Kinderheilkunde, (2020), 10.1007/s00112-020-01068-7)
    In: Monatsschrift Kinderheilkunde Jg. 169 (2021) Nr. 1, S. 60 - 61
    Online Volltext: dx.doi.org/ (Open Access)
  • Töpf, Ana; Pyle, Angela; Griffin, Helen; Matalonga, Leslie; Schon, Katherine; Cohen, Enzo; Cuesta, Isabel; Danis, Daniel; Denommé-Pichon, Anne-Sophie; Duffourd, Yannis; Gilissen, Christian; Johari, Mridul; Laurie, Steven; Li, Shuang; Nelson, Isabelle; Paramonov, Ida; Peters, Sophia; Prasanth, Sivakumar; Robinson, Peter; Sablauskas, Karolis; Savarese, Marco; Steyaert, Wouter; van der Velde, Joeri K.; Vitobello, Antonio; Baets, Jonathan; Beijer, Danique; Bonne, Gisèle; Cossins, Judith; Evangelista, Teresinha; Ferlini, Alessandra; Hackman, Peter; Hanna, Michael G.; Houlden, Henry; Lau, Jarred; Lochmüller, Hanns; Macken, William L.; Musacchia, Francesco; Nascimento, Andres; Natera-de Benito, Daniel; Nigro, Vincenzo; Piluso, Giulio; Pini, Veronica; Pitceathly, Robert D. S.; Polavarapu, Kiran; Cruz, Pedro M. Rodriguez; Sarkozy, Anna; Selvatici, Rita; Thompson, Rachel; Torella, Annalaura; Udd, Bjarne; Van de Vondel, Liedewei; Vandrovcova, Jana; Zaharieva, Irina; Sickmann, Albert; Schara–Schmidt, Ulrike; Hentschel, Andreas; Chinnery, Patrick F.; Kölbel, Heike; Roos, Andreas; Horvath, Rita
    Exome reanalysis and proteomic profiling identified TRIP4 as a novel cause of cerebellar hypoplasia and spinal muscular atrophy (PCH1)
    In: European Journal of Human Genetics Jg. 29 (2021) Nr. 9, S. 1348 - 1353
    Online Volltext: dx.doi.org/ (Open Access)
  • Vogt, Guido; El Choubassi, Naji; Herczegfalvi, Ágnes; Kölbel, Heike; Lekaj, Anja; Schara, Ulrike; Holtgrewe, Manuel; Krause, Sabine; Horvath, Rita; Schuelke, Markus; Hübner, Christoph; Mundlos, Stefan; Roos, Andreas; Lochmüller, Hanns; Karcagi, Veronika; Kornak, Uwe; Fischer-Zirnsak, Björn
    Expanding the clinical and molecular spectrum of ATP6V1A related metabolic cutis laxa
    In: Journal of Inherited Metabolic Disease (JIMD) Jg. 44 (2021) Nr. 4, S. 972 - 986
    Online Volltext: dx.doi.org/ (Open Access)
  • Braun, Frederik; Gangfuß, Andrea; Stöbe, Petra; Haack, Tobias B.; Schweiger, Bernd; Roos, Andreas; Schara, Ulrike
    Expansion of the mutational spectrum of BMPER leading to diaphanospondylodysostosis and description of the associated disease process
    In: Molecular Genetics & Genomic Medicine (2021) e1767
    Online Volltext: dx.doi.org/ (Open Access)
  • Bernert, Guenther; Hahn, Andreas; Köhler, Cornelia; Meyer, Sascha; Schara, Ulrike; Schlachter, Kurt; Trollmann, Regina; Walter, Maggie C.
    Expertenempfehlung : Therapie nichtgehfähiger Patienten mit Muskeldystrophie Duchenne
    In: Der Nervenarzt Jg. 92 (2021) Nr. 4, S. 359 - 366
    Online Volltext: dx.doi.org/ (Open Access)
  • Campbell, Craig; McColl, Elaine; McDermott, Michael P.; Martens, William B.; Guglieri, Michela; Griggs, Robert C.; Straub, Volker; Childs, Anne-Marie; Ciafaloni, Emma; Shieh, Perry B.; Spinty, Stefan; Butterfield, Russell J.; Horrocks, Iain; Roper, Helen; Maggi, Lorenzo; Baranello, Giovanni; Flanigan, Kevin M.; Kuntz, Nancy L.; Manzur, Adnan Y.; Darras, Basil T.; Kang, Peter; Mah, Jean K.; Mongini, Tiziana; Ricci, Federica; Morrison, Leslie; Krzesniak-Swinarska, Monika; von der Hagen, Maja; Finkel, Richard S.; Kumar, Ashutosh; Wicklund, Matthew; McDonald, Craig M.; Henricson, Erik K.; Schara-Schmidt, Ulrike; Wilichowski, Ekkehard; Barohn, Richard J.; Statland, Jeffrey; Kirschner, Janbernd; Vita, Giuseppe; Vita, Gian Luca; Howard, James F.; Hughes, Imelda; McMillan, Hugh J.; Pegoraro, Elena; Bello, Luca; Burnette, W. Bryan; Thangarajh, Mathula; Chang, Taeun
    Health related quality of life in young, steroid-naïve boys with Duchenne muscular dystrophy
    In: Neuromuscular Disorders Jg. 31 (2021) Nr. 11, S. 1161 - 1168
    Online Volltext: dx.doi.org/
  • Schorling, David C.; Müller, Cornelia K.; Pechmann, Astrid; Borell, Sabine; Rosenfelder, Simone; Kölbel, Heike; Schara, Ulrike; Zieger, Barbara; Kirschner, Janbernd
    Impaired secretion of platelet granules in patients with Duchenne muscular dystrophy : results of a prospective diagnostic study
    In: Neuromuscular Disorders Jg. 31 (2021) Nr. 1, S. 35 - 43
    Online Volltext: dx.doi.org/
  • Kölbel, Heike; Preuße, Corinna; Brand, Lukas; von Moers, Arpad; Della Marina, Adela; Schuelke, Markus; Roos, Andreas; Goebel, Hans-Hilmar; Schara-Schmidt, Ulrike; Stenzel, Werner
    Inflammation, fibrosis and skeletal muscle regeneration in LGMDR9 are orchestrated by macrophages
    In: Neuropathology and Applied Neurobiology Jg. 47 (2021) Nr. 6, S. 856 - 866
    Online Volltext: dx.doi.org/ (Open Access)
  • Gangfuß, Andrea; Yigit, Gökhan; Altmüller, Janine; Nürnberg, Peter; Czeschik, Johanna Christina; Wollnik, Bernd; Bögershausen, Nina; Burfeind, Peter; Wieczorek, Dagmar; Kaiser, Frank; Roos, Andreas; Kölbel, Heike; Schara-Schmidt, Ulrike; Küchler, Alma
    Intellectual disability associated with craniofacial dysmorphism, cleft palate, and congenital heart defect due to a de novo MEIS2 mutation : A clinical longitudinal study
    In: American Journal of Medical Genetics, Part A Jg. 185 (2021) Nr. 4, S. 1216 - 1221
    Online Volltext: dx.doi.org/ (Open Access)
  • Ben Yaou, Rabah; Yun, Pomi; Dabaj, Ivana; Norato, Gina; Donkervoort, Sandra; Xiong, Hui; Nascimento, Andrés; Maggi, Lorenzo; Sarkozy, Anna; Monges, Soledad; Bertoli, Marta; Komaki, Hirofumi; Mayer, Michèle; Mercuri, Eugenio; Zanoteli, Edmar; Castiglioni, Claudia; Marini-Bettolo, Chiara; D’Amico, Adele; Deconinck, Nicolas; Desguerre, Isabelle; Erazo-Torricelli, Ricardo; Gurgel-Giannetti, Juliana; Ishiyama, Akihiko; Kleinsteuber, Karin S.; Lagrue, Emmanuelle; Laugel, Vincent; Mercier, Sandra; Messina, Sonia; Politano, Luisa; Ryan, Monique M.; Sabouraud, Pascal; Schara, Ulrike; Siciliano, Gabriele; Vercelli, Liliana; Voit, Thomas; Yoon, Grace; Alvarez, Rachel; Muntoni, Francesco; Pierson, Tyler M.; Gómez-Andrés, David; Reghan Foley, A.; Quijano-Roy, Susana; Bönnemann, Carsten G.; Bonne, Gisèle
    International retrospective natural history study of LMNA-related congenital muscular dystrophy
    In: Brain Communications Jg. 3 (2021) Nr. 3, 75
    Online Volltext: dx.doi.org/ (Open Access)
  • Markati, Theodora; De Waele, Liesbeth; Schara-Schmidt, Ulrike; Servais, Laurent
    Lessons Learned from Discontinued Clinical Developments in Duchenne Muscular Dystrophy
    In: Frontiers in Pharmacology Jg. 12 (2021) 735912
    Online Volltext: dx.doi.org/ (Open Access)
  • Braun, Frederik; Hentschel, Andreas; Sickmann, Albert; Marteau, Theodore; Hertel, Swantje; Förster, Fabian; Prokisch, Holger; Wagner, Matias; Wortmann, Saskia; Della Marina, Adela; Kölbel, Heike; Roos, Andreas; Schara, Ulrike
    Muscular and molecular pathology associated with SPATA5 deficiency in a child with EHLMRS
    In: International Journal of Molecular Sciences (IJMS) Jg. 22 (2021) Nr. 15, 7835
    Online Volltext: dx.doi.org/ Online Volltext (Open Access)
  • Annoussamy, Mélanie; Seferian, Andreea M.; Daron, Aurore; Péréon, Yann; Cances, Claude; Vuillerot, Carole; De Waele, Liesbeth; Laugel, Vincent; Schara, Ulrike; Gidaro, Teresa; Lilien, Charlotte; Hogrel, Jean-Yves; Carlier, Pierre; Fournier, Emmanuel; Lowes, Linda; Gorni, Ksenija; Ly-Le Moal, Myriam; Hellbach, Nicole; Seabrook, Timothy; Czech, Christian; Hermosilla, Ricardo; Servais, Laurent
    Natural history of Type 2 and 3 spinal muscular atrophy : 2-year NatHis-SMA study
    In: Annals of Clinical and Translational Neurology Jg. 8 (2021) Nr. 2, S. 359 - 373
    Online Volltext: dx.doi.org/ (Open Access)
  • Müller-Felber, Wolfgang; Vill, Katharina; Schwartz, Oliver; Blaschek, Astrid; Nennstiel, Uta; Schara, Ulrike; Hoffmann, Georg Friedrich; Gläser, Dieter; Becker, Marc; Röschinger, Wulf; Bernert, Günther; Klein, Andrea; Kölbel, Heike
    Neugeborenenscreening auf spinale Muskelatrophie : Was muss der Pädiater wissen?
    In: Monatsschrift Kinderheilkunde (2021) in press
    Online Volltext: dx.doi.org/ (Open Access)
  • Vill, Katharina; Schwartz, Oliver; Blaschek, Astrid; Gläser, Dieter; Nennstiel, Uta; Wirth, Brunhilde; Burggraf, Siegfried; Röschinger, Wulf; Becker, Marc; Czibere, Ludwig; Durner, Jürgen; Eggermann, Katja; Olgemöller, Bernhard; Harms, Erik; Schara, Ulrike; Kölbel, Heike; Müller-Felber, Wolfgang
    Newborn screening for spinal muscular atrophy in Germany : Clinical results after 2 years
    In: Orphanet Journal of Rare Diseases Jg. 16 (2021) Nr. 1, S. 153
    Online Volltext: dx.doi.org/ (Open Access)
  • Meyer, Robert; Begemann, Matthias; Hübner, Christian Thomas; Dey, Daniela; Küchler, Alma; Elgizouli, Magdeldin; Schara, Ulrike; Ambrozaityte, Laima; Burnyte, Birute; Schröder, Carmen; Kenawy, Asmaa; Kroisel, Peter; Demuth, Stephanie; Fekete, Gyorgy; Opladen, Thomas; Elbracht, Miriam; Eggermann, Thomas
    One test for all : Whole exome sequencing significantly improves the diagnostic yield in growth retarded patients referred for molecular testing for Silver–Russell syndrome
    In: Orphanet Journal of Rare Diseases Jg. 16 (2021) Nr. 1, S. 42
    Online Volltext: dx.doi.org/ (Open Access)
  • Della Marina, Adela; Arlt, Annabelle; Schara-Schmidt, Ulrike; Depienne, Christel; Gangfuß, Andrea; Kölbel, Heike; Sickmann, Albert; Freier, Erik; Kohlschmidt, Nicolai; Hentschel, Andreas; Weis, Joachim; Czech, Artur; Grüneboom, Anika; Roos, Andreas
    Phenotypical and myopathological consequences of compound heterozygous missense and nonsense variants in slc18a3
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    Online Volltext: dx.doi.org/ Online Volltext (Open Access)
  • Hentschel, Andreas; Czech, Artur; Münchberg, Ute; Freier, Erik; Schara-Schmidt, Ulrike; Sickmann, Albert; Reimann, Jens; Roos, Andreas
    Protein signature of human skin fibroblasts allows the study of the molecular etiology of rare neurological diseases
    In: Orphanet Journal of Rare Diseases Jg. 16 (2021) Nr. 1, S. 73
    Online Volltext: dx.doi.org/ (Open Access)
  • Rosales, Juan Muñoz; Kölbel, Heike; Hagenacker, Tim; Schara-Schmidt, Ulrike
    Risdiplam : Aus Expertensicht
    In: Psychopharmakotherapie Jg. 28 (2021) Nr. 5, S. 205 - 206
  • Rosales, Juan Muñoz; Kölbel, Heike; Hagenacker, Tim; Schara-Schmidt, Ulrike
    Risdiplam : Aus Expertensicht
    In: Arzneimitteltherapie (AMT) Jg. 39 (2021) Nr. 9, S. 293 - 294
  • van Otterdijk, S.; Kölbel, H.; Schönecker, A.; Modler, L.; Marina, A. Della; Neudorf, Ulrich; Schara, Ulrike
    SMA Clinical Data : Description of cardiac involvement in 5q SMA pediatric patients
    In: Neuromuscular Disorders Jg. 31 (2021) Nr. Suppl. 1, S. S125
    Online Volltext: dx.doi.org/ (Open Access)
  • Reumers, Stacha F. I.; Braun, Frederik; Spillane, Jennifer E.; Böhm, Johann; Pennings, Maartje; Schouten, Meyke; van der Kooi, Anneke J.; Foley, A Reghan; Bönnemann, Carsten G.; Kamsteeg, Erik-Jan; Erasmus, Corrie E.; Schara-Schmidt, Ulrike; Jungbluth, Heinz; Voermans, Nicol C.
    Spectrum of Clinical Features in X-Linked Myotubular Myopathy Carriers : An International Questionnaire Study
    In: Neurology Jg. 97 (2021) Nr. 5, S. e501 - e512
    Online Volltext: dx.doi.org/ Online Volltext (Open Access)
  • Saffari, Afshin; Cannet, Claire; Blaschek, Astrid; Hahn, Andreas; Hoffmann, Georg F.; Johannsen, Jessika; Kirsten, Romy; Kockaya, Musa; Kölker, Stefan; Müller-Felber, Wolfgang; Roos, Andreas; Schäfer, Hartmut; Schara, Ulrike; Spraul, Manfred; Trefz, Friedrich K.; Vill, Katharina; Wick, Wolfgang; Weiler, Markus; Okun, Jürgen G.; Ziegler, Andreas
    ¹H-NMR-based metabolic profiling identifies non-invasive diagnostic and predictive urinary fingerprints in 5q spinal muscular atrophy
    In: Orphanet Journal of Rare Diseases Jg. 16 (2021) 441
    Online Volltext: dx.doi.org/ (Open Access)
  • Neuhaus, Sarah B.; Wallgren-Pettersson, Carina; Bönnemann, Carsten G.; Schara, Ulrike; Servais, Laurent; The Nemaline Working Group
    250th ENMC International Workshop : Clinical trial readiness in nemaline myopathy 6–8 September 2019, Hoofdorp, the Netherlands ; Workshop Report
    In: Neuromuscular Disorders Jg. 30 (2020) Nr. 10, S. 866 - 875
    Online Volltext: dx.doi.org/ (Open Access)
  • Meinke, Peter; Kerr, Alastair R.W.; Czapiewski, Rafal; de las Heras, Jose I.; Dixon, Charles R.; Harris, Elizabeth; Kölbel, Heike; Muntoni, Francesco; Schara, Ulrike; Straub, Volker; Schoser, Benedikt; Wehnert, Manfred; Schirmer, Eric C.
    A multistage sequencing strategy pinpoints novel candidate alleles for Emery-Dreifuss muscular dystrophy and supports gene misregulation as its pathomechanism
    In: EBioMedicine Jg. 51 (2020) 102587
    Online Volltext: dx.doi.org/ (Open Access)
  • Kölbel, Heike; Roos, Andreas; van der Ven, Peter F. M.; Evangelista, Teresinha; Nolte, Kay; Johnson, Katherine; Töpf, Ana; Wilson, Michael; Kress, Wolfram; Sickmann, Albert; Straub, Volker; Kollipara, Laxmikanth; Weis, Joachim; Fürst, Dieter O.; Schara, Ulrike
    First clinical and myopathological description of a myofibrillar myopathy with congenital onset and homozygous mutation in FLNC
    In: Human Mutation Jg. 41 (2020) Nr. 9, S. 1600 - 1614
    Online Volltext: dx.doi.org/ (Open Access)
  • Paul, Luisa; Rupprich, Katrin; Della Marina, Adela; Eckstein, Anja; Elgizouli, Magdeldin; Kaiser, Frank J.; Schweiger, Bernd; Köninger, Angela; Iannaccone, Antonella; Hehr, Ute; Kölbel, Heike; Roos, Andreas; Schara-Schmidt, Ulrike; Küchler, Alma
    Further evidence for POMK as candidate gene for WWS with meningoencephalocele
    In: Orphanet Journal of Rare Diseases Jg. 15 (2020) S. 242
    Online Volltext: dx.doi.org/ (Open Access)
  • Ziegler, Andreas; Wilichowski, Ekkehard; Schara, Ulrike; Hahn, Andreas; Müller-Felber, Wolfgang; Johannsen, Jessika; von der Hagen, Maja; von Moers, Arpad; Stoltenburg, Corinna; Saffari, Afshin; Walter, Maggie C.; Husain, Ralf A.; Pechmann, Astrid; Köhler, Cornelia; Horber, Veronka; Schwartz, Oliver; Kirschner, Janbernd
    Handlungsempfehlungen zur Gentherapie der spinalen Muskelatrophie mit Onasemnogene Abeparvovec – AVXS-101 : Konsensuspapier der deutschen Vertretung der Gesellschaft für Neuropädiatrie (GNP) und der deutschen Behandlungszentren unter Mitwirkung des Medizinisch-Wissenschaftlichen Beirates der Deutschen Gesellschaft für Muskelkranke (DGM) e. V.
    In: Der Nervenarzt Jg. 91 (2020) Nr. 6, S. 518 - 529
    Online Volltext: dx.doi.org/ (Open Access)
  • Müller-Felber, Wolfgang; Vill, Katharina; Schwartz, Oliver; Gläser, Dieter; Nennstiel, Uta; Wirth, Brunhilde; Burggraf, Siegfried; Röschinger, Wulf; Becker, Marc; Durner, Jürgen; Eggermann, Katja; Müller, Christine; Hannibal, Iris; Olgemöller, Bernd; Schara, Ulrike; Blaschek, Astrid; Kölbel, Heike
    Infants Diagnosed with Spinal Muscular Atrophy and 4 SMN2 Copies through Newborn Screening - Opportunity or Burden?
    In: Journal of Neuromuscular Diseases Jg. 7 (2020) Nr. 2, S. 109 - 117
    Online Volltext: dx.doi.org/ (Open Access)
  • Della Marina, Adela; Wibbeler, Eva; Abicht, Angela; Kölbel, Heike; Lochmüller, Hanns; Roos, Andreas; Schara, Ulrike
    Long Term Follow-Up on Pediatric Cases With Congenital Myasthenic Syndromes : A Retrospective Single Centre Cohort Study
    In: Frontiers in Human Neuroscience Jg. 14 (2020) 560860
    Online Volltext: dx.doi.org/ Online Volltext (Open Access)
  • Servais, Laurent; Straathof, Chiara S.M.; Schara, Ulrike; Klein, Andrea; Leinonen, Mika; Hasham, Shabir; Meier, Thomas; De Waele, Liesbeth; Gordish-Dressman, Heather; McDonald, Craig M.; Mayer, Oscar H.; Voit, Thomas; Mercuri, Eugenio; Buyse, Gunnar M.
    Long-term data with idebenone on respiratory function outcomes in patients with Duchenne muscular dystrophy
    In: Neuromuscular Disorders Jg. 30 (2020) Nr. 1, S. 5 - 16
    Online Volltext: dx.doi.org/ (Open Access)
  • Schara, Ulrike
    Meta-analyses of ataluren randomized controlled trials in nonsense mutation Duchenne muscular dystrophy
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    Online Volltext: dx.doi.org/ (Open Access)
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    In: The EMBO Journal Jg. 39 (2020) Nr. 23, S. e105364
    Online Volltext: dx.doi.org/ (Open Access)
  • Blaschek, Astrid; Vill, Katharina; Müller-Felber, Wolfgang; Schara, Ulrike
    Molekulare Therapien bei neuromuskulären Erkrankungen im Kindesalter : Große Hoffnungen und unbekannte Risiken
    In: Bundesgesundheitsblatt - Gesundheitsforschung - Gesundheitsschutz Jg. 63 (2020) Nr. 7, S. 891 - 897
    Online Volltext: dx.doi.org/ (Open Access)
  • Alonso-Pérez, Jorge; González-Quereda, Lidia; Bello, Luca; Guglieri, Michela; Straub, Volker; Gallano, Pia; Semplicini, Claudio; Pegoraro, Elena; Zangaro, Vittoria; Nascimento, Andrés; Ortez, Carlos; Comi, Giacomo Pietro; Dam, Leroy Ten; De Visser, Marianne; van der Kooi, A.J.; Garrido, Cristina; Santos, Manuela; Schara, Ulrike; Gangfuß, Andrea; Løkken, Nicoline; Storgaard, Jesper Helbo; Vissing, John; Schoser, Benedikt; Dekomien, Gabriele; Udd, Bjarne; Palmio, Johanna; D'Amico, Adele; Politano, Luisa; Nigro, Vincenzo; Bruno, Claudio; Panicucci, Chiara; Sarkozy, Anna; Abdel-Mannan, Omar; Alonso-Jimenez, Alicia; Claeys, Kristl G.; Gomez-Andrés, David; Munell, Francina; Costa-Comellas, Laura; Haberlová, Jana; Rohlenová, Marie; Elke, De Vos; De Bleecker, Jan L.; Dominguez-González, Cristina; Tasca, Giorgio; Weiss, Claudia; Deconinck, Nicolas; Fernández-Torrón, Roberto; López de Munain, Adolfo; Camacho-Salas, Ana; Melegh, Béla; Hadzsiev, Kinga; Leonardis, Lea; Koritnik, Blaz; Garibaldi, Matteo; de Leon-Hernández, Juan Carlos; Malfatti, Edoardo; Fraga-Bau, Arturo; Richard, Isabelle; Illa, Isabel; Díaz-Manera, Jordi
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    In: Brain: A Journal of Neurology Jg. 143 (2020) Nr. 9, S. 2696 - 2708
    Online Volltext: dx.doi.org/ (Open Access)
  • Schara, Ulrike
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  • Töpf, Ana; Johnson, Katherine; Bates, Adam; Phillips, Lauren; Chao, Katherine R.; England, Eleina M.; Laricchia, Kristen M.; Mullen, Thomas; Valkanas, Elise; Xu, Liwen; Bertoli, Marta; Blain, Alison; Casasús, Ana B.; Duff, Jennifer; Mroczek, Magdalena; Specht, Sabine; Lek, Monkol; Ensini, Monica; MacArthur, Daniel G.; Akay, Ela; Alonso-Pérez, Jorge; Baets, Jonathan; Barisic, Nina; Bastian, Alexandra; Borell, Sabine; Chamova, Teodora; Claeys, Kristl; Colomer, Jaume; Coppens, Sandra; Deconinck, Nicolas; de Ridder, Willem; Díaz-Manera, Jordi; Domínguez-González, Cristina; Duncan, Alexis; Durmus, Hacer; Fahmy, Nagia A.; Farrugia, Maria Elena; Fernández-Torrón, Roberto; Gonzalez-Quereda, Lidia; Haberlova, Jana; von der Hagen, Maja; Hahn, Andreas; Jakovčević, Antonia; Jerico Pascual, Ivonne; Kapetanovic, Solange; Kenina, Viktorija; Kirschner, Janbernd; Klein, Andrea; Kölbel, Heike; Kostera-Pruszczyk, Anna; Kulshrestha, Richa; Lähdetie, Jaana; Layegh, Mahsa; Longman, Cheryl; López de Munain, Adolfo; Loscher, Wolfgang; Lusakowska, Anna; Maddison, Paul; Magot, Armelle; Majumdar, Anirban; Martí, Pilar; Martínez Arroyo, Amaia; Mazanec, Radim; Mercier, Sandra; Mongini, Tiziana; Muelas, Nuria; Nascimento, Andrés; Nafissi, Shahriar; Omidi, Shirin; Ortez, Carlos; Paquay, Stéphanie; Pereon, Yann; Perić, Stojan; Ponzalino, Valentina; Rakočević Stojanović, Vidosava; Remiche, Gauthier; Rodríguez Sainz, Aida; Rudnik, Sabine; Sanchez Albisua, Iciar; Santos, Manuela; Schara, Ulrike; Shatillo, Andriy; Sertić, Jadranka; Stephani, Ulrich; Strang-Karlsson, Sonja; Sznajer, Yves; Tanev, Ani; Tournev, Ivailo; Van den Bergh, Peter; Van Parijs, Vinciane; Vílchez, Juan; Vill, Katharina; Vissing, John; Wallgren-Pettersson, Carina; Wanschitz, Julia; Willis, Tracey; Witting, Nanna; Zulaica, Miren; Straub, Volker
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    Online Volltext: dx.doi.org/ (Open Access)
  • Janisch, Maria; Boehme, Kristin; Thiele, Simone; Bock, Annette; Kirschner, Janbernd; Schara, Ulrike; Walter, Maggie C.; Nolte-Buchholtz, Silke; von der Hagen, Maja
    Tasks and interfaces in primary and specialized palliative care for Duchenne muscular dystrophy : A patients’ perspective
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    Online Volltext: dx.doi.org/
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    Online Volltext: dx.doi.org/ Online Volltext (Open Access)
  • Pechmann, Astrid; Baumann, Matthias; Bernert, Günther; Flotats-Bastardas, Marina; Gruber-Sedlmayr, Ursula; von der Hagen, Maja; Hasselmann, Oswald; Hobbiebrunken, Elke; Horber, Veronka; Johannsen, Jessika; Kellersmann, Anna; Köhler, Cornelia; von Moers, Arpad; Müller-Felber, Wolfgang; Plecko, Barbara; Reihle, Christof; Schlachter, Kurt; Schreiber, Gudrun; Schwartz, Oliver; Smitka, Martin; Steiner, Elisabeth; Stoltenburg, Corinna; Stüve, Burkhard; Theophil, Manuela; Weiß, Claudia; Wiegand, Gert; Wilichowski, Ekkehard; Winter, Benedikt; Wittmann, Wolfgang; Schara, Ulrike; Kirschner, Janbernd
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    Online Volltext: dx.doi.org/
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    Zur Gentherapie der Spinalen Muskelatrophie mit Onasemnogene Abeparvovec : Stellungnahme der Gesellschaft für Neuropädiatrie
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    Online Volltext: dx.doi.org/ (Open Access)
  • Kölbel, Heike; Abicht, Angela; Schwartz, Oliver; Katona, Istvan; Paulus, Werner; Neuen-Jacob, Eva; Weis, Joachim; Schara, Ulrike
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    Online Volltext: dx.doi.org/
  • Geis, Tobias; Rödl, Tanja; Topaloǧlu, Haluk; Balci-Hayta, Burcu; Hinreiner, Sophie; Müller-Felber, Wolfgang; Schoser, Benedikt; Mehraein, Yasmin; Hübner, Angela; Zirn, Birgit; Hoopmann, Markus; Reutter, Heiko; Mowat, David; Schuierer, Gerhard; Schara, Ulrike; Hehr, Ute; Kölbel, Heike
    Clinical long-time course, novel mutations and genotype-phenotype correlation in a cohort of 27 families with POMT1-related disorders
    In: Orphanet Journal of Rare Diseases Jg. 14 (2019) Nr. 1,
    Online Volltext: dx.doi.org/ (Open Access)
  • Dittrich, Sven; Graf, Erika; Trollmann, Regina; Neudorf, Ulrich; Schara, Ulrike; Heilmann, Antje; Hagen, Maja von der; Stiller, Brigitte; Kirschner, Janbernd; Pozza, Robert Dalla; Müller-Felber, Wolfgang; Weiss, Katja; Au, Katja von; Khalil, Markus; Motz, Reinald; Korenke, Christoph; Lange, Martina; Wilichowski, Ekkehard; Pattathu, Joseph; Ebinger, Friedrich; Wiechmann, Nicola; Schröder, Rolf
    Effect and safety of treatment with ACE-inhibitor Enalapril and β-blocker metoprolol on the onset of left ventricular dysfunction in Duchenne muscular dystrophy : a randomized, double-blind, placebo-controlled trial
    In: Orphanet Journal of Rare Diseases Jg. 14 (2019) Nr. 1, S. 105
    Online Volltext: dx.doi.org/ (Open Access)
  • Mayer, O. H.; Leinonen, M.; Servais, L.; Straathof, C.; Schara, Ulrike; Voit, Thomas; Mercuri, E.; Buyse, G.; Syros Investigators
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    Online Volltext: dx.doi.org/
  • Kölbel, Heike; Hathazi, Denisa; Jennings, Matthew; Horvath, Rita; Roos, Andreas; Schara, Ulrike
    Identification of Candidate Protein Markers in Skeletal Muscle of Laminin-211-Deficient CMD Type 1A-Patients.
    In: Frontiers in Neurology Jg. 10 (2019) S. 470
    Online Volltext: dx.doi.org/ (Open Access)
  • Preuße, Corinna; Moers, Arpad von; Kölbel, Heike; Pehl, Debora; Goebel, Hans-Hilmar; Schara, Ulrike; Stenzel, Werner
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    Online Volltext: dx.doi.org/
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    One Year of Newborn Screening for SMA - Results of a German Pilot Project
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    Online Volltext: dx.doi.org/ (Open Access)
  • Pechmann, Astrid; König, Kirsten; Bernert, Günther; Schachtrup, Kristina; Schara, Ulrike; Schorling, David; Schwersenz, Inge; Stein, Sabine; Tassoni, Adrian; Vogt, Sibylle; Walter, Maggie C.; Lochmüller, Hanns; Kirschner, Janbernd
    SMArtCARE - A platform to collect real-life outcome data of patients with spinal muscular atrophy
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    Online Volltext: dx.doi.org/ (Open Access)
  • Park, Julien H.; Elpers, Christiane; Reunert, Janine; McCormick, Michael L.; Mohr, Julia; Biskup, Saskia; Schwartz, Oliver; Rust, Stephan; Grüneberg, Marianne; Seelhöfer, Anja; Schara, Ulrike; Boltshauser, Eugen; Spitz, Douglas R.; Marquardt, Thorsten
    SOD1 deficiency : a novel syndrome distinct from amyotrophic lateral sclerosis
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    Online Volltext: dx.doi.org/ Online Volltext (Open Access)
  • Annoussamy, Mélanie; Lilien, Charlotte; Gidaro, Teresa; Gargaun, Elena; Chê, Virginie; Schara, Ulrike; Gangfuß, Andrea; D'Amico, Adele; Dowling, James J.; Darras, Basil T.; Daron, Aurore; Hernandez, Arturo; De Lattre, Capucine; Arnal, Jean-Michel; Mayer, Michèle; Cuisset, Jean-Marie; Vuillerot, Carole; Fontaine, Stéphanie; Bellance, Rémi; Biancalana, Valérie; Buj-Bello, Ana; Hogrel, Jean-Yves; Landy, Hal; Servais, Laurent
    X-linked myotubular myopathy: A prospective international natural history study
    In: Neurology Jg. 92 (2019) Nr. 16, S. E1852 - E1867
    Online Volltext: dx.doi.org/ Online Volltext (Open Access)
  • Aartsma-Rus, Annemieke; Ferlini, Alessandra; McNally, Elizabeth M.; Spitali, Pietro; Sweeney, H. Lee; Szigyarto, Christina Al-Khalili; Bello, Luca; Bronson, Abby; Brown, Kristy; Buccella, Filippo; Chadwick, Jessica; Frank, Diane; Hoffman, Eric; Larkindale, Jane; McClorey, G.; Munschauer, Rick; Muntoni, Francesco; Owens, Jane; Schara, Ulrike; Straub, Volker; Tinsley, Jon; Versnel, Jenny; Vroom, Elizabeth; Welch, Ellen
    226th ENMC International Workshop : Towards validated and qualified biomarkers for therapy development for Duchenne muscular dystrophy 20–22 January 2017, Heemskerk, The Netherlands
    In: Neuromuscular Disorders Jg. 28 (2018) Nr. 1, S. 77 - 86
    Online Volltext: dx.doi.org/ (Open Access)
  • Crow, Rebecca A.; Hart, Kimberly A.; McDermott, Michael P.; Tawil, Rabi; Martens, William B.; Herr, Barbara E.; McColl, Elaine; Wilkinson, Jennifer; Kirschner, Janbernd; King, Wendy M.; Eagle, Michele; Brown, Mary W.; Hirtz, Deborah; Lochmuller, Hanns; Straub, Volker; Ciafaloni, Emma; Shieh, Perry B.; Spinty, Stefan; Childs, Anne-Marie; Manzur, Adnan Y.; Morandi, Lucia; Butterfield, Russell J.; Horrocks, Iain; Roper, Helen; Flanigan, Kevin M.; Kuntz, Nancy L.; Mah, Jean K.; Morrison, Leslie; Darras, Basil T.; von der Hagen, Maja; Schara, Ulrike; Wilichowski, Ekkehard; Mongini, Tiziana; McDonald, Craig M.; Vita, Giuseppe; Barohn, Richard J.; Finkel, Richard S.; Wicklund, Matthew; McMillan, Hugh J.; Hughes, Imelda; Pegoraro, Elena; Bryan Burnette, W.; Howard, James F.; Thangarajh, Mathula; Campbell, Craig; Griggs, Robert C.; Bushby, Kate; Guglieri, Michela
    A checklist for clinical trials in rare disease : Obstacles and anticipatory actions-lessons learned from the FOR-DMD trial
    In: Trials Jg. 19 (2018) Nr. 1, S. 291
    Online Volltext: dx.doi.org/ (Open Access)
  • D'Amico, A.; Lilien, C.; Schara, Ulrike; Dowling, J.; Bellance, R.; Chê, V.; Annoussamy, M.; Hernandez, A.; Hogrel, JR.; Darras, B.; Biancalana, V.; deLattre, C.; Servais, L.; Vuillerot, C.; Gidaro, T.; Daron, A.; Fontaine, S.; NatHis-MTM Study group; Landy, H.; Buj-Bello, A.; Mayer, M.
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    Online Volltext: dx.doi.org/
  • Topaloğlu, H.; Fischer, D.; Hafner, P.; Spinty, S.; Schara, Ulrike; Dorchies, O.; Orsini, A.; Schmidt, S.; Rubino-Nacht, D.; Nascimiento Osorio, A.
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    Online Volltext: dx.doi.org/
  • Hinze, Claas H.; Oommen, Prasad T.; Dressler, Frank; Urban, Andreas; Weller-Heinemann, Frank; Speth, Fabian; Lainka, Elke; Brunner, Jürgen; Fesq, Heike; Foell, Dirk; Müller-Felber, Wolfgang; Neudorf, Ulrich; Rietschel, Christoph; Schwarz, Tobias; Schara, Ulrike; Haas, Johannes-Peter
    Development of practice and consensus-based strategies including a treat-to-target approach for the management of moderate and severe juvenile dermatomyositis in Germany and Austria
    In: Pediatric Rheumatology Jg. 16 (2018) Nr. 1, S. 40
    Online Volltext: dx.doi.org/ (Open Access)
  • Tacke, Moritz; Borggraefe, Ingo; Gerstl, Lucia; Heinen, Florian; Vill, Katharina; Bonfert, Michaela; Bast, Thomas; Neubauer, Bernd Axel; Baumeister, Friedrich; Baethmann, Martina; Bentele, Karl; Blank, Christian; Blank, Harald M.; Bode, Harald; Bosch, Friedrich; Brandl, Ulrich; Brockmann, Knut; Dahlem, Peter; Ernst, Jan-Peter; Feldmann, Evemarie; Fiedler, Andreas; Gerigk, Michael; Heß, Soeren; Hikel, Christiane; Hoffmann, Hans-Georg; Kieslich, Matthias; Klepper, Jörg; Kluger, Gerhard; Koch, Hartmut; Koch, Walter; Korinthenberg, Rudolf; Krois, Ilona; Kühne, Hermann; Kurlemann, Gerhard; Mandl, Michaela; Mause, Ulrike; Navratil, Peter; Opp, Joachim; Penzien, Johann; Prietsch, Viola; Quattländer, Axel; Rating, Dietz; Schara, Ulrike; Shamdeen, Mohammed G.; Sprinz, Andreas; Wendker-Magrabi, Hildegard; Stephani, Ulrich; Muhle, Hiltrud; Straßburg, Hans-Michael; Töpke, Bärbel; Trollmann, Regina; Tuschen-Hofstätter, Elisabeth; Waltz, Stephan; Weber, Gabriele; Wien, Frank U.; Wolff, Markus; Polster, Tilman; Freitag, Hedwig; Sönmez, Ötzcam; Reinhardt, Klaus; Traus, Marion; Hoovey, Zeecam
    Effects of Levetiracetam and Sulthiame on EEG in benign epilepsy with centrotemporal spikes : A randomized controlled trial
    In: Seizure Jg. 56 (2018) S. 115 - 120
    Online Volltext: dx.doi.org/ (Open Access)
  • Pechmann, Astrid; Langer, Thorsten; Schorling, David; Stein, Sabine; Vogt, Sibylle; Schara, Ulrike; Kölbel, Heike; Schwartz, Oliver; Hahn, Andreas; Giese, Kerstin; Johannsen, Jessika; Denecke, Jonas; Weiß, Claudia; Theophil, Manuela; Kirschner, Janbernd
    Evaluation of children with SMA Type 1 under treatment with nusinersen within the expanded access program in Germany
    In: Journal of Neuromuscular Diseases Jg. 5 (2018) Nr. 2, S. 135 - 143
    Online Volltext: dx.doi.org/ (Open Access)
  • Neubauer, Bernd A; Schara, Ulrike; Gesellschaft für Neuropädiatrie
    In Memoriam : Professor Hermann Doose
    In: Neuropediatrics Jg. 49 (2018) Nr. 4, S. 299 - 300
    Online Volltext: dx.doi.org/ (Open Access)
  • Laugwitz, Lucia; Redler, Silke; Buchert, Rebecca; Sturm, Marc; Zeile, Irene; Schara, Ulrike; Wieczorek, Dagmar; Haack, Tobias; Distelmaier, Felix
    Isolated PREPL deficiency associated with congenital myasthenic syndrome-22
    In: Klinische Pädiatrie Jg. 230 (2018) Nr. 5, S. 281 - 283
    Online Volltext: dx.doi.org/
  • Della Marina, Adela; Schara, Ulrike
    Juvenile Myasthenia gravis
    In: Aktuelle Neurologie Jg. 45 (2018) Nr. 4, S. 283 - 287
    Online Volltext: dx.doi.org/
  • Petersen, Renate; Grümmer, Ruth; Jendrossek, Verena; Sauerwein, Wolfgang; Schara, Ulrike
    Mentoring in a medical faculty : A chance for organisational learning
    In: International Journal of Learning and Change Jg. 10 (2018) Nr. 3, S. 198 - 219
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  • Marina, A. Della; Kaiser, O.; Abicht, A.; Schara, Ulrike; Kölbel, H.; Stehling, Florian; Weis, J.
    Metabolic Myopathies II : P.355Glycogen storage disease type IV: a wide clinical range of neuromuscular phenotypes
    In: Neuromuscular Disorders Jg. 28 (2018) Nr. SUPPL. 2, S. S137
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  • Chabanon, Aurélie; Seferian, Andreea Mihaela; Daron, Aurore; Péréon, Yann; Cances, Claude; Vuillerot, Carole; De Waele, Liesbeth; Cuisset, Jean-Marie; Laugel, Vincent; Schara, Ulrike; Gidaro, Teresa; Gilabert, Stéphanie; Hogrel, Jean-Yves; Baudin, Pierre-Yves; Carlier, Pierre; Fournier, Emmanuel; Lowes, Linda Pax; Hellbach, Nicole; Seabrook, Timothy; Toledano, Elie; Annoussamy, Mélanie; Servais, Laurent
    Prospective and longitudinal natural history study of patients with Type 2 and 3 spinal muscular atrophy : Baseline data NatHis-SMA study
    In: PLoS ONE Jg. 13 (2018) Nr. 7, S. e0201004
    Online Volltext: dx.doi.org/ (Open Access)
  • Pingili, R.; Schara, Ulrike; Born, A.; Baranello, G.; Bertini, E.; Mancilla, B. Gomez; Praestgaard, J.; Deconinck, N.; Roubenoff, R.; Goemans, N.; Jullien de Pommerol, H.
    SMA Therapies II and Biomarkers : P.261Safety and efficacy of the oral splice modulator branaplam in type 1 spinal muscular atrophy
    In: Neuromuscular Disorders Jg. 28 (2018) Nr. SUPPL. 2, S. S110
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  • Piano Mortari, Eva; Folgiero, Valentina; Marcellini, Valentina; Romania, Paolo; Bellacchio, Emanuele; D'Alicandro, Valerio; Bocci, Chiara; Carrozzo, Rosalba; Martinelli, Diego; Petrini, Stefania; Axiotis, E.; Farroni, Chiara; Locatelli, Franco; Schara, Ulrike; Pilz, Daniela T.; Jungbluth, Heinz; Dionisi-Vici, Carlo; Carsetti, Rita
    The Vici syndrome protein EPG5 regulates intracellular nucleic acid trafficking linking autophagy to innate and adaptive immunity
    In: Autophagy Jg. 14 (2018) Nr. 1, S. 22 - 37
    Online Volltext: dx.doi.org/ Online Volltext (Open Access)
  • Schara, Ulrike; Fink, G.R.; von Moers, A.
    Transition von der Neuropädiatrie zur Neurologie bei neuromuskulären Erkrankungen
    In: Der Nervenarzt Jg. 89 (2018) Nr. 10, S. 1123 - 1130
    Online Volltext: dx.doi.org/
  • Rupprich, K.; Schara, Ulrike; Kaiser, O.; Della, A.; Sanchez-Albisua, I.; Kölbel, H.
    A rare cause of congenital ptosis with external ophthalmoplegia : case report and differential diagnosis
    In: Neuromuscular Disorders Jg. 27 (2017) Nr. Suppl. 2, S. S243
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  • Servais, L.; Daron, A.; Turk, S.; Seferian, A.; Laugel, V.; Péréon, Y.; Cuisset, J.; Cancès, C.; Baudin, P.; Chabanon, A.; Schara, Ulrike; Goemans, N.; Carlier, P.; Gargaun, E.; Annoussamy, M.; Hogrel, J.; Vuillerot, C.; Gidaro, T.; Hermosilla, R.; Fournier, E.; Group NatHis SMA Study
    Associations between NMR, electrophysiological, strength and function variables in SMA type 2 and 3
    In: Neuromuscular Disorders Jg. 27 (2017) Nr. SUPPL. 2, S. S224 - S225
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  • McDonald, Craig M; Campbell, Craig; Torricelli, Ricardo Erazo; Finkel, Richard S; Flanigan, Kevin M; Goemans, Nathalie; Heydemann, Peter; Kaminska, Anna; Kirschner, Janbernd; Muntoni, Francesco; Osorio, Andrés Nascimento; Schara, Ulrike; Sejersen, Thomas; Shieh, Perry B; Sweeney, H Lee; Topaloglu, Haluk; Tulinius, Már; Vilchez, Juan J; Voit, Thomas; Wong, Brenda; Elfring, Gary; Kroger, Hans; Luo, Xiaohui; McIntosh, Joseph; Ong, Tuyen; Riebling, Peter; Souza, Marcio; Spiegel, Robert J; Peltz, Stuart W; Mercuri, Eugenio; Alfano, Lindsay N; Eagle, Michelle; James, Meredith K; Lowes, Linda; Mayhew, Anna; Mazzone, Elena S; Nelson, Leslie; Rose, Kristy J; Abdel-Hamid, Hoda Z; Apkon, Susan D; Barohn, Richard J; Bertini, Enrico; Bloetzer, Clemens; de Vaud, Lausanne Canton; Butterfield, Russell J; Chabrol, Brigitte; Chae, Jong-Hee; Jongno-gu, Daehak-ro; Comi, Giacomi Pietro; Darras, Basil T; Dastgir, Jahannaz; Desguerre, Isabelle; Escobar, Raul G; Finanger, Erika; Guglieri, Michela; Hughes, Imelda; Iannaccone, Susan T; Jones, Kristi J; Karachunski, Peter; Kudr, Martin; Lotze, Timothy; Mah, Jean K; Mathews, Katherine; Nevo, Yoram; Parsons, Julie; Péréon, Yann; de Queiroz Campos Araujo, Alexandra Prufer; Renfroe, J Ben; de Resende, Maria Bernadete Dutra; Ryan, Monique; Selby, Kathryn; Tennekoon, Gihan; Vita, Giuseppe
    Ataluren in patients with nonsense mutation Duchenne muscular dystrophy (ACT DMD) : a multicentre, randomised, double-blind, placebo-controlled, phase 3 trial
    In: Lancet Jg. 390 (2017) Nr. 10101, S. 1489 - 1498
    Online Volltext: dx.doi.org/ (Open Access)
  • Meier, Thomas; Rummey, Christian; Leinonen, Mika; Spagnolo, Paolo; Mayer, Oscar H.; Buyse, Gunnar M.; Bernert, G.; Knipp, F.; Goemans, N.; Van den Hauwe, M.; Voit, Thomas; Doppler, V.; Gidaro, T.; Cuisset, J.-M.; Coopman, S.; Schara, Ulrike; Lutz, Sabine; Kirschner, J.; Borell, S.; Will, M.; D'Angelo, M.G.; Brighina, E.; Gandossini, S.; Gorni, K.; Falcier, E.; Politano, L.; D'Ambrosio, P.; Taglia, A.; Verschuuren, J.J.G.M.; Straathof, C.S.M.; Vílchez Padilla, J.J.; Muelas Gómez, N.; Sejersen, T.; Hovmöller, M.; Jeannet, P.-Y.; Bloetzer, C.; Iannaccone, S.; Castro, D.; Tennekoon, G.; Finkel, R.; Bönnemann, C.; McDonald, C.; Henricson, E.; Joyce, N.; Apkon, S.; Richardson, R.C.
    Characterization of pulmonary function in 10–18 year old patients with Duchenne muscular dystrophy
    In: Neuromuscular Disorders Jg. 27 (2017) Nr. 4, S. 307 - 314
    Online Volltext: dx.doi.org/ (Open Access)
  • Wang, Haicui; Salter, Claire G.; Refai, Osama; Hardy, Holly; Barwick, Katy E. S.; Akpulat, Ugur; Kvarnung, Malin; Chioza, Barry A.; Harlalka, Gaurav; Taylan, Fulya; Sejersen, Thomas; Wright, Jane; Zimmerman, Holly H.; Karakaya, Mert; Stüve, Burkhardt; Weis, Joachim; Schara, Ulrike; Russell, Mark A.; Abdul-Rahman, Omar A.; Chilton, John; Blakely, Randy D.; Baple, Emma L; Cirak, Sebahattin; Crosby, Andrew H.
    Choline transporter mutations in severe congenital myasthenic syndrome disrupt transporter localization
    In: Brain: A Journal of Neurology Jg. 140 (2017) Nr. 11, S. 2838 - 2850
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  • Kölbel, Heike; Hauffa, Berthold; Wudy, Stefan A; Bouikidis, Anastasios; Della Marina, Adela; Schara, Ulrike
    Correction : Hyperleptinemia in children with autosomal recessive spinal muscular atrophy type I-III
    In: PLoS ONE Jg. 12 (2017) Nr. 4, S. e0175611
    Online Volltext: dx.doi.org/ (Open Access)
  • Zaum, Ann-Kathrin; Stüve, Burkhard; Gehrig, Andrea; Kölbel, Heike; Schara, Ulrike; Kress, Wolfram; Rost, Simone
    Deep intronic variants introduce DMD pseudoexon in patient with muscular dystrophy
    In: Neuromuscular Disorders Jg. 27 (2017) Nr. 7, S. 631 - 634
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  • Guglieri, Michela; Bushby, Kate; McDermott, Michael P.; Hart, Kimberly A.; Tawil, Rabi; Martens, William B.; Herr, Barbara E.; McColl, Elaine; Wilkinson, Jennifer; Kirschner, Janbernd; King, Wendy M.; Eagle, Michele; Brown, Mary W.; Willis, Tracey; Hirtz, Deborah; Shieh, Perry B.; Straub, Volker; Childs, Anne-Marie; Ciafaloni, Emma; Butterfield, Russell J.; Horrocks, Iain; Spinty, Stefan; Flanigan, Kevin M.; Kuntz, Nancy L.; Baranello, Giovanni; Roper, Helen; Morrison, Leslie; Mah, Jean K.; Manzur, Adnan Y.; McDonald, Craig M.; Schara, Ulrike; von der Hagen, Maja; Barohn, Richard J.; Campbell, Craig; Darras, Basil T.; Finkel, Richard S.; Vita, Giuseppe; Hughes, Imelda; Mongini, Tiziana; Pegoraro, Elena; Wicklund, Matthew; Wilichowski, Ekkehard; Bryan Burnette, W.; Howard, James F.; McMillan, Hugh J.; Thangarajh, Mathula; Griggs, Robert C.
    Developing standardized corticosteroid treatment for Duchenne muscular dystrophy
    In: Contemporary Clinical Trials Jg. 58 (2017) S. 34 - 39
    Online Volltext: dx.doi.org/ Online Volltext (Open Access)
  • Kölbel, Heike; Hauffa, Berthold; Wudy, Stefan A.; Bouikidis, Anastasios; Marina, Adela Della; Schara, Ulrike
    Hyperleptinemia in children with autosomal recessive spinal muscular atrophy type I-III
    In: PLoS ONE Jg. 12 (2017) Nr. 3, S. e0173144
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  • Buj-Bello, A.; Fontaine, S.; Annoussamy, M.; Hogrel, J.; Mayer, M.; Cuisset, J.; Biancalana, V.; Gidaro, T.; Vuillerot, C.; Bellance, R.; de Lattre, C.; Schara, Ulrike; Chê, V.; Servais, L.; Landy, H.; D'Amico, A.; Daron, A.; Gargaun, E.; Lilien, C.; Hernandez, A.
    Longitudinal data of patients with myotubular myopathy enrolled in a European prospective and longitudinal natural history study
    In: Neuromuscular Disorders Jg. 27 (2017) Nr. Suppl. 2, S. S170
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  • Hermosilla, R.; Seferian, A.; Daron, A.; Gidaro, T.; Servais, L.; Khwaja, O.; Annoussamy, M.; Czech, C.; Hogrel, J.; Carlier, P.; Schara, Ulrike; Cances, C.; Lowes, L.; Cuisset, J.; Laugel, V.; Vuillerot, C.; Chabanon, A.; Goemans, N.; Pereon, Y.; Gargaun, E.
    Longitudinal data of the European prospective natural history study of patients with type 2 and 3 spinal muscular atrophy
    In: Neuromuscular Disorders Jg. 27 (2017) Nr. Suppl. 2, S. S134
    Online Volltext: dx.doi.org/
  • Servais, L.; deLattre, C.; Landy, H.; Biancalana, V.; Mayer, M.; Vuillerot, C.; Fontaine, S.; Hernandez, A.; Gidaro, T.; D'Amico, A.; Gargaun, E.; Hogrel, J.; Bellance, R.; Daron, A.; Chê, V.; Annoussamy, M.; Lilien, C.; Cuisset, J.; Schara, Ulrike; Buj-Bello, A.
    New myotubular myopathy classification
    In: Neuromuscular Disorders Jg. 27 (2017) Nr. Suppl. 2, S. S169
    Online Volltext: dx.doi.org/
  • Della Marina, Adela; Kölbel, Heike; Müllers, Maximilian; Kaiser, Olaf; Ismail, Mahmoud; Swierzy, Marc; Rueckert, Jens-Carsten; Schara, Ulrike
    Outcome after Robotic-Assisted Thymectomy in Children and Adolescents with Acetylcholine Receptor Antibody-Positive Juvenile Myasthenia Gravis
    In: Neuropediatrics Jg. 48 (2017) Nr. 4, S. 315 - 322
    Online Volltext: dx.doi.org/
  • Dzietko, M.; Schara, Ulrike; Felderhoff-Müser, Ursula
    Perinataler Schlaganfall und Sinusvenenthrombose : Klinik, Diagnostik und therapeutische Ansätze
    In: Monatsschrift Kinderheilkunde Jg. 165 (2017) Nr. 7, S. 596 - 604
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  • Refai, O.; Baple, E.; Sejersen, T.; Hardy, H.; Salter, S.; Abdul-Rahman, O.; Chilton, J.; Blakely, R.; Wright, J.; Crosby, A.; Wang, H.; Russell, M.; Schara, Ulrike; Weis, J.; Zimmerman, H.; Cirak, S.
    Recessively-acting choline transporter mutations associated with severe congenital myasthenia disrupt transporter surface trafficking in vitro and in vivo
    In: Neuromuscular Disorders Jg. 27 (2017) Nr. SUPPL. 2, S. S220 - S221
    Online Volltext: dx.doi.org/
  • Praestgaard, J.; Berghs-Clairmont, C.; Hartmann, A.; Peters, T.; de Raspide, M.; Schara, Ulrike; Voltz, E.; Bertini, E.; Roubenoff, R.; Goemans, N.; Born, A.; Deconinck, N.; Pfister, C.; Baranello, G.; Charnas, L.
    Safety and efficacy findings in the first-in-human trial (FIH) of the oral splice modulator branaplam in type 1 spinal muscular atrophy (SMA) : interim results
    In: Neuromuscular Disorders Jg. 27 (2017) Nr. Suppl. 2, S. S207 - S208
    Online Volltext: dx.doi.org/
  • Vill, K.; Blaschek, A.; Schara, Ulrike; Kölbel, H.; Hohenfellner, K.; Harms, E.; Olgemöller, B.; Walter, Maggie C.; Müller-Felber, W.
    Spinale Muskelatrophie : Zeit für das Neugeborenenscreening?
    In: Der Nervenarzt Jg. 88 (2017) Nr. 12, S. 1358 - 1366
    Online Volltext: dx.doi.org/
  • Schara, Ulrike; Della Marina, A.
    Therapie von Erkrankungen der neuromuskulären Endplatte im Kindes- und Jugendalter
    In: Nervenheilkunde Jg. 36 (2017) Nr. 1-2, S. 44 - 47
  • Buyse, G.M.; Voit, Thomas; Schara, Ulrike; Straathof, C.S.M.; D’Angelo, M.G.; Bernert, G.; Cuisset, J.-M.; Finkel, Richard S.; Goemans, N.; Rummey, Christian; Leinonen, Mika; Mayer, Oscar H.; Spagnolo, Paolo; Meier, Thomas; McDonald, Craig M.; Knipp, F.; Van den Hauwe, M.; Doppler, V.; Gidaro, T.; Coopman, S.; Lutz, S.; Kirschner, J.; Borell, S.; Will, M.; Brighina, E.; Gandossini, S.; Gorni, K.; Falcier, E.; Politano, L.; D’Ambrosio, P.; Taglia, A.; Verschuuren, J.J.G.M.; Vílchez Padilla, J.J.; Muelas Gómez, N.; Sejersen, T.; Hovmöller, M.; Jeannet, P.-Y.; Bloetzer, C.; Iannaccone, S.; Castro, D.; Tennekoon, G.; Bönnemann, C.; Henricson, E.; Joyce, N.; Apkon, S.; Richardson, R.C.
    Treatment effect of idebenone on inspiratory function in patients with Duchenne muscular dystrophy
    In: Pediatric Pulmonology Jg. 52 (2017) Nr. 4, S. 508 - 515
    Online Volltext: dx.doi.org/ (Open Access)
  • Schara, Ulrike; Lücke, Thomas
    Abstracts of the 42nd Annual Meeting of the Society for Neuropediatrics
    In: Neuropediatrics Jg. 47 (2016) Nr. S 01, S. e1
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  • Chabanon, A.; Pereon, Y.; Daron, A.; Cances, C.; Vuillerot, C.; Fontaine, S.; Goemans, N.; De Waele, L.; Laugel, V.; Cuisset, J.; Schara, Ulrike; Gangfuss, A.; Gidaro, T.; Gargaun, E.; Marquet, A.; Villeret, M.; Phelep, A.; Annoussamy, M.; Servais, L.
    Baseline data from a European prospective and longitudinal natural history study of patients with type 2 and 3 spinal muscular atrophy - NatHis-SMA
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  • Annoussamy, M.; Lilien, C.; Gidaro, T.; Gargaun, E.; Che, V.; Schara, Ulrike; Gangfuss, A.; Daron, A.; Cuisset, J.; Mayer, M.; Arnal, J.; Hernandez, A.; Vuillerot, C.; Fontaine, S.; Biancalana, V.; Buj-Bello, A.; Hogrel, J.; Landy, H.; Servais, L.
    Baseline data from patients with myotubular myopathy enrolled in a European prospective and longitudinal natural history study
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  • Jansen, Jos C.; Cirak, Sebahattin; van Scherpenzeel, Monique; Timal, Sharita; Reunert, Janine; Rust, Stephan; Pérez, Belén; Vicogne, Dorothée; Krawitz, Peter; Wada, Yoshinao; Ashikov, Angel; Pérez-Cerdá, Celia; Medrano, Celia; Arnoldy, Andrea; Hoischen, Alexander; Huijben, Karin; Steenbergen, Gerry; Quelhas, Dulce; Diogo, Luisa; Rymen, Daisy; Jaeken, Jaak; Guffon, Nathalie; Cheillan, David; van den Heuvel, Lambertus P.; Maeda, Yusuke; Kaiser, Olaf; Schara, Ulrike; Gerner, Patrick; van den Boogert, Marjolein A.W.; Holleboom, Adriaan G.; Nassogne, Marie-Cécile; Sokal, Etienne; Salomon, Jody; van den Bogaart, Geert; Drenth, Joost P.H.; Huynen, Martijn A.; Veltman, Joris A.; Wevers, Ron A.; Morava, Eva; Matthijs, Gert; Foulquier, François; Marquardt, Thorsten; Lefeber, Dirk J.
    CCDC115 Deficiency Causes a Disorder of Golgi Homeostasis with Abnormal Protein Glycosylation
    In: American Journal of Human Genetics Jg. 98 (2016) Nr. 2, S. 310 - 321
    Online Volltext: dx.doi.org/ (Open Access)
  • Schara, Ulrike
    Congenital and childhood-onset myotonic dystrophy : importance of long-term data in natural history
    In: Developmental Medicine & Child Neurology Jg. 58 (2016) Nr. 7, S. 652
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  • Rudnik-Schöneborn, Sabine S.; Tölle, D.; Senderek, Jan; Eggermann, Katja; Elbracht, Miriam; Kornak, Uwe; von der Hagen, Maja; Kirschner, Janbernd; Leube, Barbara; Müller-Felber, Wolfgang; Schara, Ulrike; von Au, Katja; Wieczorek, David W.; Bußmann, C.; Zerres, Klaus P.
    Diagnostic algorithms in Charcot-Marie-Tooth neuropathie : Experiences from a German genetic laboratory on the basis of 1206 index patients
    In: Clinical Genetics Jg. 89 (2016) Nr. 1, S. 34 - 43
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  • Preuße, Corinna; Allenbach, Yves; Hoffmann, Olaf; Goebel, Hans-Hilmar; Pehl, Debora; Radke, Josefine; Doeser, Alexandra; Schneider, Udo; Alten, Rieke H E; Kallinich, Tilmann; Benveniste, Olivier; von Moers, Arpad; Schoser, Benedikt; Schara, Ulrike; Stenzel, Werner
    Differential roles of hypoxia and innate immunity in juvenile and adult dermatomyositis
    In: Acta Neuropathologica Communications Jg. 4 (2016) Nr. 1, S. 45
    Online Volltext: dx.doi.org/ (Open Access)
  • Byrne, Susan; Jansen, Lara; U-King-Im, Jean-Marie; Siddiqui, Ata; Lidov, Hart G W; Bodi, Istvan; Smith, Luke; Mein, Rachael; Cullup, Thomas; Dionisi-Vici, Carlo; Al-Gazali, Lihadh; Al-Owain, Mohammed; Bruwer, Zandre; Al Thihli, Khalid; El-Garhy, Rana; Flanigan, Kevin M; Manickam, Kandamurugu; Zmuda, Erik; Banks, Wesley; Gershoni-Baruch, Ruth; Mandel, Hanna; Dagan, Efrat; Raas-Rothschild, Annick; Barash, Hila; Filloux, Francis; Creel, Donnell; Harris, Michael; Hamosh, Ada; Kölker, Stefan; Ebrahimi-Fakhari, Darius; Hoffmann, Georg F; Manchester, David; Boyer, Philip J; Manzur, Adnan Y; Lourenco, Charles Marques; Pilz, Daniela T; Kamath, Arveen; Prabhakar, Prab; Rao, Vamshi K; Rogers, R Curtis; Ryan, Monique M; Brown, Natasha J; McLean, Catriona A; Said, Edith; Schara, Ulrike; Stein, Anja; Sewry, Caroline; Travan, Laura; Wijburg, Frits A; Zenker, Martin; Mohammed, Shehla; Fanto, Manolis; Gautel, Mathias; Jungbluth, Heinz
    EPG5-related Vici syndrome : a paradigm of neurodevelopmental disorders with defective autophagy
    In: Brain: A Journal of Neurology Jg. 139 (2016) Nr. 3, S. 765 - 781
    Online Volltext: dx.doi.org/ (Open Access)
  • Seferian, A.; Quicke, G.; Gidaro, T.; Gargaun, E.; Gasnier, E.; Pereon, Y.; Daron, A.; Cances, C.; Vuillerot, C.; Goemans, N.; Laugel, V.; Cuisset, J.; Schara, Ulrike; Marquet, A.; Chabanon, A.; Annoussamy, M.; Vissiere, D.; Servais, L.
    Feasibility of magneto-inertial motion analysis in non-ambulant patients with spinal muscular atrophy
    In: Neuromuscular Disorders Jg. 26 (2016) Nr. Suppl. 2, S. 102
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  • Meier, Thomas; Voit, Thomas; Schara, Ulrike; Straathof, Chiara S. M.; D'Angelo, M. Grazia; Bernert, Günther; Cuisset, Jean-Marie; Finkel, Richard S.; Goemans, Nathalie; Rummey, Christian; Leinonen, Mika; Spagnolo, Paolo; Buyse, Gunnar M.; Knipp, F.; Buyse, Gunnar M.; Hauwe, M. van den; Doppler, V.; Gidaro, T.; Cuisset, J.-M.; Coopman, S.; Lutz, Sabine; Kirschner, J.; Borell, S.; Will, M.; D'Angelo, M. G.; Brighina, E.; Gandossini, S.; Gorni, K.; Falcier, E.; Politano, L.; D'Ambrosio, P.; Taglia, A.; Verschuuren, J. J. G. M.; Straathof, C. S. M.; Vílchez Padilla, J. J.; Muelas Gómez, N.; Sejersen, T.; Hovmöller, M.; Jeannet, P.-Y.; Bloetzer, C.; Iannaccone, S.; Castro, D.; Tennekoon, G.; Bönnemann, C.; McDonald, C.; Henricson, E.; Joyce, N.; Apkon, S.; Richardson, R. C.
    Idebenone reduces respiratory complications in patients with Duchenne muscular dystrophy
    In: Neuromuscular Disorders Jg. 26 (2016) Nr. 8, S. 473 - 480
    Online Volltext: dx.doi.org/ (Open Access)
  • Meier, T.; Buyse, G.; Finkel, R.; Voit, Thomas; Cuisset, J.; McDonald, C.; Goemans, N.; Leinonen, M.; Bernert, G.; Straathof, C.; D'Angelo, M.; Schara, Ulrike; Rummey, C.; Spagnolo, P.
    Idebenone reduces respiratory complications in patients with Duchenne muscular dystrophy
    In: Neuromuscular Disorders Jg. 26 (2016) Nr. Suppl. 2, S. S156
    Online Volltext: dx.doi.org/
  • Schara, Ulrike; Lücke, Thomas
    Invitation and a Warm Welcome to the 42nd Annual Meeting of the Society for Neuropediatrics
    In: Neuropediatrics Jg. 47 (2016) Nr. 2, S. 69
    Online Volltext: dx.doi.org/
  • Lubojanski, A.; Lutz, Sören; Kölbel, H.; Bouikidis, Anastasios; Schara, Ulrike
    Kleinkind mit sich früh entwickelnder Neuropathie, Klumpfüßen und im Verlauf zunehmender Schwäche der Atemmuskulatur
    In: Monatsschrift Kinderheilkunde Jg. 164 (2016) Nr. 2, S. 86 - 88
    Online Volltext: dx.doi.org/
  • Schara, Ulrike; Brand, L.; Preusse, C.; von Moers, A.; Kolbel, H.; Stenzel, W.
    LGMD2I elicits a specific skeletal muscle immune response
    In: Neuromuscular Disorders Jg. 26 (2016) Nr. Suppl. 2, S. 92
    Online Volltext: dx.doi.org/
  • Lane, Maria; Gerner, Patrick; Schara, Ulrike; Holinski-Feder, Elke; Abicht, Angela; Dineiger, Christine; Kleinle, Stephanie; Griffiths, Alexandra; Langer, Thorsten; Gomez-Duran, Aurora; Bachtari, Sahar; Boczonadi, Veronika
    Mitochondrial dysfunction in liver failure requiring transplantation
    In: Journal of Inherited Metabolic Disease (JIMD) Jg. 39 (2016) Nr. 3, S. 427 - 436
    Online Volltext: dx.doi.org/ (Open Access)
  • Kölbel, H.; Schwartz, O.; Neuen-Jacob, E.; Abicht, A.; Weis, J.; Schara, Ulrike
    Nesprinopathies : A wide clinical range of phenotypes and characteristic ultrastructural findings
    In: Neuromuscular Disorders Jg. 26 (2016) Nr. Suppl. 2, S. S139 - S139
    Online Volltext: dx.doi.org/
  • Buyse, G.; Voit, Thomas; Schara, Ulrike; Straathof, C.; DAngelo, M.; Bernert, G.; Cuisset, J.; Finkel, R.; Goemans, N.; Rummey, C.; Leinonen, M.; Mayer, O.; Spagnolo, P.; Meier, T.; McDonald, C.
    Treatment effect of idebenone on inspiratory function in patients with Duchenne muscular dystrophy
    In: Neuromuscular Disorders Jg. 26 (2016) Nr. Suppl. 2, S. S156 - S157
    Online Volltext: dx.doi.org/ Online Volltext (Open Access)
  • Annoussamy, M.; Chabanon, A.; Phelep, A.; Hogrel, J. Y.; Carlier, P.; Fournier, E.; Hermosilla, R.; Ramey, G.; Czech, C.; Lowes, L.; Pereon, Y.; Cances, C.; Cuisset, J.; Laugel, V.; Vuillerot, C.; Daron, A.; Goemans, N.; Schara, Ulrike; Voit, Thomas; Servais, L.
    A European prospective study of the natural history of patients with type 2 and 3 spinal muscular atrophy
    In: Neuromuscular Disorders Jg. 25 (2015) Nr. Suppl. 2, S. 195
    Online Volltext: dx.doi.org/
  • Schelhorn, Juliane; Schoenecker, Anne; Neudorf, Ulrich; Schemuth, Haemi; Nensa, Felix; Naßenstein, Kai; Forsting, Michael; Schara, Ulrike; Schlosser, Thomas Wilfried
    Cardiac pathologies in female carriers of Duchenne muscular dystrophy assessed by cardiovascular magnetic resonance imaging
    In: European Radiology Jg. 25 (2015) Nr. 10, S. 3066 - 3072
    Online Volltext: dx.doi.org/
  • Schara, Ulrike; Busse, Melanie; Timmann-Braun, Dagmar; Gerwig, Marcus-Albert
    Cerebellar-Dependent Associative Learning Is Preserved in Duchenne Muscular Dystrophy : A Study Using Delay Eyeblink Conditioning
    In: PLoS ONE Jg. 10 (2015) Nr. 5, S. e0126528
    Online Volltext: dx.doi.org/ (Open Access)
  • Buyse, Gunnar M; Voit, Thomas; Schara, Ulrike; Straathof, Chiara S M; D'Angelo, M Grazia; Bernert, Günther; Cuisset, Jean-Marie; Finkel, Richard S; Goemans, Nathalie; McDonald, Craig M; Rummey, Christian; Meier, Thomas; DELOS Study Group; Lutz, S
    Efficacy of idebenone on respiratory function in patients with Duchenne muscular dystrophy not using glucocorticoids (DELOS) : a double-blind randomised placebo-controlled phase 3 trial
    In: Lancet Jg. 385 (2015) Nr. 9979, S. 1748 - 1757
    Online Volltext: dx.doi.org/
  • Boczonadi, Veronika; Giunta, Michele; Lane, Maria; Tulinius, Mar; Schara, Ulrike; Horvath, Rita
    Investigating the role of the physiological isoform switch of cytochrome c oxidase subunits in reversible mitochondrial disease
    In: The International Journal of Biochemistry & Cell Biology Jg. 63 (2015) S. 32 - 40
    Online Volltext: dx.doi.org/
  • Spönemann, N.; Della Marina, A.; Finetti, C.; Schara, Ulrike; Lutz, Sabine
    Isolierte Ataxie als Erstsymptom eines thorakalen Neuroblastoms : Das Opsoklonus-Myoklonus- Syndrom
    In: Chirurgische Praxis Jg. 80 (2015) Nr. 2, S. 283 - 291
  • Koelbel, H.; Hauffa, Berthold; Boukidis, A.; Lutz, S.; Della-Marina, A.; Schara, Ulrike
    Low ovarian reserve in girls with autosomal-recessive proximal spinal muscular atrophies type I-III
    In: Neuromuscular Disorders Jg. 25 (2015) Nr. Suppl. 2, S. 196
    Online Volltext: dx.doi.org/
  • Stehling, Florian; Bouikidis, Anastasios; Schara, Ulrike; Mellies, Uwe
    Mechanical insufflation/exsufflation improves vital capacity in neuromuscular disorders
    In: Chronic Respiratory Disease Jg. 12 (2015) Nr. 1, S. 31 - 35
    Online Volltext: dx.doi.org/ (Open Access)
  • Buyse, G.; Voit, Thomas; Schara, Ulrike; Straathof, C.; D'Angelo, M.; Bernert, G.; Cuisset, J.; Finkel, R.; Goemans, N.; McDonald, C.; Rummey, C.; Meier, T.
    Natural history of respiratory function changes in patients with Duchenne muscular dystrophy not using glucocorticoid steroids
    In: Neuromuscular Disorders Jg. 25 (2015) Nr. Suppl. 2, S. 305
    Online Volltext: dx.doi.org/
  • Schottmann, Gudrun; Jungbluth, Heinz; Schara, Ulrike; Knierim, Ellen; Morales Gonzalez, Susanne; Gill, Esther; Seifert, Franziska; Norwood, Fiona; Deshpande, Charu; von Au, Katja; Schuelke, Markus; Senderek, Jan
    Recessive truncating IGHMBP2 mutations presenting as axonal sensorimotor neuropathy
    In: Neurology Jg. 84 (2015) Nr. 5, S. 523 - 531
    Online Volltext: dx.doi.org/
  • Preasse, C.; Allenbach, Y.; Goebel, H.; Pehl, D.; Radke, J.; Schneider, U.; Vorgerd, M.; von Moers, A.; Schoser, B.; Schara, Ulrike; Stenzel, W.
    Roles of hypoxia and innate immune mechanisms in juvenile and adult dermatomyositis
    In: Neuromuscular Disorders Jg. 25 (2015) Nr. Suppl. 2, S. 246
    Online Volltext: dx.doi.org/
  • Tschiedel, Eva Charlotte; Muller, O.; Schara, Ulrike; Felderhoff-Muser, U.; Dohna-Schwake, Christian
    Sedation monitoring during open muscle biopsy in children by Comfort Score and Bispectral Index - a prospective analysis
    In: Pediatric Anesthesia Jg. 25 (2015) Nr. 3, S. 265 - 271
    Online Volltext: dx.doi.org/
  • Euro, Liliya; Konovalova, Svetlana; Asin-Cayuela, Jorge; Tulinius, Már; Griffin, Helen; Horvath, Rita; Taylor, Robert W; Chinnery, Patrick F; Schara, Ulrike; Thorburn, David R; Suomalainen, Anu; Chihade, Joseph; Tyynismaa, Henna
    Structural modeling of tissue-specific mitochondrial alanyl-tRNA synthetase (AARS2) defects predicts differential effects on aminoacylation
    In: Front Genet Jg. 6 (2015) S. 21
    Online Volltext: dx.doi.org/ (Open Access)
  • Hörster, Irina; Weigt-Usinger, Katharina; Carmann, Christina; Chobanyan-Jürgens, Kristine; Köhler, Cornelia; Schara, Ulrike; Kayacelebi, Arslan Arinc; Beckmann, Bibiana; Tsikas, Dimitrios; Lücke, Thomas
    The L-arginine/NO pathway and homoarginine are altered in Duchenne muscular dystrophy and improved by glucocorticoids
    In: Amino Acids Jg. 47 (2015) Nr. 9, S. 1853 - 1863
    Online Volltext: dx.doi.org/
  • Meier, T.; Rummey, C.; Leinonen, M.; Voit, T.; Schara, Ulrike; Straathof, C.; D'Angelo, M.; Bernert, G.; Cuisset, J.; Finkel, R.; Goemans, N.; McDonald, C.; Buyse, G.
    The use of a hand-held device (ASMA-1) for home-based monitoring of respiratory function changes in pediatric and adolescent patients with Duchenne muscular dystrophy
    In: Neuromuscular Disorders Jg. 25 (2015) Nr. Suppl. 2, S. 201
    Online Volltext: dx.doi.org/
  • Wiesweg, M; Aydin, S; Köninger, Angela; Stein, Anja; Schara, Ulrike; van Roye, C; Hense, Jörg; Welt, Anja; Schuler, Martin
    Administration of Gemcitabine for Metastatic Adenocarcinoma during Pregnancy : A Case Report and Review of the Literature
    In: American Journal of Perinatology Reports Jg. 4 (2014) Nr. 1, S. 017 - 022
    Online Volltext: dx.doi.org/ (Open Access)
  • Annoussamy, M.; Landy, H.; Ramsdell, D.; Nelken, M.; Muntoni, F.; Bonnemann, C.; Bharucha, D.; Dowling, J. J.; Amburgey, K.; Lilien, C.; Ollivier, G.; Laporte, J.; Biancalana, V.; Schara, Ulrike; Cuisset, J. M.; DAmico, A.; Deconinck, N.; Jeannet, P. Y.; Klein, A.; Fluss, J.; Mayer, M.; Seferian, A. M.; Le Moing, A. G.; Gidaro, T.; Hogrel, J. Y.; Mingozzi, F.; Buj-Bello, A.; Voit, Thomas; Servais, L.
    An international prospective, longitudinal study of the natural history and functional status of patients with myotubular myopathy
    In: Neuromuscular Disorders Jg. 24 (2014) Nr. 9-10, S. 806 - 806
    Online Volltext: dx.doi.org/
  • Elbracht, Miriam; Senderek, Jan; Schara, Ulrike; Nolte, Kay Wilhelm; Klopstock, Thomas; Roos, Andreas C.; Reimann, Jens; Zerres, Klaus P.; Weis, Joachim A.; Rudnik-Schöneborn, Sabine
    Clinical and morphological variability of the E396K mutation in the neurofilament light chain gene in patients with Charcot-Marie-Tooth disease type 2E
    In: Clinical Neuropathology Jg. 33 (2014) Nr. 5, S. 335 - 343
    Online Volltext: dx.doi.org/
  • Schoenecker, A.; Schelhorn, J.; Schlosser, Thomas Wilfried; Neudorf, Ulrich; Schara, Ulrike
    Evaluation of cardiologic status in carriers of Duchenne Muscular Dystrophy
    In: Neuromuscular Disorders Jg. 24 (2014) Nr. 9-10, S. 859 - 860
    Online Volltext: dx.doi.org/
  • Trippe, H.; Boukidis, A.; Hauffa, Berthold; Konrad, K.; Schara, Ulrike
    Growth and endocrinological evaluation in spinal muscular atrophies – A single centre study of 43 pediatric patients
    In: Neuromuscular Disorders Jg. 24 (2014) Nr. 9-10, S. 887
    Online Volltext: dx.doi.org/
  • Sarrazin, E.; Hagen, M. V.; Schara, Ulrike; von Au, K.; Kaindl, A. M.
    Growth and psychomotor development of patients with Duchenne muscular dystrophy
    In: European Journal of Paediatric Neurology Jg. 18 (2014) Nr. 1, S. 38 - 44
    Online Volltext: dx.doi.org/
  • Spönemann, N.; Della~Marina, A.; Finetti, C.; Schara, Ulrike; Lutz, S.
    Isolierte Ataxie als Erstsymptom eines thorakalen Neuroblastoms : Das Opsoklonus-Myoklonus-Syndrom
    In: Pädiatrische Praxis Jg. 82 (2014) Nr. 3, S. 407 - 415
  • Della~Marina, Adela; Trippe, Heike; Lutz, Soeren; Schara, Ulrike
    Juvenile myasthenia gravis : Recommendations for diagnostic approaches and treatment
    In: Neuropediatrics Jg. 45 (2014) Nr. 2, S. 75 - 83
    Online Volltext: dx.doi.org/
  • Schara, Ulrike
    Mitteilungen aus der Gesellschaft für Neuropädiatrie
    In: Neuropediatrics Jg. 45 (2014) Nr. 2, S. 132 - 132
    Online Volltext: dx.doi.org/
  • Dessaud, E.; Andre, C.; Scherrer, B.; Berna, P.; Pruss, R.; Cuvier, V.; Hauke, W.; Bruno, C.; Chabrol, B.; Comi, G.; Cuisset, J. M.; Deconinck, N.; Goemans, N.; Estournet, B.; Fontaine-Carbonel, S.; Gorni, K.; Kirschner, J.; Lusakowska, A.; Lochmuller, H.; Mayer, M.; Mercuri, E.; Mueller-Felber, W.; Muntoni, F.; Rivier, F.; Roper, H.; Schara, Ulrike; Van den Berg, L.; Vita, G.; Walter, M.; Bertini, E.
    Results of a phase II study to assess safety and efficacy of olesoxime (TRO19622) in 3-25 years old spinal muscular atrophy patients
    In: Neuromuscular Disorders Jg. 24 (2014) Nr. 9-10, S. 920 - 921
    Online Volltext: dx.doi.org/
  • Kirschner, J.; Schorling, D.; Hauschke, D.; Rensing-Zimmermann, C.; Wein, U.; Grieben, U.; Schottmann, G.; Schara, Ulrike; Konrad, K.; Müller-Felber, W.; Thiele, S.; Wilichowski, E.; Hobbiebrunken, E.; Stettner, G. M.; Korinthenberg, R.
    Somatropin treatment of spinal muscular atrophy : A placebo-controlled, double-blind crossover pilot study
    In: Neuromuscular Disorders Jg. 24 (2014) Nr. 2, S. 134 - 142
    Online Volltext: dx.doi.org/
  • Taylor, Robert W.; Pyle, Angela; Griffin, Helen; Blakely, Emma L.; Duff, J.; He, L.; Smertenko, T.; Alston, C. L.; Neeve, V. C.; Best, A.; Yarham, J. W.; Kirschner, J.; Schara, Ulrike; Talim, B.; Topaloglu, H.; Baric, I.; Holinski-Feder, E.; Abicht, A.; Czermin, B.; Kleinle, S.; Morris, Andrew A. M.; Vassallo, G.; Gorman, G. S.; Ramesh, V.; Turnbull, D. M.; Santibanez-Koref, M.; McFarland, R.; Horvath, R.; Chinnery, P. F.
    Use of whole-exome sequencing to determine the genetic basis of multiple mitochondrial respiratory chain complex deficiencies
    In: JAMA: Journal of the American Medical Association Jg. 312 (2014) Nr. 1, S. 68 - 77
    Online Volltext: dx.doi.org/ (Open Access)
  • Trippe, Heike; Wieczorek, Stefan; Kötting, Judith; Kress, Wolfram; Schara, Ulrike
    Xp21/A Translocation : A Rarely Considered Genetic Cause for Manifesting Carriers of Duchenne Muscular Dystrophy
    In: Neuropediatrics Jg. 45 (2014) Nr. 5, S. 333 - 335
    Online Volltext: dx.doi.org/
  • Boczonadi, Veronika; Smith, Paul M.; Pyle, Angela; Gomez-Duran, Aurora; Schara, Ulrike; Tulinius, Mar; Chinnery, Patrick F.; Horvath, Rita
    Altered 2-thiouridylation impairs mitochondrial translation in reversible infantile respiratory chain deficiency
    In: Human Molecular Genetics Jg. 22 (2013) Nr. 22, S. 4602 - 4615
    Online Volltext: dx.doi.org/ (Open Access)
  • Böhm, Johann; Vasli, Nasim; Maurer, Marie; Cowling, Belinda; Shelton, G. Diane; Kress, Wolfram; Toussaint, Anne; Prokic, Ivana; Schara, Ulrike; Anderson, Thomas James; Weis, Joachim; Tiret, Laurent; Laporte, Jocelyn
    Altered Splicing of the BIN1 Muscle-Specific Exon in Humans and Dogs with Highly Progressive Centronuclear Myopathy
    In: PLoS Genetics Jg. 9 (2013) Nr. 6, S. 1003430
    Online Volltext: dx.doi.org/ (Open Access)
  • Mademan, Inès; Deconinck, Tine; Dinopoulos, Argirios; Voit, Thomas; Schara, Ulrike; Devriendt, Koenraad; Meijers, Björn; Lerut, Evelyne; Jonghe, Peter De; Baets, Jonathan
    De novo INF2 mutations expand the genetic spectrum of hereditary neuropathy with glomerulopathy
    In: Neurology Jg. 81 (2013) Nr. 22, S. 1953 - 1958
    Online Volltext: dx.doi.org/
  • Schara, Ulrike; Plecko, B.
    Mitteilungen aus der Gesellschaft für Neuropädiatrie
    In: Neuropediatrics Jg. 44 (2013) Nr. 4, S. 179
    Online Volltext: dx.doi.org/
  • Funk, Fabian; Ceuterick-de Groote, Chantal; Martin, Jean-Jacques; Meinhardt, Axel; Taratuto, Ana L.; de Bleecker, Jan; van Coster, Rudy; de Paepe, Boel; Schara, Ulrike; Vorgerd, Matthias; Häusler, Martin; Koppi, Stefan; Maschke, Matthias; de Jonghe, Peter; van Maldergem, Lionel; Noel, Stéphane; Zimmermann, Christoph; Wirth, Stefan; Isenmann, Stefan; Stadler, Rudolf; Michael Schröder, J.; Schulz, Jörg B.; Weis, Joachim; Claeys, Kristl G.
    Morphological spectrum and clinical features of myopathies with tubular aggregates
    In: Histology and Histopathology Jg. 28 (2013) Nr. 8, S. 1041 - 1054
    Online Volltext: dx.doi.org/
  • Della Marina, Adela; Lutz, S.; Trippe, Heike; Schara, Ulrike
    Myasthenia Gravis bei Kindern und Jugendlichen : Klinischer Verlauf und Therapie
    In: Pädiatrische Praxis Jg. 80 (2013) Nr. 3, S. 437 - 446
  • Marina, A. D.; Schara, Ulrike; Pyle, A.; Möller-Hartmann, Claudia; Holinski-Feder, E.; Abicht, A.; Czermin, B.; Lochmüller, H.; Griffin, H.; Santibanez-Koref, M.; Chinnery, P. F.; Horvath, R.
    NDUFS8-related Complex I Deficiency Extends Phenotype from "PEO Plus" to Leigh Syndrome
    In: JIMD Reports Jg. 10 (2013) S. 17 - 22
    Online Volltext: dx.doi.org/
  • Schleede, Lena; Bueter, Wolfgang; Baumgartner-Sigl, Sara; Opladen, Thomas; Weigt-Usinger, Katharina; Stephan, Susanne; Smitka, Martin; Leiz, Steffen; Kaiser, Olaf; Kraus, Verena; Van Baalen, Andreas; Skopnik, Heino; Hartmann, Hans; Rostasy, Kevin; Lücke, Thomas; Schara, Ulrike; Häusler, Martin
    Pediatric herpes simplex virus encephalitis : A retrospective multicenter experience
    In: Journal of Child Neurology Jg. 28 (2013) Nr. 3, S. 321 - 331
    Online Volltext: dx.doi.org/
  • Elsenbruch-Harnish, Sigrid; Schmid, Julia; Lutz, Soeren; Geers, Brigitte; Schara, Ulrike
    Self-reported quality of life and depressive symptoms in children, adolescents, and adults with duchenne muscular dystrophy : A cross-sectional survey study
    In: Neuropediatrics Jg. 44 (2013) Nr. 5, S. 257 - 264
    Online Volltext: dx.doi.org/
  • Chaouch, Amina; Müller, Juliane S.; Guergueltcheva, Velina; Dusl, Marina; Schara, Ulrike; Rakocević-Stojanović, Vidosava; Lindberg, Christopher; Scola, Rosana H.; Werneck, Lineu C.; Colomer, Jaume; Nascimento, Andres; Vilchez, Juan J.; Muelas, Nuria; Argov, Zohar; Abicht, Angela; Lochmüller, Hanns
    A retrospective clinical study of the treatment of slow-channel congenital myasthenic syndrome
    In: Journal of Neurology Jg. 259 (2012) Nr. 3, S. 474 - 481
    Online Volltext: dx.doi.org/
  • Klein, Andrea; Lillis, Suzanne; Munteanu, Iulia; Scoto, Mariacristina; Zhou, Haiyan; Quinlivan, Ros; Straub, Volker; Manzur, Adnan Y.; Roper, Helen; Jeannet, Pierre-Yves; Rakowicz, Wojtek; Jones, David Hilton; Jensen, Uffe Birk; Elizabethwraige; Trump, Natalie; Schara, Ulrike; Lochmuller, Hanns; Sarkozy, Anna; Kingston, Helen; Norwood, Fiona; Damian, Maxwell; Kirschner, Janbernd; Longman, Cheryl; Roberts, Mark; Auer-Grumbach, Michaela; Hughes, Imelda; Bushby, Kate; Sewry, Caroline; Robb, Stephanie; Abbs, Stephen; Jungbluth, Heinz; Muntoni, Francesco; Wraige, Elizabeth
    Clinical and genetic findings in a large cohort of patients with ryanodine receptor 1 gene-associated myopathies
    In: Human Mutation Jg. 33 (2012) Nr. 6, S. 981 - 988
    Online Volltext: dx.doi.org/
  • Schara, Ulrike; Della Marina, Adela; Abicht, Angela
    Congenital Myasthenic Syndromes : Current Diagnostic and Therapeutic Approaches
    In: Neuropediatrics Jg. 43 (2012) Nr. 4, S. 184 - 193
    Online Volltext: dx.doi.org/
  • Abicht, Angela; Dusl, Marina; Gallenmüller, Constanze; Guergueltcheva, Velina; Schara, Ulrike; Della Marina, Adele; Wibbeler, Eva; Almaras, Sybille; Mihaylova, Violeta; von der Hagen, Maja; Huebner, Angela; Chaouch, Amina; Müller, Juliane S.; Lochmüller, Hanns
    Congenital myasthenic syndromes: Achievements and limitations of phenotype-guided gene-after-gene sequencing in diagnostic practice : A study of 680 patients
    In: Human Mutation Jg. 33 (2012) Nr. 10, S. 1474 - 1484
    Online Volltext: dx.doi.org/
  • Vry, J.; Schara, Ulrike; Lutz, S.; Kirschner, J.
    Diagnose und Therapie der Muskeldystrophie Duchenne
    In: Monatsschrift Kinderheilkunde Jg. 160 (2012) Nr. 2, S. 177 - 186
    Online Volltext: dx.doi.org/
  • Klein, Andrea; Lillis, Suzanne; Munteanu, Iulia; Scoto, Mariacristina; Zhou, Haiyan; Quinlivan, Ros; Straub, Volker; Manzur, Adnan Y.; Roper, Helen; Jeannet, Pierre-Yves; Rakowicz, Wojtek; Jones, David Hilton; Jensen, Uffe Birk; Wraige, Elizabeth; Trump, Natalie; Schara, Ulrike; Lochmuller, Hanns; Sarkozy, Anna; Kingston, Helen; Norwood, Fiona; Damian, Maxwell; Kirschner, Janbernd; Longman, Cheryl; Roberts, Mark; Auer-Grumbach, Michaela; Hughes, Imelda; Bushby, Kate; Sewry, Caroline; Robb, Stephanie; Abbs, Stephen; Jungbluth, Heinz; Muntoni, Francesco
    Erratum: Clinical and genetic findings in a large cohort of patients with ryanodine receptor 1 gene associated myopathies
    In: Human Mutation Jg. 33 (2012) Nr. 8, S. 1310
    Online Volltext: dx.doi.org/
  • Petersen, Renate; Eggert, Angelika; Grümmer, Ruth; Schara, Ulrike; Sauerwein, Wolfgang
    The mentoring of women for medical career development
    In: International Journal of Mentoring and Coaching in Education Jg. 1 (2012) Nr. 2, S. 155 - 168
    Online Volltext: dx.doi.org/
  • Chaouch, A.; Muller, J. S.; Schara, Ulrike; Rakocevic-Stojanovic, V.; Lindberg, C.; Scola, R. H.; Colomer, J.; Vilchez, J. J.; Muelas, N.; Argov, Z.; Lochmuller, H.
    A retrospective study of the treatment of slow channel congenital myasthenic syndromes
    In: Journal of Neurology Jg. 258 1 (2011) S. 14 - 15
  • Schara, Ulrike; Von Kleist-Retzow, Jürgen-Christoph; Lainka, Elke; Gerner, Patrick; Pyle, Angela; Smith, Paul M.; Lochmüller, Hanns; Czermin, Birgit; Abicht, Angela; Holinski-Feder, Elke; Horvath, Rita
    Acute liver failure with subsequent cirrhosis as the primary manifestation of TRMU mutations
    In: Journal of Inherited Metabolic Disease (JIMD) Jg. 34 (2011) Nr. 1, S. 197 - 201
    Online Volltext: dx.doi.org/
  • Della Marina, A.; Abicht, A.; Schara, Ulrike
    Congenital myasthenic syndromes
    In: Nervenheilkunde Jg. 30 (2011) Nr. 10, S. 797 - 804
    Online Volltext: dx.doi.org/
  • Schara, Ulrike; Lutz, S.; Sprinz, A.
    Glucocorticoid therapy in a non-ambulant six year old boy with Duchenne muscular dystrophy
    In: Neuromuscular Disorders Jg. 21 (2011) Nr. 9-10, S. 644
    Online Volltext: dx.doi.org/
  • Elsenbruch-Harnish, Sigrid; Schmid, J.; Schara, Ulrike; Geers, B.
    Health-related quality of life in patients with Duchenne Muscular Dystrophy
    In: Neuromuscular Disorders Jg. 21 (2011) Nr. 9-10, S. 652
    Online Volltext: dx.doi.org/
  • Buyse, Gunnar M.; Goemans, Nathalie; van den Hauwe, Marleen; Thijs, Daisy; de Groot, Imelda J.M.; Schara, Ulrike; Ceulemans, Berten; Meier, Thomas; Mertens, Luc
    Idebenone as a novel, therapeutic approach for Duchenne muscular dystrophy : Results from a 12 month, double-blind, randomized placebo-controlled trial
    In: Neuromuscular Disorders Jg. 21 (2011) Nr. 6, S. 396 - 405
    Online Volltext: dx.doi.org/
  • Della Marina, A.; Abicht, A.; Schara, Ulrike
    Kongenitale myasthene Syndrome
    In: Nervenheilkunde Jg. 30 (2011) Nr. 10, S. 797 - 804
  • Gaul, Charly; Kraya, T.; Holle, Dagny; Benkel-Herrenbrück, I.; Schara, Ulrike; Ebinger, F.
    Migränevarianten und ungewöhnliche Manifestationen der Migräne im Kindesalter
    In: Schmerz Jg. 25 (2011) Nr. 2, S. 148 - 156
    Online Volltext: dx.doi.org/
  • Klein, Andrea; Jungbluth, Heinz; Clement, Emma; Lillis, Suzanne; Abbs, Stephen; Munot, Pinki; Pane, Marika; Wraige, Elizabeth; Schara, Ulrike; Straub, Volker; Mercuri, Eugenio; Muntoni, Francesco
    Muscle Magnetic Resonance Imaging in Congenital Myopathies Due to Ryanodine Receptor Type 1 Gene Mutations
    In: Archives of Neurology Jg. 68 (2011) Nr. 9, S. 1171 - 1179
    Online Volltext: dx.doi.org/
  • Kemp, John P.; Smith, Paul M.; Pyle, Angela; Neeve, Vivienne C. M.; Tuppen, Helen A. L.; Schara, Ulrike; Talim, Beril; Topaloglu, Haluk; Holinski-Feder, Elke; Abicht, Angela; Czermin, Birgit; Lochmüller, Hanns; McFarland, Robert; Chinnery, Patrick F.; Chrzanowska-Lightowlers, Zofia M.A.; Lightowlers, Robert N.; Taylor, Robert W.; Horvath, Rita
    Nuclear factors involved in mitochondrial translation cause a subgroup of combined respiratory chain deficiency
    In: Brain: A Journal of Neurology Jg. 134 (2011) Nr. 1, S. 183 - 195
    Online Volltext: dx.doi.org/
  • Dückers, Gregor; Neilson, Derek E.; Knorr, Martin; Schweiger, Bernd; Möller-Hartmann, Claudia; Schara, Ulrike; Felderhoff-Müser, Ursula; Dohna-Schwake, Christian
    Autosomal-dominante akute nekrotisierende Enzephalopathie
    In: Monatsschrift Kinderheilkunde Jg. 158 (2010) Nr. 1, S. 54 - 56
    Online Volltext: dx.doi.org/
  • Wang, Ching H.; Bonnemann, Carsten G.; Rutkowski, Anne; Sejersen, Thomas; Bellini, Jonathan; Battista, Vanessa; Florence, Julaine M.; Schara, Ulrike; Schuler, Pamela M.; Wahbi, Karim; Aloysius, Annie; Bash, Robert O.; Béroud, Christophe; Bertini, Enrico; Bushby, Kate; Cohn, Ronald D.; Connolly, Anne M.; Deconinck, Nicolas; Desguerre, Isabelle; Eagle, Michelle; Estournet-Mathiaud, Brigitte; Ferreiro, Ana; Fujak, Albert; Goemans, Nathalie; Iannaccone, Susan T.; Jouinot, Patricia; Main, Marion; Melacini, Paola; Mueller-Felber, Wolfgang; Muntoni, Francesco; Nelson, Leslie L.; Rahbek, Jes; Quijano-Roy, Susana; Sewry, Caroline; Storhaug, Kari; Simonds, Anita; Tseng, Brian; Vajsar, Jiri; Vianello, Andrea; Zeller, Reinhard
    Consensus statement on standard of care for congenital muscular dystrophies
    In: Journal of Child Neurology Jg. 25 (2010) Nr. 12, S. 1559 - 1581
    Online Volltext: dx.doi.org/
  • Schara, Ulrike; Christen, Hans-Jürgen; Durmus, Hacer; Hietala, Marja; Krabetz, Kerstin; Rodolico, Carmelo; Schreiber, Gudrun; Topaloglu, Haluk; Talim, Beril; Voss, Wolfgang; Pihko, Helena; Abicht, Angela; Müller, Juliane S.; Lochmüller, Hanns
    Long-term follow-up in patients with congenital myasthenic syndrome due to CHAT mutations
    In: European Journal of Paediatric Neurology Jg. 14 (2010) Nr. 4, S. 326 - 333
    Online Volltext: dx.doi.org/
  • Wehling, Cyrill; Eggert, Angelika; Felderhoff-Müser, Ursula; Schara, Ulrike; Dohna-Schwake, Christian;
    Meningitis durch Streptococcus equi
    36. Jahrestagung der Gesellschaft für Neonatologie und Pädiatrische Intensivmedizin und 18. Jahrestagung der Gesellschaft für Pädiatrische Infektiologie gemeinsam mit Société Luxembourgoise de Pédiatrie Saarbrücken, 17.–19. Juni 2010,
    In: Klinische Pädiatrie Jg. 222 (2010) Nr. Suppl. 1, S. S51
    Online Volltext: dx.doi.org/
  • Kirschner, Janbernd; Schessl, Joachim; Schara, Ulrike; Reitter, Bernd; Stettner, Georg M; Hobbiebrunken, Elke; Wilichowski, Ekkehard; Bernert, Günther; Weiss, Simone; Stehling, Florian; Wiegand, Gert; Müller-Felber, Wolfgang; Thiele, Simone; Grieben, Ulrike; von der Hagen, Maja; Lütschg, Jürg; Schmoor, Claudia; Ihorst, Gabriele; Korinthenberg, Rudolf
    Treatment of Duchenne muscular dystrophy with ciclosporin A : a randomised, double-blind, placebo-controlled multicentre trial
    In: The Lancet Neurology Jg. 9 (2010) Nr. 11, S. 1053 - 1059
    Online Volltext: dx.doi.org/
  • Schara, Ulrike; Barisic, N.; Deschauer, M.; Lindberg, C.; Straub, V.; Strigl-Pill, N.; Wendt, M.; Abicht, A.; Müller, J. S.; Lochmüller, H.
    Ephedrine therapy in eight patients with congenital myasthenic syndrome due to DOK7 mutations
    In: Neuromuscular Disorders Jg. 19 (2009) Nr. 12, S. 828 - 832
    Online Volltext: dx.doi.org/
  • Buyse, G. M.; Goemans, N.; van den Hauwe, M.; de Groot, IJM; Schara, Ulrike; Ceulemans, B.; Meier, T.
    Glucocorticoids influence therapeutic efficacy of idebenone (Catena (R)) on peak expiratory flow in patients with Duchenne muscular dystrophy (DMD)
    In: Neuromuscular Disorders Jg. 19 (2009) Nr. 8-9, S. 610 - 610
    Online Volltext: dx.doi.org/
  • Lutz, Sören; Stiegler, B.; Kress, W.; von der Hagen, M.; Schara, Ulrike
    Kongenitale Strukturmyopathien : Eine Übersicht
    In: Medizinische Genetik Jg. 21 (2009) Nr. 3, S. 316 - 321
    Online Volltext: dx.doi.org/
  • Mihaylova, V.; Müller, J. S.; Vilchez, J. J.; Salih, M. A.; Kabiraj, M. M.; D'Amico, A.; Bertini, E.; Wölfle, J.; Schreiner, F.; Kurlemann, G.; Rasic, V. M.; Siskova, D.; Colomer, J.; Herczegfalvi, A.; Fabriciova, K.; Weschke, B.; Scola, R.; Hoellen, F.; Schara, Ulrike; Abicht, A.; Lochmüller, H.
    Clinical and molecular genetic findings in COLQ-mutant congenital myasthenic syndromes
    In: Brain: A Journal of Neurology Jg. 131 (2008) Nr. 3, S. 747 - 759
    Online Volltext: dx.doi.org/
  • Peters, S. A.; Köhler, C.; Schara, Ulrike; Hohendahl, J.; Vorgerd, M.; Nicolas, V.; Heyer, C. M.
    Myopathien im Kindesalter - Evaluation mittels Kernspintomografie der Muskulatur
    In: Klinische Pädiatrie Jg. 220 (2008) Nr. 1, S. 37 - 46
    Online Volltext: dx.doi.org/
  • Schessl, J.; Walter, M. C.; Schreiber, G.; Schara, Ulrike; Müller, C. R.; Lochmüller, H.; Bönnemann, C. G.; Korinthenberg, R.; Kirschner, J.
    Phenotypic variability in siblings with calpainopathy (LGMD2A)
    In: Acta Myologica Jg. 27 (2008) Nr. 2, S. 54 - 58
  • Schara, Ulrike; Kress, W.; Bönnemann, C. G.; Breitbach-Faller, N.; Korenke, C. G.; Schreiber, G.; Stoetter, M.; Ferreiro, A.; von der Hagen, M.
    The phenotype and long-term follow-up in 11 patients with juvenile selenoprotein N1-related myopathy
    In: European Journal of Paediatric Neurology Jg. 12 (2008) Nr. 3, S. 224 - 230
    Online Volltext: dx.doi.org/
  • Schara, Ulrike; Lochmüller, Hanns
    Therapeutic strategies in congenital myasthenic syndromes
    In: Neurotherapeutics Jg. 5 (2008) Nr. 4, S. 542 - 547
    Online Volltext: dx.doi.org/ (Open Access)
  • Uyanik, G.; Morris-Rosendahl, D. J.; Stiegler, J.; Klapecki, J.; Gross, C.; Berman, Y.; Martin, P.; Dey, L.; Spranger, S.; Korenke, G. C.; Schreyer, I.; Hertzberg, C.; Neumann, T. E.; Burkart, P.; Spaich, C.; Meng, M.; Holthausen, H.; Adès, L.; Seidel, J.; Mangold, E.; Buyse, G.; Meinecke, P.; Schara, Ulrike; Zeschnigk, C.; Muller, D.; Helland, G.; Schulze, B.; Wright, M. L.; Kortge-Jung, S.; Hehr, A.; Bogdahn, U.; Schuierer, G.; Kohlhase, J.; Aigner, L.; Wolff, G.; Hehr, U.; Winkler, J.
    Location and type of mutation in the LIS1 gene do not predict phenotypic severity
    In: Neurology Jg. 69 (2007) Nr. 5, S. 442 - 447
    Online Volltext: dx.doi.org/
  • Müller, J. S.; Herczegfalvi, A.; Vilchez, J. J.; Colomer, J.; Bachinski, L. L.; Mihaylova, V.; Santos, M.; Schara, Ulrike; Deschauer, M.; Shevell, M.; Poulin, C.; Dias, A.; Soudo, A.; Hietala, M.; Aärimaa, T.; Krahe, R.; Karcagi, V.; Huebner, A.; Beeson, D.; Abicht, A.; Lochmüller, H.
    Phenotypical spectrum of DOK7 mutations in congenital myasthenic syndromes
    In: Brain: A Journal of Neurology Jg. 130 (2007) Nr. 6, S. 1497 - 1506
    Online Volltext: dx.doi.org/ (Open Access)

    • Vorworte / Nachworte

  • Schara-Schmidt, Ulrike; Linker, Ralf
    Wege zur Therapie neuromuskulärer Erkrankungen in der Neuropädiatrie und Neurologie
    In: Der Nervenarzt Jg. 94 (2023) Nr. 6, S. 471 - 472
    Online Volltext: dx.doi.org/
  • Schara-Schmidt, Ulrike
    Neuropädiatrie trifft Neurologie : Gemeinsamkeiten – Unterschiede?
    In: Der Nervenarzt Jg. 93 (2022) Nr. 2, S. 111 - 113
    Online Volltext: dx.doi.org/ (Open Access)
  • Finkel, Richard S.; Schara-Schmidt, Ulrike; Hagenacker, Tim
    Editorial: Spinal Muscular Atrophy : Evolutions and Revolutions of Modern Therapy
    In: Frontiers in Neurology Jg. 11 (2020) S. 783
    Online Volltext: dx.doi.org/ (Open Access)
  • Schara, Ulrike
    Appropriate use of next generation sequencing facilities for identifying new genetic causes of fetal akinesia deformation sequence (FADS)
    In: European Journal of Paediatric Neurology Jg. 21 (2017) Nr. 5, S. 697 - 698
    Online Volltext: dx.doi.org/

    • Abstracts

  • Mercuri, E.; Vilchez, J.; Boespflug-Tanguy, O.; Zaidman, C.; Mah, J.; Goemans, N.; Müller-Felber, W.; Niks, E.; Munell, F.; Schara, Ulrike; Bertini, E.; Comi, G.; Mathews, K.; Servais, L.; Vandenborne, K.; Cazzaniga, S.; Coceani, N.; Bettica, P.; McDonald, C.
    Givinostat in DMD : Results of the Epidys Study
    In: Neuromuscular Disorders Jg. 32 (2022) Nr. Suppl. 1, S. 95 - S96
    Online Volltext: dx.doi.org/ (Open Access)
  • Pechmann, A.; Behrens, M.; Bernert, G.; Hagenacker, Tim; Müller-Felber, W.; Schara-Schmidt, Ulrike; Schwersenz, I.; Walter, M.; Lochmüller, H.; Kirschner, J.
    Long-term effect of nusinersen treatment on motor, respiratory and bulbar function in children with SMA type 1 : A 3-year SMArtCARE registry study
    In: Neuromuscular Disorders Jg. 32 (2022) S. 63 - S64
    Online Volltext: dx.doi.org/ (Open Access)
  • Meyer, N.; Kohlschmidt, N.; Lochmüller, H.; Schara, Ulrike; Hannappel, L.; Grüneboom, A.; Schänzer, A.; Hentschel, A.; Gangfuss, A.; Roos, A.
    Molecular pathology of human PPP1R21 deficiency
    In: Neuromuscular Disorders Jg. 32 (2022) Nr. Suppl. 1, S. 76
    Online Volltext: dx.doi.org/ (Open Access)
  • Jennings, Matthew; Kagiava, Alexia; Vendredy, Leen; Schara, Ulrike; Horvath, Rita; et al.;
    NCAM1 and GDF15 are biomarkers of Charcot-Marie-Tooth disease in patients and mice
    Peripheral Nerve Society (PNS) 2022 Annual Meeting, 14.-17.05.2022, Florida,
    In: Journal of the Peripheral Nervous System Jg. 27 (2022) Nr. S3: Abstracts of the 2022 Peripheral Nerve Society Annual Meeting, S. S60 - S60
    Online Volltext: dx.doi.org/ (Open Access)
  • Mohassel, Payam; Donkervoort, Sandra; Lone, Museer A.; Nalls, Matthew; Gable, Kenneth; Gupta, Sita D.; Foley, A. Reghan; Hu, Ying; Saute, Jonas Alex Morales; Moreira, Ana Lucila; Kok, Fernando; Introna, Alessandro; Logroscino, Giancarlo; Grunseich, Christopher; Nickolls, Alec R.; Pourshafie, Naemeh; Neuhaus, Sarah B.; Saade, Dimah; Gangfuß, Andrea; Kölbel, Heike; Piccus, Zoe; Le Pichon, Claire E.; Fiorillo, Chiara; Ly, Cindy V.; Töpf, Ana; Brady, Lauren; Specht, Sabine; Zidell, Aliza; Pedro, Helio; Mittelmann, Eric; Thomas, Florian P.; Chao, Katherine R.; Konersman, Chamindra G.; Cho, Megan T.; Brandt, Tracy; Straub, Volker; Connolly, Anne M.; Schara, Ulrike; Roos, Andreas; Tarnopolsky, Mark; Höke, Ahmet; Brown, Robert H.; Lee, Chia-Hsueh; Hornemann, Thorsten; Dunn, Teresa M.; Bönnemann, Carsten G.;
    Childhood amyotrophic lateral sclerosis caused by excess sphingolipid synthesis
    146th Annual Meeting American Neurological Association Presented virtually October 17–19, 2021 Opening Symposium: October 16, 2021,
    In: Annals of Neurology Jg. 90 (2021) Nr. S27, S. S220 - S221
    Online Volltext: dx.doi.org/ (Open Access)
  • Preusse, C.; Marteau, T.; Fischer, N.; Hentschel, A.; Lang, S.; Dittmayer, C.; Schneider, U.; Schara-Schmidt, Ulrike; Allenbach, Y.; Benveniste, O.; Goebel, H.; Stenzel, W.; Roos, A.;
    26th International Congress of the World Muscle Society; 20th– 24th September 2021 (Hrsg.)
    EP.12 ER-stress and UPR-activation in immune-mediated necrotizing myopathy
    In: Neuromuscular Disorders Jg. 31 (2021) Nr. Supplement 1, S. S53
    Online Volltext: dx.doi.org/ (Open Access)
  • Gangfuß, Andrea; Czech, A.; Hentschel, A.; Münchberg, U.; Horvath, R.; Töpf, A.; O'Heir, E.; Lochmüller, H.; Stehling, Florian; Kiewert, C.; Sickmann, A.; Küchler, Alma; Frank, K.; Kölbel, H.; Christiansen, J.; Schara-Schmidt, Ulrike; Roos, Andreas;
    EP.305 Homozygous WASHC4 variant in two sisters causes a syndromic phenotype with skeletal muscle involvement
    26th International Congress of the World Muscle Society; 20th– 24th September 2021,
    In: Neuromuscular Disorders Jg. 31 (2021) S. S143
    Online Volltext: dx.doi.org/
  • Preuße, C.; Ruck, T.; Cengiz, D.; von Moers, A.; Hentschel, A.; Lochmüller, H.; Schara-Schmidt, Ulrike; Sickmann, A.; Gangfuß, Andrea; Förster, A.; Meuth, S.; Goebel, H.-H.; Stenzel, W.; Roos, Andreas;
    Expression of Periostin in DMD patients and mdx mice
    26th International Congress of the World Muscle Society; 20th– 24th September 2021,
    In: Neuromuscular Disorders Jg. 31 (2021) Nr. Supplement 1, S. S96
    Online Volltext: dx.doi.org/
  • Preusse, C.; Stenzel, W.; Ruck, T.; Müntefering, T.; Nuygen, C.; Merker, M.; Lochmüller, H.; Hentschel, A.; Schara, Ulrike; Roos, A.;
    Combined protein and transcript studies identify periostin as a DMD tissue and blood marker protein
    25th (Virtuell) Congress of the World Muscle Society ; WMS 2020 ; 28 September - 2 October 2020, Halifax, Canada,
    In: Neuromuscular Disorders Jg. 30 (2020) Nr. Supplement 1, S. 83
    Online Volltext: dx.doi.org/
  • Kölbel, H.; Henschel, A.; Della Marina, A.; Abicht, A.; Sickmann, A.; Weis, J.; Schara, Ulrike; Roos, A.;
    Description of muscular involvement in a NEFL-caused neurological disease
    25th (Virtuell) Congress of the World Muscle Society ; WMS 2020 ; 28 September - 2 October 2020, Halifax, Canada,
    In: Neuromuscular Disorders Jg. 30 (2020) Nr. Supplement 1, S. S79
    Online Volltext: dx.doi.org/
  • Hentschel, A.; Pogoryelova, O.; Sickmann, A.; Schara, Ulrike; Lochmüller, H.; Roos, A.;
    Fibroblasts as a suitable biomaterial to study the etiology of neuromuscular diseases
    25th (Virtuell) Congress of the World Muscle Society ; WMS 2020 ; 28 September - 2 October 2020, Halifax, Canada,
    In: Neuromuscular Disorders Jg. 30 (2020) Nr. Supplement 1, S. S50 - S51
    Online Volltext: dx.doi.org/
  • Pechmann, A.; Bernert, G.; Hagenacker, Tim; Müller-Felber, W.; Schara, Ulrike; Schwersenz, I.; Walter, M.; Lochmüller, H.; Kirschner, J.;
    SMArtCARE : Real-world-data collection of patients with spinal muscular atrophy
    25th (Virtuell) Congress of the World Muscle Society ; WMS 2020 ; 28 September - 2 October 2020, Halifax, Canada,
    In: Neuromuscular Disorders Jg. 30 (2020) Nr. Supplement 1, S. S97
    Online Volltext: dx.doi.org/
  • O’Rahelly, Mark; Hahn, Andreas; Nguyen, Cam-Tu; Kim, Dae-Seong; Byun, Shin Y; Schara, Ulrike; Henrich, Maria; Leslie, Jacob; Vincent, Angela; Allen, Nicholas M; Jungbluth, Heinz
    Fetal acetylcholine receptor inactivation due to maternal myasthenia gravis : an underrecognised, devastating but potentially preventable and treatable disorder
    In: Archives of Disease in Childhood Jg. 104 (2019) Nr. Suppl. 3, S. A124
    Online Volltext: dx.doi.org/ (Open Access)
  • Kölbel, H.; Roos, A.; Nolte, K.; Johnson, Kevin; Töpf, A.; Kollipara, L.; Kress, W.; van der Ven, P.; Straub, V.; Weis, J.; Fürst, D.; Schara, Ulrike
    First clinical and neuropathological description of a myofibrillar myopathy with congenital onset based on a homozygous recessive FLNC mutation
    In: Neuromuscular Disorders Jg. 29 (2019) Nr. Supplement 1, S. S64 - S65
    Online Volltext: dx.doi.org/
  • Villar-Quiles, R.; von der Hagen, M.; Quijano-Roy, S.; Gonzalez, V.; Donkervoort, S.; de Visser, M.; Fidzianska, A.; Orlikowski, D.; Goemans, N.; Mayer, M.; Merlini, L.; Romero, N.; Fardeau, M.; Topaloğlu, H.; Métay, C.; Richard, P.; Estournet, B.; Bönnemann, C.; Schara, Ulrike; Ferreiro, A.
    P.113 Phenotype, genetics and natural history in 131 SEPN1-related myopathy patients: towards clinical trial readiness
    In: Neuromuscular Disorders Jg. 29 (2019) Nr. Supplement 1, S. S81 - S82
    Online Volltext: dx.doi.org/
  • Annoussamy, M.; Gasnier, E.; Baets, J.; Schara, Ulrike; Grangé, A.; Lilien, C.; Chë, V.; Duchêne, D.; Gidaro, T.; Seferian, A.; Hernandez, A.; de Lattre, C.; D'Amico, A.; Behin, A.; Grelet, M.; Hogrel, J.; Landy, H.; Buj-Bello, A.; Freitag, C.; Servais, L.
    P.200 Feasibility and baseline values of continuous movement measurement in patients with centronuclear myopathy by using ActiMyo®
    In: Neuromuscular Disorders Jg. 29 (2019) Nr. Supplement 1, S. S107
    Online Volltext: dx.doi.org/
  • Mueller-Felber, W.; Kölbel, H.; Schwartz, O.; Blaschek, A.; Olgemüller, B.; Harms, E.; Röschinger, W.; Durner, J.; Gläser, D.; Burggraf, S.; Nennstiel, U.; Wirth, B.; Schara, Ulrike; Becker, M.; Vill, K.
    P.211 Pilot study of genetic newborn screening for spinal muscular atrophy in Germany : clinical results after more than a year
    In: Neuromuscular Disorders Jg. 29 (2019) Nr. Supplement 1, S. S128
    Online Volltext: dx.doi.org/
  • Seferian, A.; Annoussamy, M.; Chabanon, A.; Cances, C.; Goemans, N.; Daron, A.; Schara, Ulrike; Pereon, Y.; Cuisset, J.; El-Khairi, M.; Seabrook, T.; Vuillerot, C.; Servais, L.
    P.217 Patterns of disease progression in patients with spinal muscular atrophy type 3 using the motor function measure
    In: Neuromuscular Disorders Jg. 29 (2019) Nr. Supplement 1, S. S130
    Online Volltext: dx.doi.org/
  • Servais, L.; Mayer, O.; McDonald, C.; Straathof, C.; Schara, Ulrike; Voit, Thomas; Mercuri, E.; Buyse, G.
    P.264 SYROS study – long-term reduction in rate of respiratory function decline in patients with Duchenne muscular dystrophy treated with idebenone
    In: Neuromuscular Disorders Jg. 29 (2019) Nr. Supplement 1, S. S144
    Online Volltext: dx.doi.org/
  • Kölbel, H.; Gangfuß, A.; Kollipara, L.; Horvarth, R.; Roos, A.; Schara, Ulrike
    P.275 Determination of protein markers in skeletal muscle of SMA type 3 patients
    In: Neuromuscular Disorders Jg. 29 (2019) Nr. Supplement 1, S. S147
    Online Volltext: dx.doi.org/
  • O'Rahelly, M.; Fernandez-Garcia, M.; Hahn, A.; Nguyen, C.; Kim, D.; Byun, S.; Koelbel, H.; Schara, Ulrike; Henrich, M.; Leslie, J.; Eymard, B.; Chouchane, M.; Roefke, K.; Thieme, A.; van den Bergh, P.; Paquay, S.; Schneider-Gold, C.; Vincent, A.; Allen, N.; Jungbluth, H.
    P.379 Fetal Acetylcholine Receptor Inactivation Syndrome (FARIS) : A potentially treatable autoimmune disorder mimicking a wide range of genetic neuromuscular conditions
    In: Neuromuscular Disorders Jg. 29 (2019) Nr. Supplement 1, S. S192
    Online Volltext: dx.doi.org/
  • Pechmann, A.; Bernert, G.; Schara, Ulrike; Schwersenz, I.; Walter, M.; Lochmüller, H.; Kirschner, J.
    P.392 SMArtCARE - Real-world-data collection of patients with spinal muscular atrophy
    In: Neuromuscular Disorders Jg. 29 (2019) Nr. Supplement 1, S. S196
    Online Volltext: dx.doi.org/
  • Turk, S.; Vuillerot, C.; Chabanon, A.; Servais, L.; Seferian, A.; Gargaun, E.; Laugel, V.; Cances, C.; Hermosilla, R.; Daron, A.; Baudin, P.; Annoussamy, M.; Cuisset, J.; Schara, Ulrike; Carlier, P.; Goemans, N.; Gidaro, T.; Hogrel, J.; Fournier, E.; Péréon, Y.
    SMA Clinical Data, Outcome Measures and Registries : P.88Associations between NMR, electrophysiological, strength and function variables in SMA type 2 and 3
    In: Neuromuscular Disorders Jg. 28 (2018) Nr. Suppl. 2, S. S56
    Online Volltext: dx.doi.org/
  • Preusse, C.; Schara, Ulrike; Goebel, H. H.; Zerbe, N.; Hufnagl, P.; Heppner, F. L.; von Moers, A.; Stenzel, W.
    Time-dependent development of fibrosis and inflammation in Duchenne Muscular Dystrophy
    In: Neuromuscular Disorders Jg. 24 (2014) Nr. 9-10, S. 856 - 856
    Online Volltext: dx.doi.org/
  • Chaouch, A.; Müller, J. S.; Guergueltcheva, V.; Dusl, M.; Schara, Ulrike; Rakocević-Stojanović, V.; Lindberg, C.; Scola, R. H.; Werneck, L. C.; Colomer, J.; Nascimento, A.; Vilchez, J. J.; Muelas, N.; Argov, Z.; Abicht, A.; Lochmüller, Hanns
    A retrospective clinical study of the treatment of slow-channel congenital myasthenic syndrome
    In: Neuromuscular Disorders / UK Neuromuscular Translational Research Conference ; 22nd – 23rd March 2012, Newcastle upon Tyne, UK Jg. 22 (2012) Nr. Supplement 1, S. S16 - S17
    Online Volltext: dx.doi.org/
  • Lutz, Sabine; Trippe, H.; Shamdeen, G.M.; Schara, Ulrike; Della Marina, A.
    Myasthenia gravis in young children and adolescents : Clinical symptoms and treatment options
    In: Neuromuscular Disorders / 17th International Congress of The World Muscle Society Jg. 22 (2012) S. 856
    Online Volltext: dx.doi.org/
  • Stehling, Florian; Schara, Ulrike; Munteanu, M.; Heller, R.; Vincent, A.; Mellies, Uwe; Schneider-Gold, C.; Trippe, H.
    Myasthenic symptoms : From initial presentation to diagnosis
    In: Neuromuscular Disorders / 17th International Congress of The World Muscle Society Jg. 22 (2012) Nr. 9-10, S. 856
    Online Volltext: dx.doi.org/
  • Bonnemann, C.G.; Foley, A.R.; Vandyke, R.; Fenchel, M.; Rutkowski, A.; Volker, S.; McCallum, M.; Muntoni, F.; Schara, Ulrike; Sawnani, H.; Amin, R.; Collins, J.; Stehling, Florian; Deconinck, N.
    Percent predicted forced vital capacity is a viable outcome measure in Laminin alpha 2 – Deficient congenital muscular dystrophy
    In: Neuromuscular Disorders / 17th International Congress of The World Muscle Society Jg. 22 (2012) Nr. 9-10, S. 893 - 894
    Online Volltext: dx.doi.org/
  • Hochsmann, Britta; Dohna-Schwake, Christian; Rojewski, M.; Schwarz, Klaus; Pannicke, Ulrich; Schara, Ulrike; Wieland, Regina; Schrezenmeier, H.
    Isolated CD59 deficiency mimicking paroxysmal nocturnal hemoglobinuria (PNH) - flow cytometric detection and genetic characterization
    In: Onkologie / Deutsche, Österreichische und Schweizerische Gesellschaften für Hämatologie und Onkologie Jahrestagung, Berlin, Oktober 2010 Jg. 33 (2010) Nr. Suppl. 6, S. 112 - 113
  • Okorn, C. O.; Gewert, A. G.; Schwiertz, R. S.; Della Marina, ADM; Schara, Ulrike; Dohna-Schwake, CDS; Vester, Udo; Hoyer, Peter Friedrich
    Exercise-induced acute renal failure due to carnitine palmitoyltransferase II deficiency
    In: Pediatric Nephrology Jg. 24 (2009) Nr. 4, S. 918 - 919
  • Buyse, G.; Goemans, N.; Van den Hauwe, M.; Thijs, D.; De Groot, I. J.; Schara, Ulrike; Ceulemans, B.; Meier, T.; Mertens, L.
    Idebenone Improves Peak Systolic Strain in Children With Duchenne Muscular Dystrophy With Preserved Ejection Fraction : Results of a 12 Month Double-blind, Randomized, Controlled Trial
    In: Circulation Jg. 120 (2009) Nr. 18, Suppl. 2, S. 602
  • Mihaylova, V.; Muller, J.; Padilla, J. V.; Salih, M.; Kabiraj, M.; D'amico, A.; Bertini, E.; Wolfe, J.; Schreiner, F.; Kurlemann, G.; Rasic, V.; Siskova, D.; Colomer, J.; Herczegfalvi, A.; Fabriciova, K.; Weschke, B.; Scola, R.; Hoellen, F.; Schara, Ulrike; Abicht, A.; Lochmuller, H.
    Clinical and molecular genetic findings in 22 COLQ-mutant CMS patients
    In: Neurology Jg. 70 (2008) Nr. Suppl. 11, S. A426 - A427
  • Buyse, Gunnar M.; Mertens, Luc; van den Hauwe, Marleen; Thijs, Daisy; De Groot, Imelda; Schara, Ulrike; Ceulemans, Berten; Meier, Thomas; Goemans, Nathalie
    Double-blind randomized controlled trial of SNT.MC17/idebenone in Duchenne muscular dystrophy
    In: Neurology Jg. 70 (2008) Nr. 11, Suppl., S. A79
  • Mihaylova, V.; Muller, J.; Vilchez, J.; Salih, M.; Kabiraj, M.; D'Amico, A.; Bertini, E.; Woelfle, J.; Schreiner, F.; Kurlemann, G.; Rasic, V.; Siskova, D.; Colomer, J.; Herczegfalvi, A.; Fabriciova, K.; Weschke, B.; Scola, R.; Hoellen, F.; Schara, Ulrike; Abicht, A.; Lochmuller, H.
    Phenotypical spectrum of congenital myasthenic syndrome caused by mutations in COLQ gene
    In: Journal of Neurology Jg. 255 (2008) Nr. Suppl. 2, S. P743
    Online Volltext: dx.doi.org/
  • Buyse, G. M.; Goemans, N.; Van Der Mieren, G.; Erb, M.; D'hooge, J.; Herijgers, P.; Verbeken, E.; Jara, A.; Van Den Bergh, A.; Courdier-Fruh, I.; Barzagh, P.; van den Hauwe, M.; Thijs, D.; Groot de, IJM; Schara, Ulrike; Ceulemans, B.; Mertens, L.
    SNT-MC17/idebenone in Duchenne muscular dystrophy : long-term blinded controlled preclinical study in the mdx mouse followed by a 12 month double-blind randomized controlled trial in humans
    In: Neuromuscular Disorders Jg. 18 (2008) Nr. 9-10, S. 832 - 832
    Online Volltext: dx.doi.org/
  • Kirschner, J.; Schessl, J.; Walter, M.; Schreiber, G.; Muelller-Reible, C.; Schara, Ulrike; Boennemann, C.; Korinthenberg, R.
    Clinical variability in siblings with calpainopathy (LGMD2A)
    In: Neuromuscular Disorders Jg. 17 (2007) Nr. 9-10, S. 791 - 791
    Online Volltext: dx.doi.org/
  • Schara, Ulrike; Christen, H.; Hietala, M.; Hoovey, Z.; Krabetz, K.; Schreiber, G.; Topaloglu, H.; Voss, W.; Abicht, A.; Muller, J.; Lochmuller, H.
    Long-term follow-up in patients with congenital myasthenic syndrome due to CHAT mutations
    In: Neuromuscular Disorders Jg. 17 (2007) Nr. 9-10, S. 818
  • von der Hagen, M.; Kress, W.; Boennemann, C.; Breitbach-Faller, N.; Korenke, C.; Schreiber, G.; Stoetter, M.; Wilichowski, E.; Ferreiro, A.; Schara, Ulrike
    Phenotype and long-term follow-up in juvenile patients with selenoprotein N-related myopathy (SEPN1-RM)
    In: Neuromuscular Disorders Jg. 17 (2007) Nr. 9-10, S. 846 - 846
    Online Volltext: dx.doi.org/
  • Mueller, J. S.; Herczegfalvi, A.; Vilchez, J. J.; Colomer, J.; Santos, M.; Schara, Ulrike; Deschauer, M.; Shevell, M.; Poulin, C.; Dias, A.; Soudo, A.; Hietala, M.; Aeaerimaa, T.; Bachinski, L. L.; Krahe, R.; Karcagi, V.; Beeson, D.; Abicht, A.; Lochmueller, H.
    Phenotypical spectrum of DOK-7 mutations in congenital myasthenic syndromes (CMS)
    In: Neurology Jg. 68 (2007) Nr. 12, Suppl. 1, S. A299
  • Schroder, J. M.; Vitt, C.; Senderek, J.; Schara, Ulrike; Mortier, W.; Klein, W.; Weis, J.
    The spectrum of fine structural changes due to two novel and other well known MPZ mutations
    In: Journal of the Peripheral Nervous System Jg. 12 (2007) Nr. Suppl. 1, S. 78
  • Schara, Ulrike; Deschauer, M.; Wendt, M.; Strigi-Pill, N.; Muller, J.; Abicht, A.; Lochmuller, H.
    Therapeutic effects of ephedrine in congenital myasthenic syndrome due to DOK7 mutations
    In: Neuromuscular Disorders Jg. 17 (2007) Nr. 9-10, S. 818 - 819

    • Beiträge in Sammelwerken und Tagungsbänden

  • Roos, Andreas; Hathazi, Denisa; Schara, Ulrike
    Immunofluorescence-Based Analysis of Caveolin-3 in the Diagnostic Management of Neuromuscular Diseases
    In: Caveolae: Methods and Protocols / Blouin, Cedric M. (Hrsg.) 2020, S. 197 - 216
    Online Volltext: dx.doi.org/
  • Schara, Ulrike; Della Marina, Adela; Horváth, Rita
    Reversible Infantile Respiratory Chain Deficiency
    In: Mitochondrial Case Studies: Underlying Mechanisms and Diagnosis / Cohen, Bruce H.; Saneto, Russell P.; Parikh, Sumit (Hrsg.) 2016, S. 127 - 133
    Online Volltext: dx.doi.org/

    • Bücher/Sammelwerke/Tagungsbände

  • Schara, Ulrike
    Phänotypen, Langzeitverläufe und Therapiestrategien bei seltenen neuromuskulären Erkrankungen
    Duisburg Essen (2008) 1 CD-ROM

    • Vorträge

  • Schara, Ulrike;
    Muskel- und Nervenerkrankungen im Kindes- und Jugendalter : Was kann klinische Forschung leisten?
    Die kleine Form, 07. November 2012, Essen,
    (2012) (Die kleine Form 2012/2013)
    Online Volltext