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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

  • Mendell, Jerry R.; Muntoni, Francesco; McDonald, Craig M.; Mercuri, Eugenio M.; Ciafaloni, Emma; Komaki, Hirofumi; Leon-Astudillo, Carmen; Nascimento, Andrés; Proud, Crystal; Schara-Schmidt, Ulrike; Veerapandiyan, Aravindhan; Zaidman, Craig M.; Guridi, Maitea; Murphy, Alexander P.; Reid, Carol; Wandel, Christoph; Asher, Damon R.; Darton, Eddie; Mason, Stefanie; Potter, Rachael A.; Singh, Teji; Zhang, Wenfei; Fontoura, Paulo; Elkins, Jacob S.; Rodino-Klapac, Louise R.
    AAV gene therapy for Duchenne muscular dystrophy : The EMBARK phase 3 randomized trial
    In: Nature Medicine , Jg. 31 2025 , Nr. 1 , S. 332 - 341
    DOI (Open Access)
  • Gangfuß, Andrea; Goj, Guido; Polz, Silke; Della Marina, Adela; Hentschel, Andreas; Ahlbory, Katja; Deba, Timo; Kotzaeridou, Urania; Schuler, Elisabeth; Pechmann, Astrid; Diebold, Uta; Kurlemann, Gerhard; Heinzkyll, Lucas; Schmitt, Dirk; Rostasy, Kevin; Ruck, Tobias; Böhm, Johann; Roos, Andreas; Schara-Schmidt, Ulrike
    Giant axonal neuropathy (GAN) : cross-sectional data on phenotypes, genotypes, and proteomic signature from a German cohort
    In: Journal of Neurology , Jg. 272 2025 , Nr. 1 , 63
    DOI (Open Access)
  • Colombo, S; Cowling, B S; Eyler, L; Nijkamp, D; Freitag, C; Thielemans, L; Bouman, K; Baets, J; Vissing, J; Quinlivan, R; Guglieri, M; Montagnese, F; Schara-Schmidt, Ulrike; Dhawan, A; Lawlor, M W; Voermans, N C
    Liver function in X-linked myotubular myopathy and autosomal dominant centronuclear myopathy : Data of the unite-CNM study
    In: Journal of Neuromuscular Diseases 2025 , in press
    DOI
  • Oeztuerk, Menekse; Herebian, Diran; Dipali, Kale; Hentschel, Andreas; Rademacher, Nina; Kraft, Florian; Horvath, Rita; Distelmaier, Felix; Meuth, Sven G.; Ruck, Tobias; Schara-Schmidt, Ulrike; Roos, Andreas
    Multi-omics-based phenotyping of AFG3L2-mutant lymphoblasts determines key factors of a pathophysiological interplay between mitochondrial vulnerability and neurodegeneration in spastic ataxia type 5
    In: Frontiers in Molecular Neuroscience , Jg. 18 2025 , 1548255
    DOI (Open Access)
  • Pauper, Marc; Hentschel, Andreas; Tiburcy, Malte; Beltran, Sergi; Ruck, Tobias; Schara-Schmidt, Ulrike; Roos, Andreas
    Proteomic Profiling Towards a Better Understanding of Genetic Based Muscular Diseases : The Current Picture and a Look to the Future
    In: Biomolecules , Jg. 15 2025 , Nr. 1 , 130
    DOI (Open Access)
  • 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; SMArtCARE study group
    5qSMA: standardised retrospective natural history assessment in 268 patients with four copies of SMN2
    In: Journal of Neurology , Jg. 271 2024 , Nr. 5 , S. 2787 - 2797
    DOI (Open Access)
  • Gangfuß, Andrea; Rating, Philipp; Ferreira, Tomas; Hentschel, Andreas; Della Marina, Adela; Kölbel, Heike; Sickmann, Albert; Abicht, Angela; Kraft, Florian; Ruck, Tobias; Böhm, Johann; Schänzer, Anne; Schara-Schmidt, Ulrike; Neuhann, Teresa M.; Horvath, Rita; Roos, Andreas
    A Homozygous NDUFS6 Variant Associated with Neuropathy and Optic Atrophy
    In: Journal of Neuromuscular Diseases , Jg. 11 2024 , Nr. 2 , S. 485 - 491
    DOI (Open Access)
  • Roos, Andreas; Schmitt, Linda-Isabell; Hansmann, Christina; Hezel, Stefanie; Salmanian, Schahin; Hentschel, Andreas; Meyer, Nancy; Della Marina, Adela; 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
    DOI (Open Access)
  • Schwartz, Oliver; Vill, Katharina; Pfaffenlehner, Michelle; Kölbel, Heike; Schara-Schmidt, Ulrike; Hagenacker, Tim; Kirschner, Janbernd; Pechmann, Astrid; et al.; SMARTCARE study group
    Clinical Effectiveness of Newborn Screening for Spinal Muscular Atrophy
    In: JAMA Pediatrics , Jg. 178 2024 , Nr. 6 , S. 540 - 547
    DOI
  • Mercuri, Eugenio; Schara-Schmidt, Ulrike; EPIDYS Study Group
    Correction to Safety and efficacy of givinostat in boys with Duchenne muscular dystrophy (EPIDYS) : A multicentre, randomised, double-blind, placebo-controlled, phase 3 trial
    In: The Lancet Neurology , Jg. 23 2024 , Nr. 8 , e12
    DOI
  • Weiß, Claudia; Becker, Lena-Luise; Friese, Johannes; Schara, Ulrike; Ziegler, Andreas; SMArtCARE and Swiss-Reg-NMD study group
    Efficacy and safety of gene therapy with onasemnogene abeparvovec in children with spinal muscular atrophy in the D-A-CH-region : A population-based observational study
    In: The Lancet Regional Health - Europe , Jg. 47 2024 , 101092
    DOI (Open Access)
  • Servais, Laurent; Strijbos, Paul; Poleur, Margaux; Mirea, Andrada; Butoianu, Nina; Sansone, Valeria A.; Vuillerot, Carole; Schara-Schmidt, Ulrike; Scoto, Mariacristina; Seferian, Andreea M.; Previtali, Stefano C.; Tulinius, Már; Nascimento, Andrés; Furlong, Pat; Singh, Teji; Dreghici, Roxana Donisa; Goemans, Nathalie; Mercuri, Eugenio; Straub, Volker; Ormazabal, Maitea Guridi; Braid, Jessica; Muntoni, Francesco; Tricot, Alexis; Annoussamy, Mélanie; Eggenspieler, Damien
    Evidentiary basis of the first regulatory qualification of a digital primary efficacy endpoint
    In: Scientific Reports , Jg. 14 2024 , Nr. 1 , 29681
    DOI (Open Access)
  • Neuhoff, Katja; Kilicarslan, Ozge Aksel; Preuße, Corinna; Zaum, Ann-Kathrin; Kölbel, Heike; Lochmüller, Hanns; Schara-Schmidt, Ulrike; Polavarapu, Kiran; Roos, Andreas; Gangfuß, Andrea
    Expanding the Molecular Genetic Landscape of Dystrophinopathies and Associated Phenotypes
    In: Biomedicines , Jg. 12 2024 , Nr. 12 , 2738
    DOI (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
    DOI (Open Access)
  • Saffari, Afshin; Niesert, Moritz; Cannet, Claire; Blaschek, Astrid; Hahn, Andreas; Johannsen, Jessika; Kockaya, Musa; Kölbel, Heike; Hoffmann, Georg F.; Claus, Peter; Kölker, Stefan; Müller-Felber, Wolfgang; Roos, Andreas; Schara-Schmidt, Ulrike; Trefz, Friedrich K.; Vill, Katharina; Wick, Wolfgang; Weiler, Markus; Okun, Jürgen G.; Ziegler, Andreas
    Identification of Biochemical Determinants for Diagnosis and Prediction of Severity in 5q Spinal Muscular Atrophy Using ¹H-Nuclear Magnetic Resonance Metabolic Profiling in Patient-Derived Biofluids
    In: International Journal of Molecular Sciences (IJMS) , Jg. 25 2024 , Nr. 22 , 12123
    DOI (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
    DOI, Online Volltext (Open Access)
  • Olimpio, Catarina; Paramonov, Ida; Matalonga, Leslie; Laurie, Steven; Schon, Katherine; Polavarapu, Kiran; Kirschner, Janbernd; Schara-Schmidt, Ulrike; Lochmüller, Hanns; Chinnery, Patrick F.; Horvath, Rita
    Increased Diagnostic Yield by Reanalysis of Whole Exome Sequencing Data in Mitochondrial Disease
    In: Journal of Neuromuscular Diseases , Jg. 11 2024 , Nr. 4 , S. 767 - 775
    DOI (Open Access)
  • Della Marina, Adela; Hentschel, Andreas; Stenzel, Martin; Schara-Schmidt, Ulrike; Osmanovic, Alma; Ruck, Tobias; Grüneboom, Anika; Röbisch, Luisa; Beygo, Jasmin; Kölbel, Heike; Gangfuss, Andrea; Kaiser, Frank J.; Schänzer, Anne; Kale, Dipali; Roos, Andreas
    Lipid and protein imbalances in muscle of a FAR1-patient with a heterozygous de novo variant
    In: Journal of Neuropathology & Experimental Neurology (JNEN) , Jg. 83 2024 , Nr. 11 , S. 979 - 983
    DOI
  • 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; SMArtCARE Study Group
    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
    DOI, Online Volltext (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
    DOI
  • 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 , Jg. 34 2024 , Nr. 1 , e13200
    DOI (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 , Jg. 172 2024 , Nr. 7 , S. 595 - 600
    DOI (Open Access)
  • Della Marina, Adela; Hentschel, Andreas; Czech, Artur; Schara-Schmidt, Ulrike; Preusse, Corinna; Laner, Andreas; Abicht, Angela; Ruck, Tobias; Weis, Joachim; Choueiri, Catherine; Lochmüller, Hanns; Kölbel, Heike; Roos, Andreas
    Novel Genetic and Biochemical Insights into the Spectrum of NEFL-Associated Phenotypes
    In: Journal of Neuromuscular Diseases , Jg. 11 2024 , Nr. 3 , S. 625 - 645
    DOI (Open Access)
  • Athamneh, Mohammed; Daya, Nassam; Hentschel, Andreas; Gangfuss, Andrea; Ruck, Tobias; Della Marina, Adela; Schara-Schmidt, Ulrike; Sickmann, Albert; Güttsches, Anne-Katrin; Deschauer, Marcus; Preusse, Corinna; Vorgerd, Matthias; Roos, Andreas
    Proteomic studies in VWA1-related neuromyopathy allowed new pathophysiological insights and the definition of blood biomarkers
    In: Journal of Cellular and Molecular Medicine , Jg. 28 2024 , Nr. 8 , e18122
    DOI (Open Access)
  • Mercuri, Eugenio; Vilchez, Juan J.; Boespflug-Tanguy, Odile; Zaidman, Craig M.; Mah, Jean K.; Goemans, Nathalie; Müller-Felber, Wolfgang; Niks, Erik H.; Schara-Schmidt, Ulrike; Bertini, Enrico; Comi, Giacomo P.; Mathews, Katherine D.; Servais, Laurent; Vandenborne, Krista; Johannsen, Jessika; Messina, Sonia; Spinty, Stefan; McAdam, Laura; Selby, Kathryn; Byrne, Barry; Laverty, Chamindra G.; Carroll, Kevin; Zardi, Giulia; Cazzaniga, Sara; Coceani, Nicoletta; Bettica, Paolo; McDonald, Craig M.; EPIDYS Study Group
    Safety and efficacy of givinostat in boys with Duchenne muscular dystrophy (EPIDYS) : A multicentre, randomised, double-blind, placebo-controlled, phase 3 trial
    In: The Lancet Neurology , Jg. 23 2024 , Nr. 4 , S. 393 - 403
    DOI
  • Chiu, Celine; Küchler, Alma; Depienne, Christel; Preuße, Corinna; Della Marina, Adela; Reis, Andre; Kaiser, Frank J.; Nolte, Kay; Hentschel, Andreas; Schara-Schmidt, Ulrike; Kölbel, Heike; Roos, Andreas
    Skeletal muscle vulnerability in a child with Pitt-Hopkins syndrome
    In: Skeletal Muscle , Jg. 14 2024 , Nr. 1 , 15
    DOI (Open Access)
  • 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
    DOI (Open Access)
  • Dobelmann, Vera; Roos, Andreas; Hentschel, Andreas; Della Marina, Adela; Leo, Markus; Schmitt, Linda-Isabell; Maggi, Lorenzo; Schara-Schmidt, Ulrike; Hagenacker, Tim; Ruck, Tobias; Kölbel, Heike
    Thrombospondin-4 as potential cerebrospinal fluid biomarker for therapy response in pediatric spinal muscular atrophy
    In: Journal of Neurology , Jg. 271 2024 , Nr. 10 , S. 7000 - 7011
    DOI (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; Polavarapu, Kiran; Lochmüller, Hanns; Preusse, Corinna; Hannappel, Luis; Schänzer, Anne; Grüneboom, Anika; Gangfuß, Andrea; Roos, Andreas
    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
    DOI (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
    DOI (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; 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
    DOI (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; the SMArtCARE study group
    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
    DOI (Open Access)
  • 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
    DOI (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; SMArtCARE Study Group
    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
    DOI (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
    DOI (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
    DOI (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
    DOI
  • 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
    DOI (Open Access)
  • Bruns, Nora; Schara-Schmidt, Ulrike; Dohna-Schwake, Christian
    Pädiatrische Neurointensivmedizin
    In: Der Nervenarzt , Jg. 94 2023 , Nr. 2 , S. 75 - 83
    DOI
  • 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
    DOI (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; North Star Consortium
    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
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  • 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
    DOI (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
    DOI (Open Access)
  • 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; Della Marina, Adela; 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
    DOI (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
    DOI (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
    DOI (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 , Nr. Supplement 2 , S. 60 - 64
    DOI
  • 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
    DOI (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
    DOI (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
    DOI (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
    DOI (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
    DOI (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
    DOI
  • Gangfuß, Andrea; Schara-Schmidt, Ulrike; Roos, Andreas
    Genomik und Proteomik in der Erforschung neuromuskulärer Erkrankungen
    In: Der Nervenarzt , Jg. 93 2022 , Nr. 2 , S. 114 - 121
    DOI
  • 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
    DOI (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
    DOI (Open Access)
  • Pechmann, Astrid; Behrens, Max; Dörnbrack, Katharina; Hagenacker, Tim; Schara-Schmidt, Ulrike; Kölbel, Heike; Kirschner, Janbernd; et al.; 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
    DOI (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
    DOI
  • 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
    DOI (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
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    DOI
  • 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
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  • 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
    DOI
  • 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
    DOI, Online Volltext (Open Access)
  • Kölbel, Heike; Modler, Laura; Blaschek, Astrid; Schara-Schmidt, Ulrike; Vill, Katharina; Schwartz, Oliver; Müller-Felber, Wolfgang
    Parental Burden and Quality of Life in 5q-SMA diagnosed by Newborn Screening
    In: Children , Jg. 9 2022 , Nr. 12 , 1829
    DOI (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
    DOI
  • 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
    DOI (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)
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    DOI (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)
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    DOI (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
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    DOI (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
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    DOI (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
    DOI, 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
    DOI (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
    DOI (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
    DOI (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)
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    DOI (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
    DOI (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
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    DOI (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 , Jg. 9 2021 , Nr. 12 , e1767
    DOI, Online Volltext (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
    DOI (Open Access)
  • 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
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    DOI
  • 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
    DOI (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
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    DOI (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
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  • Markati, Theodora; De Waele, Liesbeth; Schara-Schmidt, Ulrike; Servais, Laurent
    Lessons Learned from Discontinued Clinical Developments in Duchenne Muscular Dystrophy
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    Muscular and molecular pathology associated with SPATA5 deficiency in a child with EHLMRS
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  • 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
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  • 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
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  • 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
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  • 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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  • 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
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  • Rosales, Juan Muñoz; Kölbel, Heike; Hagenacker, Tim; Schara-Schmidt, Ulrike
    Risdiplam : Aus Expertensicht
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    Risdiplam : Aus Expertensicht
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  • van Otterdijk, Salomé; Kölbel, Heike; Schönecker, Anne; Modler, L.; Marina, Adela Della; Neudorf, Ulrich; Schara, Ulrike
    SMA Clinical Data : Description of cardiac involvement in 5q SMA pediatric patients
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  • 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
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  • 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
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  • 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
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  • 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
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  • 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
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  • 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
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  • 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.
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  • 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?
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  • 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
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  • 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
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    Meta-analyses of ataluren randomized controlled trials in nonsense mutation Duchenne muscular dystrophy
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    Metabolic shift underlies recovery in reversible infantile respiratory chain deficiency
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  • Blaschek, Astrid; Vill, Katharina; Müller-Felber, Wolfgang; Schara, Ulrike
    Molekulare Therapien bei neuromuskulären Erkrankungen im Kindesalter : Große Hoffnungen und unbekannte Risiken
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  • 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
    New genotype-phenotype correlations in a large European cohort of patients with sarcoglycanopathy
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  • Schara, Ulrike
    Nicht-dystrophe Myotonie und periodische Paralysen
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    Sequential targeted exome sequencing of 1001 patients affected by unexplained limb-girdle weakness
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  • 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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    The clinical, histologic, and genotypic spectrum of SEPN1-related myopathy : A case series
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  • 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
    Treatment with Nusinersen - Challenges Regarding the Indication for Children with SMA Type 1
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    Zur Gentherapie der Spinalen Muskelatrophie mit Onasemnogene Abeparvovec : Stellungnahme der Gesellschaft für Neuropädiatrie
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  • Kölbel, Heike; Abicht, Angela; Schwartz, Oliver; Katona, Istvan; Paulus, Werner; Neuen-Jacob, Eva; Weis, Joachim; Schara, Ulrike
    Characteristic clinical and ultrastructural findings in nesprinopathies
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    Clinical long-time course, novel mutations and genotype-phenotype correlation in a cohort of 27 families with POMT1-related disorders
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  • 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
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  • Mayer, O. H.; Leinonen, M.; Servais, L.; Straathof, C.; Schara, Ulrike; Voit, Thomas; Mercuri, E.; Buyse, G.; Syros Investigators
    Evaluating the effect of long-term idebenone treatment on respiratory morbidity in patients with Duchenne muscular dystrophy (DMD)
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    Identification of Candidate Protein Markers in Skeletal Muscle of Laminin-211-Deficient CMD Type 1A-Patients.
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  • Preuße, Corinna; Moers, Arpad von; Kölbel, Heike; Pehl, Debora; Goebel, Hans-Hilmar; Schara, Ulrike; Stenzel, Werner
    Inflammation-induced fibrosis in skeletal muscle of female carriers of Duchenne muscular dystrophy
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  • Vill, Katharina; Kölbel, Heike; Schwartz, Oliver; Blaschek, Astrid; Olgemöller, Bernhard; Harms, Erik; Burggraf, Siegfried; Röschinger, Wulf; Durner, Jürgen; Gläser, Dieter; Nennstiel, Uta; Wirth, Brunhilde; Schara, Ulrike; Jensen, Beate; Becker, Marc; Hohenfellner, Katharina; Müller-Felber, Wolfgang
    One Year of Newborn Screening for SMA - Results of a German Pilot Project
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  • 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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  • 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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  • 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
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  • 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
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  • 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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    DMD Clinical Therapies I
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    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
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  • 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
    DOI (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
    DOI (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
    DOI (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
    DOI
  • Della Marina, Adela; Schara, Ulrike
    Juvenile Myasthenia gravis
    In: Aktuelle Neurologie , Jg. 45 2018 , Nr. 4 , S. 283 - 287
    DOI
  • 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
    DOI
  • 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
    DOI
  • 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
    DOI (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
    DOI
  • 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
    DOI (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
    DOI
  • 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
    DOI
  • 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
    DOI
  • 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
    DOI (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
    DOI (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
    DOI
  • 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
    DOI (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
    DOI
  • 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
    DOI (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
    DOI (Open Access)
  • 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
    DOI
  • 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
    DOI
  • 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
    DOI
  • 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
    DOI
  • 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
    DOI
  • 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
    DOI
  • 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
    DOI
  • 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
    DOI
  • 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
    DOI (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
    DOI
  • 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
    In: Neuromuscular Disorders , Jg. 26 2016 , Nr. Suppl. 2 , S. 103
    DOI
  • 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
    In: Neuromuscular Disorders , Jg. 26 2016 , Nr. Suppl. 2 , S. S116 - S117
    DOI
  • 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: The American Journal of Human Genetics , Jg. 98 2016 , Nr. 2 , S. 310 - 321
    DOI (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
    DOI
  • 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
    DOI
  • 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
    DOI (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
    DOI (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
    DOI
  • 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
    DOI
  • 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
    DOI (Open Access)
  • 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
    DOI
  • 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
    DOI
  • 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
    DOI
  • 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
    DOI (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
    DOI
  • 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
    DOI (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
    DOI
  • 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
    DOI
  • 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
    DOI (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
    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
    DOI
  • 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
    DOI
  • 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
    DOI
  • 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
    DOI (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
    DOI
  • 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
    DOI
  • 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
    DOI
  • 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
    DOI
  • 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: Frontiers in Genetics , Jg. 6 2015 , S. 21
    DOI (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
    DOI
  • 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
    DOI
  • 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
    DOI (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
    DOI
  • 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
    DOI
  • 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
    DOI
  • 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
    DOI
  • 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
    DOI
  • 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
    DOI
  • Schara, Ulrike
    Mitteilungen aus der Gesellschaft für Neuropädiatrie
    In: Neuropediatrics , Jg. 45 2014 , Nr. 2 , S. 132 - 132
    DOI
  • 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
    DOI
  • 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
    DOI
  • 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
    DOI (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
    DOI
  • 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
    DOI (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
    DOI (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
    DOI
  • Schara, Ulrike; Plecko, B.
    Mitteilungen aus der Gesellschaft für Neuropädiatrie
    In: Neuropediatrics , Jg. 44 2013 , Nr. 4 , S. 179
    DOI
  • 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
    DOI
  • 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
    DOI
  • 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
    DOI
  • 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
    DOI
  • 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
    DOI
  • 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
    DOI
  • 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
    DOI
  • 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
    DOI
  • 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
    DOI
  • 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
    DOI
  • 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
    DOI
  • 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
    DOI
  • Della Marina, A.; Abicht, A.; Schara, Ulrike
    Congenital myasthenic syndromes
    In: Nervenheilkunde , Jg. 30 2011 , Nr. 10 , S. 797 - 804
    DOI
  • 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
    DOI
  • 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
    DOI
  • 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
    DOI
  • 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: Der Schmerz , Jg. 25 2011 , Nr. 2 , S. 148 - 156
    DOI
  • 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
    DOI
  • 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
    DOI
  • 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
    DOI
  • 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
    DOI
  • 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
    DOI
  • 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
    DOI
  • 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
    DOI
  • 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
    DOI
  • 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
    DOI
  • 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
    DOI
  • 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
    DOI
  • 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
    DOI
  • 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
    DOI
  • Schara, Ulrike; Lochmüller, Hanns
    Therapeutic strategies in congenital myasthenic syndromes
    In: Neurotherapeutics , Jg. 5 2008 , Nr. 4 , S. 542 - 547
    DOI (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
    DOI
  • 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
    DOI (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
    DOI (Open Access)
  • Schara-Schmidt, Ulrike
    Neuropädiatrie trifft Neurologie : Gemeinsamkeiten – Unterschiede?
    In: Der Nervenarzt , Jg. 93 2022 , Nr. 2 , S. 111 - 113
    DOI (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 , 783
    DOI (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
    DOI

    • Abstracts

  • Gangfuss, Andrea; Rating, Philipp; Ferreira, Tomas; Hentschel, Andreas; Della Marina, Adela; Kölbel, Heike; Sickmann, Albert; Abicht, Angela; Kraft, Florian; Ruck, Tobias; Böhm, Johann; Schänzer, Anne; Schara-Schmidt, Ulrike; Neuhann, Teresa; Horvath, Rita; Roos, Andreas
    A Homozygous NDUfs6 Variant Associated with Neuropathy, Optic Atrophy and Protein Changes
    PNS Annual Meeting 2024; 22‐25 June 2024, Montreal, Canada,
    In: Journal of the Peripheral Nervous System , Jg. 29 2024 , Nr. Suppl. 3 , S. S.22
    DOI
  • Gangfuss, Andrea; Goj, Guido; Polz, Silke; Della Marina, Adela; Ahlbory, Katja; Deba, Timo; Kotzaeridou, Urania; Schuler, Elisabeth; Pechmann, Astrid; Diebold, Uta; Kurlemann, Gerd; Rostasy, Kevin; Heinzkyll, Lukas; Schmitt, Dirk; Böhm, Johann; Kölbel, Heike; Roos, Andreas; Schara-Schmidt, Ulrike
    Giant Axon Neuropathy (GAN): Cross-Sectional Data on Phenotypes, Genotypes and Biomarkers : The German Experience
    PNS Annual Meeting 2024; 22‐25 June 2024, Montreal, Canada,
    In: Journal of the Peripheral Nervous System , Jg. 29 2024 , Nr. Suppl. 3 , S. S.22 - S23
    DOI
  • Roos, Andreas; van der Ven, P.; Alrohaif, H.; Kölbel, Heike; Heil, L.; Della Marina, Adela; Weis, J.; Töpf, A.; Vorgerd, M.; Schara-Schmidt, Ulrike; Gangfuss, Andrea; Evangelista, T.; Hentschel, A.; Grüneboom, A.; Fuerst, D.; Küchler, Alma; Tzschach, A.; Depienne, Christel; Lochmüller, H.
    Bi-allelic variants of FILIP1 cause congenital myopathy, dysmorphism and neurological defects
    28th International Congress of the World Muscle Society, 3-7 October 2023, Charleston, South Carolina, USA,
    In: Neuromuscular Disorders , Jg. 33 2023 , Nr. Supplement 1 , S. S130
    DOI
  • 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
    DOI (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
    DOI (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
    DOI (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
    DOI (Open Access)
  • 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
    DOI
  • 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
    DOI
  • 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
    DOI
  • 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
    DOI
  • 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
    DOI (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
    DOI
  • 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
    DOI
  • 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
    DOI
  • 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
    DOI
  • 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
    DOI
  • 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
    DOI
  • 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
    DOI
  • 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
    DOI
  • 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
    DOI
  • 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
    DOI
  • 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
    DOI
  • 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 , Jg. 22 2012 , Nr. Supplement 1 , S. S16 - S17
    DOI
  • 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 , Jg. 22 2012 , S. 856
    DOI
  • 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 , Jg. 22 2012 , Nr. 9-10 , S. 856
    DOI
  • 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 , Jg. 22 2012 , Nr. 9-10 , S. 893 - 894
    DOI
  • 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 , Jg. 33 2010 , Nr. Suppl. 6 , S. 112 - 113
  • 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
    DOI
  • 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
    DOI
  • 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
    DOI
  • 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
    DOI
  • 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
    DOI
  • 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
    DOI

    • Bücher/Sammelwerke/Tagungsbände

  • Schara, Ulrike
    Phänotypen, Langzeitverläufe und Therapiestrategien bei seltenen neuromuskulären Erkrankungen
    Duisburg Essen 2008

    • Poster / Posterbeiträge

  • Braun, Frederik; Kaiser, Frank J.; Schara-Schmidt, Ulrike
    Clinical characterization of a cohort of female carriers of X-linked myotubular myopathy (XL-MTM) in Germany : extending the phenotypic spectrum and knowledge about the impact of heterozygous variants in the MTM1 gene
    57th European Society of Human Genetics (ESHG) Conference, June 1-4, 2024, Berlin, Germany,
    In: European Journal of Human Genetics , Jg. 32 2024 , Nr. Suppl. 2 , S. 1522
    (Open Access)
  • Kölbel, H.; Preuße, C.; Della-Marina, Adela; Schara-Schmidt, Ulrike; Goebel, H.; Roos, Andreas; Stenzel, W.
    A comprehensive study of the inflammatory signature in sarcoglycanopathies
    28th International Congress of the World Muscle Society, 3-7 October 2023, Charleston, South Carolina, USA,
    In: Neuromuscular Disorders , Jg. 33 2023 , Nr. Supplement 1 , S. S117
    DOI
  • Muntoni, F.; Mercuri, E.; Schara-Schmidt, Ulrike; Komaki, H.; Richardson, J.; Singh, T.; Guridi, M.; Mason, S.; Murphy, A.; Yu, L.; Reid, C.; Darton, E.; Wandel, C.; Mendell, J.
    EMBARK, a Phase 3 trial evaluating safety and efficacy of delandistrogene moxeparvovec in DMD : study design and baseline characteristics
    28th International Congress of the World Muscle Society, 3-7 October 2023, Charleston, South Carolina, USA,
    In: Neuromuscular Disorders , Jg. 33 2023 , Nr. Supplement 1 , S. S68 - S69
    DOI
  • Roos, A.; Kölbel, H.; Abicht, A.; Hentschel, A.; Schara-Schmidt, Ulrike; Kornblum, C.; Weis, J.; Reimann, J.
    First clinical and myopathological description of a congenital myopathy based on a homozygous variant in TNNI2
    28th International Congress of the World Muscle Society, 3-7 October 2023, Charleston, South Carolina, USA,
    In: Neuromuscular Disorders , Jg. 33 2023 , Nr. Supplement 1 , S. S125
    DOI
  • McDonald, C.; Servais, L.; Munell, F.; Schara-Schmidt, Ulrike; Bertini, E.; Comi, G.; Blaschek, A.; Cazzaniga, S.; Bettica, P.; Vandenborne, K.; Mercuri, E.
    Givinostat in Duchenne muscular dystrophy : effect on disease milestones
    28th International Congress of the World Muscle Society, 3-7 October 2023, Charleston, South Carolina, USA,
    In: Neuromuscular Disorders , Jg. 33 2023 , Nr. Supplement 1 , S. S106
    DOI
  • Kölbel, H.; Kopka, M.; Modler, L.; Plum, S.; Blaschek, A.; Schara-Schmidt, Ulrike; Vill, K.; Schwartz, O.; Müller-Felber, W.
    Impaired neurodevelopment in children with 5q-SMA - 2 years after newborn screening
    28th International Congress of the World Muscle Society, 3-7 October 2023, Charleston, South Carolina, USA,
    In: Neuromuscular Disorders , Jg. 33 2023 , Nr. Supplement 1 , S. S86
    DOI
  • 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
    27th International Congress of the World Muscle Society, 11 - 15 October 2022, Halifax, Nova Scotia, Canada,
    In: Neuromuscular Disorders , Jg. 32 2022 , Nr. Supplement 1 , S. S63 - S64
    DOI (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, Andreas
    ER-stress and UPR-activation in immune-mediated necrotizing myopathy
    26th International Congress of the World Muscle Society; 20th– 24th September 2021, Virtual,
    In: Neuromuscular Disorders , Jg. 31 2021 , Nr. Supplement 1, 26th International Congress of the World Muscle Society; 20th– 24th September 2021 , S. S53
    DOI
  • 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, Virtual,
    In: Neuromuscular Disorders , Jg. 31 2021 , Nr. Supplement 1: 26th International Congress of the World Muscle Society; 20th– 24th September 2021 , S. S96
    DOI
  • 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
    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, Virtual,
    In: Neuromuscular Disorders , Jg. 31 2021 , Nr. Supplement 1: 26th International Congress of the World Muscle Society; 20th– 24th September 2021 , S. S143
    DOI
  • Okorn, C. O.; Gewert, A. G.; Schwiertz, R. S.; Della Marina, ADM; Schara, Ulrike; Dohna-Schwake, Christian; Vester, Udo; Hoyer, Peter Friedrich
    Exercise-induced acute renal failure due to carnitine palmitoyltransferase II deficiency
    Pediatric Nephrology Spring Meeting 2009, March 28 – 31, 2009, Amsterdam, The Netherlands,
    In: Pediatric Nephrology , Jg. 24 2009 , Nr. 4 , S. 918 - 919
    DOI

    • 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