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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

  • Schara-Schmidt, Ulrike
    1. Lebenstag/m mit fehlender Spontanbewegung und respiratorischer Insuffizienz : Vorbereitung auf die Facharztprüfung: Fall 43
    In: Monatsschrift Kinderheilkunde Jg. 170 (2022) S. 60 - 64
    ISSN: 0026-9298; 1433-0474
  • 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
    ISSN: 1552-4833; 1552-4825
  • 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 (2022)
    ISSN: 1750-3639; 1015-6305
  • Hagenacker, Tim; Schara-Schmidt, Ulrike; Kleinschnitz, Christoph
    Genetisch basierte Therapien bei spinaler Muskelatrophie
    In: Der Nervenarzt (2022) in press
    ISSN: 1433-0407; 0028-2804
  • 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
    ISSN: 1096-9896; 0022-3417; 0368-3494
  • 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
    ISSN: 1098-1004; 1059-7794
  • Kölbel, Heike; Vill, Katharina; Schwartz, Oliver; Blaschek, Astrid; Nennstiel, Uta; Schara-Schmidt, Ulrike; Hoffmann, Georg F.; Gläser, Dieter; Röschinger, Wulf; Bernert, Günther; Klein, Andrea; Müller-Felber, Wolfgang
    Neugeborenenscreeningprogramm für die spinale Muskelatrophie
    In: Der Nervenarzt Jg. 93 (2022) S. 135 - 141
    ISSN: 1433-0407; 0028-2804
  • 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 (2022) in press
    ISSN: 1600-0455; 0284-1851; 0001-6926; 0365-5954
  • 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
    ISSN: 2214-3602; 2214-3599
  • 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 (2022) in press
    ISSN: 1433-0407; 0028-2804
  • Rascher, Wolfgang; Klingebiel, Thomas; Herting, Egbert; Hoffmann, Georg F.; Berner, Reinhard; Krägeloh-Mann, Ingeborg; Gärtner, Jutta; Zepp, Fred; Schara, Ulrike
    Arzneimittel für neuartige Therapien : Kurzfassung der Stellungnahme der Deutschen Gesellschaft für Kinder- und Jugendmedizin e. V. (DGKJ)
    In: Monatsschrift Kinderheilkunde Jg. 169 (2021) Nr. 1, S. 57 - 59
    ISSN: 1433-0474; 0026-9298
  • Rascher, Wolfgang; Klingebiel, Thomas; Herting, Egbert; Hoffmann, Georg F.; Berner, Reinhard; Krägeloh-Mann, Ingeborg; Gärtner, Jutta; Zepp, Fred; Schara, Ulrike
    Arzneimittel für neuartige Therapien – Perspektiven, Chancen, Herausforderungen : Stellungnahme der Deutschen Gesellschaft für Kinder- und Jugendmedizin e. V. (DGKJ)
    In: Monatsschrift Kinderheilkunde Jg. 169 (2021) Nr. 1, S. 18 - 28
    ISSN: 1433-0474; 0026-9298
  • Deschauer, Marcus; Hengel, Holger; Rupprich, Katrin; Kreiß, Martina; Schlotter-Weigel, Beate; Grimmel, Mona; Admard, Jakob; Schneider, Ilka; Alhaddad, Bader; Gazou, Anastasia; Sturm, Marc; Vorgerd, Matthias; Balousha, Ghassan; Balousha, Osama; Falna, Mohammed; Kirschke, Jan S.; Kornblum, Cornelia; Jordan, Berit; Kraya, Torsten; Strom, Tim M.; Weis, Joachim; Schöls, Ludger; Schara, Ulrike; Zierz, Stephan; Riess, Olaf; Meitinger, Thomas; Haack, Tobias B.
    Bi-allelic truncating mutations in VWA1 cause neuromyopathy
    In: Brain: A Journal of Neurology Jg. 144 (2021) Nr. 2, S. 574 - 583
    ISSN: 0006-8950; 1460-2156
  • Mohassel, Payam; Donkervoort, Sandra; Lone, Museer A.; Nalls, Matthew; Gable, Kenneth; Gupta, Sita D.; Foley, A. Reghan; Hu, Ying; Saute, Jonas Alex Morales; Moreira, Ana Lucila; Kok, Fernando; Introna, Alessandro; Logroscino, Giancarlo; Grunseich, Christopher; Nickolls, Alec R.; Pourshafie, Naemeh; Neuhaus, Sarah B.; Saade, Dimah; Gangfuß, Andrea; Kölbel, Heike; Piccus, Zoe; Le Pichon, Claire E.; Fiorillo, Chiara; Ly, Cindy V.; Töpf, Ana; Brady, Lauren; Specht, Sabine; Zidell, Aliza; Pedro, Helio; Mittelmann, Eric; Thomas, Florian P.; Chao, Katherine R.; Konersman, Chamindra G.; Cho, Megan T.; Brandt, Tracy; Straub, Volker; Connolly, Anne M.; Schara, Ulrike; Roos, Andreas; Tarnopolsky, Mark; Höke, Ahmet; Brown, Robert H.; Lee, Chia-Hsueh; Hornemann, Thorsten; Dunn, Teresa M.; Bönnemann, Carsten G.
    Childhood amyotrophic lateral sclerosis caused by excess sphingolipid synthesis
    In: Nature Medicine Jg. 27 (2021) Nr. 7, S. 1197 - 1204
    ISSN: 1546-170X; 1078-8956
  • 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 für Kinderheilkunde Jg. 169 (2021) Nr. 8, S. 738 - 747
    ISSN: 1433-0474; 0026-9298
  • 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
    ISSN: 2214-3602; 2214-3599
  • Rascher, Wolfgang; Klingebiel, Thomas; Herting, Egbert; Hoffmann, Georg F.; Berner, Reinhard; Krägeloh-Mann, Ingeborg; Gärtner, Jutta; Zepp, Fred; Schara, Ulrike
    Erratum zu : Arzneimittel für neuartige Therapien – Perspektiven, Chancen, Herausforderungen: Stellungnahme der Deutschen Gesellschaft für Kinder- und Jugendmedizin e. V. (DGKJ) (Monatsschrift Kinderheilkunde, (2020), 10.1007/s00112-020-01056-x) (Monatsschrift Kinderheilkunde, (2020), 10.1007/s00112-020-01068-7)
    In: Monatsschrift Kinderheilkunde Jg. 169 (2021) Nr. 1, S. 60 - 61
    ISSN: 1433-0474; 0026-9298
  • 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 (2021) in press
    ISSN: 1476-5438; 1018-4813
  • Vogt, Guido; El Choubassi, Naji; Herczegfalvi, Ágnes; Kölbel, Heike; Lekaj, Anja; Schara, Ulrike; Holtgrewe, Manuel; Krause, Sabine; Horvath, Rita; Schuelke, Markus; Hübner, Christoph; Mundlos, Stefan; Roos, Andreas; Lochmüller, Hanns; Karcagi, Veronika; Kornak, Uwe; Fischer-Zirnsak, Björn
    Expanding the clinical and molecular spectrum of ATP6V1A related metabolic cutis laxa
    In: Journal of inherited metabolic disease (JIMD) Jg. 44 (2021) Nr. 4, S. 972 - 986
    ISSN: 0141-8955; 1573-2665
  • Braun, Frederik; Gangfuß, Andrea; Stöbe, Petra; Haack, Tobias B.; Schweiger, Bernd; Roos, Andreas; Schara, Ulrike
    Expansion of the mutational spectrum of BMPER leading to diaphanospondylodysostosis and description of the associated disease process
    In: Molecular Genetics & Genomic Medicine (2021)
    ISSN: 2324-9269
  • 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
    ISSN: 1433-0407; 0028-2804
  • Schorling, David C.; Müller, Cornelia K.; Pechmann, Astrid; Borell, Sabine; Rosenfelder, Simone; Kölbel, Heike; Schara, Ulrike; Zieger, Barbara; Kirschner, Janbernd
    Impaired secretion of platelet granules in patients with Duchenne muscular dystrophy : results of a prospective diagnostic study
    In: Neuromuscular Disorders Jg. 31 (2021) Nr. 1, S. 35 - 43
    ISSN: 1873-2364; 0960-8966
  • 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
    ISSN: 1365-2990; 0305-1846
  • 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,
    ISSN: 2632-1297
  • Markati, Theodora; De Waele, Liesbeth; Schara-Schmidt, Ulrike; Servais, Laurent
    Lessons Learned from Discontinued Clinical Developments in Duchenne Muscular Dystrophy
    In: Frontiers in Pharmacology Jg. 12 (2021)
    ISSN: 1663-9812
  • Braun, Frederik; Hentschel, Andreas; Sickmann, Albert; Marteau, Theodore; Hertel, Swantje; Förster, Fabian; Prokisch, Holger; Wagner, Matias; Wortmann, Saskia; Della Marina, Adela; Kölbel, Heike; Roos, Andreas; Schara, Ulrike
    Muscular and molecular pathology associated with SPATA5 deficiency in a child with EHLMRS
    In: International Journal of Molecular Sciences (IJMS) Jg. 22 (2021) Nr. 15,
    ISSN: 1422-0067; 1661-6596
  • Annoussamy, Mélanie; Seferian, Andreea M.; Daron, Aurore; Péréon, Yann; Cances, Claude; Vuillerot, Carole; De Waele, Liesbeth; Laugel, Vincent; Schara, Ulrike; Gidaro, Teresa; Lilien, Charlotte; Hogrel, Jean-Yves; Carlier, Pierre; Fournier, Emmanuel; Lowes, Linda; Gorni, Ksenija; Ly-Le Moal, Myriam; Hellbach, Nicole; Seabrook, Timothy; Czech, Christian; Hermosilla, Ricardo; Servais, Laurent
    Natural history of Type 2 and 3 spinal muscular atrophy : 2-year NatHis-SMA study
    In: Annals of Clinical and Translational Neurology Jg. 8 (2021) Nr. 2, S. 359 - 373
    ISSN: 2328-9503
  • Müller-Felber, Wolfgang; Vill, Katharina; Schwartz, Oliver; Blaschek, Astrid; Nennstiel, Uta; Schara, Ulrike; Hoffmann, Georg Friedrich; Gläser, Dieter; Becker, Marc; Röschinger, Wulf; Bernert, Günther; Klein, Andrea; Kölbel, Heike
    Neugeborenenscreening auf spinale Muskelatrophie : Was muss der Pädiater wissen?
    In: Monatsschrift Kinderheilkunde (2021) in press
    ISSN: 0026-9298; 1433-0474
  • Vill, Katharina; Schwartz, Oliver; Blaschek, Astrid; Gläser, Dieter; Nennstiel, Uta; Wirth, Brunhilde; Burggraf, Siegfried; Röschinger, Wulf; Becker, Marc; Czibere, Ludwig; Durner, Jürgen; Eggermann, Katja; Olgemöller, Bernhard; Harms, Erik; Schara, Ulrike; Kölbel, Heike; Müller-Felber, Wolfgang
    Newborn screening for spinal muscular atrophy in Germany : Clinical results after 2 years
    In: Orphanet Journal of Rare Diseases Jg. 16 (2021) Nr. 1, S. 153
    ISSN: 1750-1172
  • Meyer, Robert; Begemann, Matthias; Hübner, Christian Thomas; Dey, Daniela; Küchler, Alma; Elgizouli, Magdeldin; Schara, Ulrike; Ambrozaityte, Laima; Burnyte, Birute; Schröder, Carmen; Kenawy, Asmaa; Kroisel, Peter; Demuth, Stephanie; Fekete, Gyorgy; Opladen, Thomas; Elbracht, Miriam; Eggermann, Thomas
    One test for all : Whole exome sequencing significantly improves the diagnostic yield in growth retarded patients referred for molecular testing for Silver–Russell syndrome
    In: Orphanet Journal of Rare Diseases (OJRD) Jg. 16 (2021) Nr. 1, S. 42
    ISSN: 1750-1172
  • 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
    In: Cells Jg. 10 (2021) Nr. 12,
    ISSN: 2073-4409
  • Hentschel, Andreas; Czech, Artur; Münchberg, Ute; Freier, Erik; Schara-Schmidt, Ulrike; Sickmann, Albert; Reimann, Jens; Roos, Andreas
    Protein signature of human skin fibroblasts allows the study of the molecular etiology of rare neurological diseases
    In: Orphanet Journal of Rare Diseases Jg. 16 (2021) Nr. 1, S. 73
    ISSN: 1750-1172
  • Rosales, Juan Muñoz; Kölbel, Heike; Hagenacker, Tim; Schara-Schmidt, Ulrike
    Risdiplam : Aus Expertensicht
    In: Psychopharmakotherapie Jg. 28 (2021) Nr. 5, S. 205 - 206
    ISSN: 0944-6877
  • van Otterdijk, S.; Kölbel, H.; Schönecker, A.; Modler, L.; Marina, A. Della; Neudorf, Ulrich; Schara, Ulrike
    SMA Clinical Data : Description of cardiac involvement in 5q SMA pediatric patients
    In: Neuromuscular Disorders Jg. 31 (2021) Nr. Suppl. 1, S. S125
    ISSN: 0960-8966; 1873-2364
  • Reumers, Stacha F. I.; Braun, Frederik; Spillane, Jennifer E.; Böhm, Johann; Pennings, Maartje; Schouten, Meyke; van der Kooi, Anneke J.; Foley, A Reghan; Bönnemann, Carsten G.; Kamsteeg, Erik-Jan; Erasmus, Corrie E.; Schara-Schmidt, Ulrike; Jungbluth, Heinz; Voermans, Nicol C.
    Spectrum of Clinical Features in X-Linked Myotubular Myopathy Carriers : An International Questionnaire Study
    In: Neurology Jg. 97 (2021) Nr. 5, S. e501 - e512
    ISSN: 1526-632X; 0028-3878
  • Saffari, Afshin; Cannet, Claire; Blaschek, Astrid; Hahn, Andreas; Hoffmann, Georg F.; Johannsen, Jessika; Kirsten, Romy; Kockaya, Musa; Kölker, Stefan; Müller-Felber, Wolfgang; Roos, Andreas; Schäfer, Hartmut; Schara, Ulrike; Spraul, Manfred; Trefz, Friedrich K.; Vill, Katharina; Wick, Wolfgang; Weiler, Markus; Okun, Jürgen G.; Ziegler, Andreas
    ¹H-NMR-based metabolic profiling identifies non-invasive diagnostic and predictive urinary fingerprints in 5q spinal muscular atrophy
    In: Orphanet Journal of Rare Diseases Jg. 16 (2021)
    ISSN: 1750-1172
  • Neuhaus, Sarah B.; Wallgren-Pettersson, Carina; Bönnemann, Carsten G.; Schara, Ulrike; Servais, Laurent; The Nemaline Working Group
    250th ENMC International Workshop : Clinical trial readiness in nemaline myopathy 6–8 September 2019, Hoofdorp, the Netherlands ; Workshop Report
    In: Neuromuscular Disorders Jg. 30 (2020) Nr. 10, S. 866 - 875
    ISSN: 1873-2364; 0960-8966
  • Meinke, Peter; Kerr, Alastair R.W.; Czapiewski, Rafal; de las Heras, Jose I.; Dixon, Charles R.; Harris, Elizabeth; Kölbel, Heike; Muntoni, Francesco; Schara, Ulrike; Straub, Volker; Schoser, Benedikt; Wehnert, Manfred; Schirmer, Eric C.
    A multistage sequencing strategy pinpoints novel candidate alleles for Emery-Dreifuss muscular dystrophy and supports gene misregulation as its pathomechanism
    In: EBioMedicine Jg. 51 (2020)
    ISSN: 2352-3964
  • Kölbel, Heike; Roos, Andreas; van der Ven, Peter F. M.; Evangelista, Teresinha; Nolte, Kay; Johnson, Katherine; Töpf, Ana; Wilson, Michael; Kress, Wolfram; Sickmann, Albert; Straub, Volker; Kollipara, Laxmikanth; Weis, Joachim; Fürst, Dieter O.; Schara, Ulrike
    First clinical and myopathological description of a myofibrillar myopathy with congenital onset and homozygous mutation in FLNC
    In: Human Mutation Jg. 41 (2020) Nr. 9, S. 1600 - 1614
    ISSN: 1098-1004; 1059-7794
  • Paul, Luisa; Rupprich, Katrin; Della Marina, Adela; Eckstein, Anja; Elgizouli, Magdeldin; Kaiser, Frank J.; Schweiger, Bernd; Köninger, Angela; Iannaccone, Antonella; Hehr, Ute; Kölbel, Heike; Roos, Andreas; Schara-Schmidt, Ulrike; Küchler, Alma
    Further evidence for POMK as candidate gene for WWS with meningoencephalocele
    In: Orphanet Journal of Rare Diseases Jg. 15 (2020) S. 242
    ISSN: 1750-1172
  • Ziegler, Andreas; Wilichowski, Ekkehard; Schara, Ulrike; Hahn, Andreas; Müller-Felber, Wolfgang; Johannsen, Jessika; von der Hagen, Maja; von Moers, Arpad; Stoltenburg, Corinna; Saffari, Afshin; Walter, Maggie C.; Husain, Ralf A.; Pechmann, Astrid; Köhler, Cornelia; Horber, Veronka; Schwartz, Oliver; Kirschner, Janbernd
    Handlungsempfehlungen zur Gentherapie der spinalen Muskelatrophie mit Onasemnogene Abeparvovec – AVXS-101 : Konsensuspapier der deutschen Vertretung der Gesellschaft für Neuropädiatrie (GNP) und der deutschen Behandlungszentren unter Mitwirkung des Medizinisch-Wissenschaftlichen Beirates der Deutschen Gesellschaft für Muskelkranke (DGM) e. V.
    In: Der Nervenarzt Jg. 91 (2020) Nr. 6, S. 518 - 529
    ISSN: 1433-0407; 0028-2804
  • Müller-Felber, Wolfgang; Vill, Katharina; Schwartz, Oliver; Gläser, Dieter; Nennstiel, Uta; Wirth, Brunhilde; Burggraf, Siegfried; Röschinger, Wulf; Becker, Marc; Durner, Jürgen; Eggermann, Katja; Müller, Christine; Hannibal, Iris; Olgemöller, Bernd; Schara, Ulrike; Blaschek, Astrid; Kölbel, Heike
    Infants Diagnosed with Spinal Muscular Atrophy and 4 SMN2 Copies through Newborn Screening - Opportunity or Burden?
    In: Journal of Neuromuscular Diseases Jg. 7 (2020) Nr. 2, S. 109 - 117
    ISSN: 2214-3602; 2214-3599
  • Della Marina, Adela; Wibbeler, Eva; Abicht, Angela; Kölbel, Heike; Lochmüller, Hanns; Roos, Andreas; Schara, Ulrike
    Long Term Follow-Up on Pediatric Cases With Congenital Myasthenic Syndromes : A Retrospective Single Centre Cohort Study
    In: Frontiers in Human Neuroscience Jg. 14 (2020)
    ISSN: 1662-5161
  • Servais, Laurent; Straathof, Chiara S.M.; Schara, Ulrike; Klein, Andrea; Leinonen, Mika; Hasham, Shabir; Meier, Thomas; De Waele, Liesbeth; Gordish-Dressman, Heather; McDonald, Craig M.; Mayer, Oscar H.; Voit, Thomas; Mercuri, Eugenio; Buyse, Gunnar M.
    Long-term data with idebenone on respiratory function outcomes in patients with Duchenne muscular dystrophy
    In: Neuromuscular Disorders Jg. 30 (2020) Nr. 1, S. 5 - 16
    ISSN: 0960-8966; 1873-2364
  • Schara, Ulrike
    Meta-analyses of ataluren randomized controlled trials in nonsense mutation Duchenne muscular dystrophy
    In: Journal of Comparative Effectiveness Research Jg. 9 (2020) Nr. 14, S. 973 - 984
    ISSN: 2042-6305; 2042-6313
  • Hathazi, Denisa; Griffin, Helen; Jennings, Matthew J.; Giunta, Michele; Powell, Christopher; Pearce, Sarah F.; Munro, Benjamin; Wei, Wei; Boczonadi, Veronika; Poulton, Joanna; Pyle, Angela; Calabrese, Claudia; Gomez-Duran, Aurora; Schara, Ulrike; Pitceathly, Robert; Hanna, Michael G.; Joost, Kairit; Cotta, Ana; Paim, Julia Filardi; Navarro, Monica Machado; Duff, Jennifer; Mattman, Andre; Chapman, Kristine; Servidei, Serenella; Della Marina, Adela; Uusimaa, Johanna; Roos, Andreas; Mootha, Vamsi; Hirano, Michio; Tulinius, Mar; Giri, Manta; Hoffmann, Eric P.; Lochmüller, Hanns; DiMauro, Salvatore; Minczuk, Michal; Chinnery, Patrick F.; Müller, Juliane S.; Horvath, Rita
    Metabolic shift underlies recovery in reversible infantile respiratory chain deficiency
    In: The EMBO Journal Jg. 39 (2020) Nr. 23, S. e105364
    ISSN: 1460-2075; 0261-4189
  • Blaschek, Astrid; Vill, Katharina; Müller-Felber, Wolfgang; Schara, Ulrike
    Molekulare Therapien bei neuromuskulären Erkrankungen im Kindesalter : Große Hoffnungen und unbekannte Risiken
    In: Bundesgesundheitsblatt - Gesundheitsforschung - Gesundheitsschutz Jg. 63 (2020) Nr. 7, S. 891 - 897
    ISSN: 1437-1588; 1436-9990
  • 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
    In: Brain: A Journal of Neurology Jg. 143 (2020) Nr. 9, S. 2696 - 2708
    ISSN: 0006-8950; 1460-2156
  • Schara, Ulrike
    Nicht-dystrophe Myotonie und periodische Paralysen
    In: Pädiatrische Praxis Jg. 93 (2020) Nr. 2, S. 237 - 240
    ISSN: 2198-1698; 0030-9346
  • Töpf, Ana; Johnson, Katherine; Bates, Adam; Phillips, Lauren; Chao, Katherine R.; England, Eleina M.; Laricchia, Kristen M.; Mullen, Thomas; Valkanas, Elise; Xu, Liwen; Bertoli, Marta; Blain, Alison; Casasús, Ana B.; Duff, Jennifer; Mroczek, Magdalena; Specht, Sabine; Lek, Monkol; Ensini, Monica; MacArthur, Daniel G.; Akay, Ela; Alonso-Pérez, Jorge; Baets, Jonathan; Barisic, Nina; Bastian, Alexandra; Borell, Sabine; Chamova, Teodora; Claeys, Kristl; Colomer, Jaume; Coppens, Sandra; Deconinck, Nicolas; de Ridder, Willem; Díaz-Manera, Jordi; Domínguez-González, Cristina; Duncan, Alexis; Durmus, Hacer; Fahmy, Nagia A.; Farrugia, Maria Elena; Fernández-Torrón, Roberto; Gonzalez-Quereda, Lidia; Haberlova, Jana; von der Hagen, Maja; Hahn, Andreas; Jakovčević, Antonia; Jerico Pascual, Ivonne; Kapetanovic, Solange; Kenina, Viktorija; Kirschner, Janbernd; Klein, Andrea; Kölbel, Heike; Kostera-Pruszczyk, Anna; Kulshrestha, Richa; Lähdetie, Jaana; Layegh, Mahsa; Longman, Cheryl; López de Munain, Adolfo; Loscher, Wolfgang; Lusakowska, Anna; Maddison, Paul; Magot, Armelle; Majumdar, Anirban; Martí, Pilar; Martínez Arroyo, Amaia; Mazanec, Radim; Mercier, Sandra; Mongini, Tiziana; Muelas, Nuria; Nascimento, Andrés; Nafissi, Shahriar; Omidi, Shirin; Ortez, Carlos; Paquay, Stéphanie; Pereon, Yann; Perić, Stojan; Ponzalino, Valentina; Rakočević Stojanović, Vidosava; Remiche, Gauthier; Rodríguez Sainz, Aida; Rudnik, Sabine; Sanchez Albisua, Iciar; Santos, Manuela; Schara, Ulrike; Shatillo, Andriy; Sertić, Jadranka; Stephani, Ulrich; Strang-Karlsson, Sonja; Sznajer, Yves; Tanev, Ani; Tournev, Ivailo; Van den Bergh, Peter; Van Parijs, Vinciane; Vílchez, Juan; Vill, Katharina; Vissing, John; Wallgren-Pettersson, Carina; Wanschitz, Julia; Willis, Tracey; Witting, Nanna; Zulaica, Miren; Straub, Volker
    Sequential targeted exome sequencing of 1001 patients affected by unexplained limb-girdle weakness
    In: Genetics in Medicine (GIM) Jg. 22 (2020) Nr. 9, S. 1478 - 1488
    ISSN: 1530-0366; 1098-3600
  • 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
    In: Neuromuscular Disorders Jg. 30 (2020) Nr. 12, S. 975 - 985
    ISSN: 1873-2364; 0960-8966
  • Villar-Quiles, Rocio N.; von der Hagen, Maja; Métay, Corinne; Gonzalez, Victoria; Donkervoort, Sandra; Bertini, Enrico; Castiglioni, Claudia; Chaigne, Denys; Colomer, Jaume; Cuadrado, Maria Luz; de Visser, Marianne; Desguerre, Isabelle; Eymard, Bruno; Goemans, Nathalie; Kaindl, Angela; Lagrue, Emmanuelle; Lütschg, Jürg; Malfatti, Edoardo; Mayer, Michèle; Merlini, Luciano; Orlikowski, David; Reuner, Ulrike; Salih, Mustafa A.; Schlotter-Weigel, Beate; Stoetter, Mechthild; Straub, Volker; Topaloglu, Haluk; Urtizberea, J Andoni; van der Kooi, Anneke; Wilichowski, Ekkehard; Romero, Norma B.; Fardeau, Michel; Bönnemann, Carsten G.; Estournet, Brigitte; Richard, Pascale; Quijano-Roy, Susana; Schara, Ulrike; Ferreiro, Ana
    The clinical, histologic, and genotypic spectrum of SEPN1-related myopathy : A case series
    In: Neurology Jg. 95 (2020) Nr. 11, S. e1512 - e1527
    ISSN: 1526-632X
  • 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
    In: Journal of Neuromuscular Diseases Jg. 7 (2020) Nr. 1, S. 41 - 46
    ISSN: 2214-3602; 2214-3599
  • Kirschner, Janbernd; Bernert, Günther; v. der Hagen, Maja; Hahn, Andreas; Johannsen, Jessika; Klein, Andrea; Müller-Felber, Wolfgang; Ziegler, Andreas; Schara, Ulrike
    Zur Gentherapie der Spinalen Muskelatrophie mit Onasemnogene Abeparvovec : Stellungnahme der Gesellschaft für Neuropädiatrie
    In: Monatsschrift Kinderheilkunde (2020)
    ISSN: 0026-9298; 1433-0474
  • Kölbel, Heike; Abicht, Angela; Schwartz, Oliver; Katona, Istvan; Paulus, Werner; Neuen-Jacob, Eva; Weis, Joachim; Schara, Ulrike
    Characteristic clinical and ultrastructural findings in nesprinopathies
    In: European Journal of Paediatric Neurology Jg. 23 (2019) Nr. 2, S. 254 - 261
    ISSN: 1532-2130; 1090-3798
  • Geis, Tobias; Rödl, Tanja; Topaloǧlu, Haluk; Balci-Hayta, Burcu; Hinreiner, Sophie; Müller-Felber, Wolfgang; Schoser, Benedikt; Mehraein, Yasmin; Hübner, Angela; Zirn, Birgit; Hoopmann, Markus; Reutter, Heiko; Mowat, David; Schuierer, Gerhard; Schara, Ulrike; Hehr, Ute; Kölbel, Heike
    Clinical long-time course, novel mutations and genotype-phenotype correlation in a cohort of 27 families with POMT1-related disorders
    In: Orphanet Journal of Rare Diseases Jg. 14 (2019) Nr. 1,
    ISSN: 1750-1172
  • Dittrich, Sven; Graf, Erika; Trollmann, Regina; Neudorf, Ulrich; Schara, Ulrike; Heilmann, Antje; Hagen, Maja von der; Stiller, Brigitte; Kirschner, Janbernd; Pozza, Robert Dalla; Müller-Felber, Wolfgang; Weiss, Katja; Au, Katja von; Khalil, Markus; Motz, Reinald; Korenke, Christoph; Lange, Martina; Wilichowski, Ekkehard; Pattathu, Joseph; Ebinger, Friedrich; Wiechmann, Nicola; Schröder, Rolf
    Effect and safety of treatment with ACE-inhibitor Enalapril and β-blocker metoprolol on the onset of left ventricular dysfunction in Duchenne muscular dystrophy : a randomized, double-blind, placebo-controlled trial
    In: Orphanet Journal of Rare Diseases Jg. 14 (2019) Nr. 1, S. 105
    ISSN: 1750-1172
  • 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)
    In: European Respiratory Journal Jg. 54 (2019) Nr. Suppl. 63,
    ISSN: 0903-1936; 1399-3003
  • Kölbel, Heike; Hathazi, Denisa; Jennings, Matthew; Horvath, Rita; Roos, Andreas; Schara, Ulrike
    Identification of Candidate Protein Markers in Skeletal Muscle of Laminin-211-Deficient CMD Type 1A-Patients.
    In: Frontiers in Neurology Jg. 10 (2019) S. 470
    ISSN: 1664-2295
  • 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
    In: Neuromuscular Disorders Jg. 29 (2019) Nr. 7, S. 487 - 496
    ISSN: 0960-8966; 1873-2364
  • 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
    In: Journal of Neuromuscular Diseases Jg. 6 (2019) Nr. 4, S. 503 - 515
    ISSN: 2214-3602; 2214-3599
  • 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
    In: Orphanet Journal of Rare Diseases Jg. 14 (2019) Nr. 1, S. 18
    ISSN: 1750-1172
  • 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
    In: Brain: A Journal of Neurology Jg. 142 (2019) Nr. 8, S. 2230 - 2237
    ISSN: 0006-8950; 1460-2156
  • Annoussamy, Mélanie; Lilien, Charlotte; Gidaro, Teresa; Gargaun, Elena; Chê, Virginie; Schara, Ulrike; Gangfuß, Andrea; D'Amico, Adele; Dowling, James J.; Darras, Basil T.; Daron, Aurore; Hernandez, Arturo; De Lattre, Capucine; Arnal, Jean-Michel; Mayer, Michèle; Cuisset, Jean-Marie; Vuillerot, Carole; Fontaine, Stéphanie; Bellance, Rémi; Biancalana, Valérie; Buj-Bello, Ana; Hogrel, Jean-Yves; Landy, Hal; Servais, Laurent
    X-linked myotubular myopathy: A prospective international natural history study
    In: Neurology Jg. 92 (2019) Nr. 16, S. E1852 - E1867
    ISSN: 1526-632X; 0028-3878
  • Aartsma-Rus, Annemieke; Ferlini, Alessandra; McNally, Elizabeth M.; Spitali, Pietro; Sweeney, H. Lee; Szigyarto, Christina Al-Khalili; Bello, Luca; Bronson, Abby; Brown, Kristy; Buccella, Filippo; Chadwick, Jessica; Frank, Diane; Hoffman, Eric; Larkindale, Jane; McClorey, G.; Munschauer, Rick; Muntoni, Francesco; Owens, Jane; Schara, Ulrike; Straub, Volker; Tinsley, Jon; Versnel, Jenny; Vroom, Elizabeth; Welch, Ellen
    226th ENMC International Workshop : Towards validated and qualified biomarkers for therapy development for Duchenne muscular dystrophy 20–22 January 2017, Heemskerk, The Netherlands
    In: Neuromuscular Disorders Jg. 28 (2018) Nr. 1, S. 77 - 86
    ISSN: 1873-2364; 0960-8966
  • Crow, Rebecca A.; Hart, Kimberly A.; McDermott, Michael P.; Tawil, Rabi; Martens, William B.; Herr, Barbara E.; McColl, Elaine; Wilkinson, Jennifer; Kirschner, Janbernd; King, Wendy M.; Eagle, Michele; Brown, Mary W.; Hirtz, Deborah; Lochmuller, Hanns; Straub, Volker; Ciafaloni, Emma; Shieh, Perry B.; Spinty, Stefan; Childs, Anne-Marie; Manzur, Adnan Y.; Morandi, Lucia; Butterfield, Russell J.; Horrocks, Iain; Roper, Helen; Flanigan, Kevin M.; Kuntz, Nancy L.; Mah, Jean K.; Morrison, Leslie; Darras, Basil T.; von der Hagen, Maja; Schara, Ulrike; Wilichowski, Ekkehard; Mongini, Tiziana; McDonald, Craig M.; Vita, Giuseppe; Barohn, Richard J.; Finkel, Richard S.; Wicklund, Matthew; McMillan, Hugh J.; Hughes, Imelda; Pegoraro, Elena; Bryan Burnette, W.; Howard, James F.; Thangarajh, Mathula; Campbell, Craig; Griggs, Robert C.; Bushby, Kate; Guglieri, Michela
    A checklist for clinical trials in rare disease : Obstacles and anticipatory actions-lessons learned from the FOR-DMD trial
    In: Trials Jg. 19 (2018) Nr. 1, S. 291
    ISSN: 1745-6215
  • 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.
    Congenital Myopathies (CNM)
    In: Neuromuscular Disorders Jg. 28 (2018) Nr. SUPPL. 2, S. S71
    ISSN: 0960-8966
  • Topaloğlu, H.; Fischer, D.; Hafner, P.; Spinty, S.; Schara, Ulrike; Dorchies, O.; Orsini, A.; Schmidt, S.; Rubino-Nacht, D.; Nascimiento Osorio, A.
    DMD Clinical Therapies I
    In: Neuromuscular Disorders Jg. 28 (2018) Nr. SUPPL. 2, S. S65
    ISSN: 0960-8966
  • Hinze, Claas H.; Oommen, Prasad T.; Dressler, Frank; Urban, Andreas; Weller-Heinemann, Frank; Speth, Fabian; Lainka, Elke; Brunner, Jürgen; Fesq, Heike; Foell, Dirk; Müller-Felber, Wolfgang; Neudorf, Ulrich; Rietschel, Christoph; Schwarz, Tobias; Schara, Ulrike; Haas, Johannes-Peter
    Development of practice and consensus-based strategies including a treat-to-target approach for the management of moderate and severe juvenile dermatomyositis in Germany and Austria
    In: Pediatric Rheumatology Jg. 16 (2018) Nr. 1, S. 40
    ISSN: 1546-0096
  • 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
    ISSN: 1532-2688; 1059-1311
  • 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
    ISSN: 2214-3602; 2214-3599
  • Neubauer, Bernd A; Schara, Ulrike; Gesellschaft für Neuropädiatrie
    In Memoriam : Professor Hermann Doose
    In: Neuropediatrics Jg. 49 (2018) Nr. 4, S. 299 - 300
    ISSN: 0174-304X
  • 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
    ISSN: 1439-3824; 0300-8630
  • Della Marina, Adela; Schara, Ulrike
    Juvenile Myasthenia gravis
    In: Aktuelle Neurologie Jg. 45 (2018) Nr. 4, S. 283 - 287
    ISSN: 1438-9428; 0302-4350
  • 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
    ISSN: 1740-2883; 1740-2875
  • 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
    ISSN: 0960-8966
  • 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
    ISSN: 1932-6203
  • 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
    ISSN: 0960-8966
  • 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
    ISSN: 1554-8635; 1554-8627
  • 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
    ISSN: 1433-0407; 0028-2804
  • 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
    ISSN: 0960-8966
  • 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
    ISSN: 0960-8966
  • 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: The Lancet Jg. 390 (2017) Nr. 10101, S. 1489 - 1498
    ISSN: 1474-547X; 0140-6736; 0023-7507; 0099-5355
  • 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
    ISSN: 1873-2364; 0960-8966
  • 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
    ISSN: 0006-8950; 1460-2156
  • 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
    ISSN: 1932-6203
  • 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
    ISSN: 1873-2364; 0960-8966
  • 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
    ISSN: 1551-7144; 1559-2030
  • 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
    ISSN: 1932-6203
  • 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
    ISSN: 0960-8966
  • 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
    ISSN: 0960-8966
  • 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
    ISSN: 0960-8966
  • 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
    ISSN: 0174-304X; 1439-1899; 0077-7811; 0028-3797
  • Dzietko, M.; Schara, Ulrike; Felderhoff-Müser, Ursula
    Perinataler Schlaganfall und Sinusvenenthrombose : Klinik, Diagnostik und therapeutische Ansätze
    In: Monatsschrift für Kinderheilkunde Jg. 165 (2017) Nr. 7, S. 596 - 604
    ISSN: 1433-0474; 0026-9298
  • 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
    ISSN: 0960-8966
  • 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
    ISSN: 0960-8966
  • 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
    ISSN: 0028-2804; 1433-0407
  • 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
    ISSN: 2567-5788
  • 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
    ISSN: 1099-0496; 8755-6863
  • 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
    ISSN: 1439-1899
  • 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
    ISSN: 0960-8966
  • 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
    ISSN: 0960-8966
  • Jansen, Jos C.; Cirak, Sebahattin; van Scherpenzeel, Monique; Timal, Sharita; Reunert, Janine; Rust, Stephan; Pérez, Belén; Vicogne, Dorothée; Krawitz, Peter; Wada, Yoshinao; Ashikov, Angel; Pérez-Cerdá, Celia; Medrano, Celia; Arnoldy, Andrea; Hoischen, Alexander; Huijben, Karin; Steenbergen, Gerry; Quelhas, Dulce; Diogo, Luisa; Rymen, Daisy; Jaeken, Jaak; Guffon, Nathalie; Cheillan, David; van den Heuvel, Lambertus P.; Maeda, Yusuke; Kaiser, Olaf; Schara, Ulrike; Gerner, Patrick; van den Boogert, Marjolein A.W.; Holleboom, Adriaan G.; Nassogne, Marie-Cécile; Sokal, Etienne; Salomon, Jody; van den Bogaart, Geert; Drenth, Joost P.H.; Huynen, Martijn A.; Veltman, Joris A.; Wevers, Ron A.; Morava, Eva; Matthijs, Gert; Foulquier, François; Marquardt, Thorsten; Lefeber, Dirk J.
    CCDC115 Deficiency Causes a Disorder of Golgi Homeostasis with Abnormal Protein Glycosylation
    In: American Journal of Human Genetics Jg. 98 (2016) Nr. 2, S. 310 - 321
    ISSN: 0002-9297
  • 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
    ISSN: 0012-1622
  • 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
    ISSN: 1399-0004; 0009-9163
  • 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
    ISSN: 2051-5960
  • 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
    ISSN: 0006-8950; 1460-2156
  • 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
    ISSN: 0960-8966
  • 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
    ISSN: 1873-2364; 0960-8966
  • 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
    ISSN: 1873-2364
  • 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
    ISSN: 1439-1899
  • 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 für Kinderheilkunde Jg. 164 (2016) Nr. 2, S. 86 - 88
    ISSN: 0026-9298; 1433-0474
  • 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
    ISSN: 0960-8966
  • 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 Jg. 39 (2016) Nr. 3, S. 427 - 436
    ISSN: 1573-2665
  • 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
    ISSN: 0960-8966
  • 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
    ISSN: 0960-8966
  • 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
    ISSN: 0960-8966
  • 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
    ISSN: 0938-7994; 1432-1084
  • 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
    ISSN: 1932-6203
  • Buyse, Gunnar M; Voit, Thomas; Schara, Ulrike; Straathof, Chiara S M; D'Angelo, M Grazia; Bernert, Günther; Cuisset, Jean-Marie; Finkel, Richard S; Goemans, Nathalie; McDonald, Craig M; Rummey, Christian; Meier, Thomas; DELOS Study Group; Lutz, S
    Efficacy of idebenone on respiratory function in patients with Duchenne muscular dystrophy not using glucocorticoids (DELOS) : a double-blind randomised placebo-controlled phase 3 trial
    In: Lancet Jg. 385 (2015) Nr. 9979, S. 1748 - 1757
    ISSN: 0140-6736; 1474-547X
  • 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
    ISSN: 1357-2725
  • 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
    ISSN: 0009-4846
  • 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
    ISSN: 0960-8966
  • 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
    ISSN: 1479-9723; 1479-9731
  • 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
    ISSN: 0960-8966
  • 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
    ISSN: 0028-3878; 1526-632X
  • 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
    ISSN: 0960-8966
  • 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
    ISSN: 1155-5645; 1460-9592
  • Euro, Liliya; Konovalova, Svetlana; Asin-Cayuela, Jorge; Tulinius, Már; Griffin, Helen; Horvath, Rita; Taylor, Robert W; Chinnery, Patrick F; Schara, Ulrike; Thorburn, David R; Suomalainen, Anu; Chihade, Joseph; Tyynismaa, Henna
    Structural modeling of tissue-specific mitochondrial alanyl-tRNA synthetase (AARS2) defects predicts differential effects on aminoacylation
    In: Front Genet Jg. 6 (2015) S. 21
    ISSN: 1664-8021
  • 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
    ISSN: 1438-2199; 0939-4451
  • 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
    ISSN: 0960-8966
  • 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: AJP Reports Jg. 4 (2014) Nr. 1, S. 017 - 022
    ISSN: 2157-6998
  • 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
    ISSN: 0960-8966
  • 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
    ISSN: 0722-5091
  • 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
    ISSN: 0960-8966; 1873-2364
  • 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
    ISSN: 0960-8966
  • 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
    ISSN: 1090-3798
  • Spönemann, N.; Della~Marina, A.; Finetti, C.; Schara, Ulrike; Lutz, S.
    Isolierte Ataxie als Erstsymptom eines thorakalen Neuroblastoms : Das Opsoklonus-Myoklonus-Syndrom
    In: Padiatrische Praxis Jg. 82 (2014) Nr. 3, S. 407 - 415
    ISSN: 0030-9346
  • 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
    ISSN: 0174-304X; 1439-1899
  • Schara, Ulrike
    Mitteilungen aus der Gesellschaft für Neuropädiatrie
    In: Neuropediatrics Jg. 45 (2014) Nr. 2, S. 132 - 132
    ISSN: 0174-304X
  • 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
    ISSN: 0960-8966
  • 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
    ISSN: 1873-2364
  • 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
    ISSN: 0960-8966
  • 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
    ISSN: 1538-3598; 0002-9955
  • 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
    ISSN: 0174-304X
  • 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
    ISSN: 1460-2083; 0964-6906
  • 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
    ISSN: 1553-7390; 1553-7404
  • 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
    ISSN: 1526-632X
  • Schara, Ulrike; Plecko, B.
    Mitteilungen aus der Gesellschaft für Neuropädiatrie
    In: Neuropediatrics Jg. 44 (2013) Nr. 4, S. 179
    ISSN: 0174-304X
  • 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
    ISSN: 1699-5848; 0213-3911
  • 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
    ISSN: 0030-9346
  • 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
    ISSN: 2192-8304; 2192-8312
  • 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
    ISSN: 0883-0738; 1708-8283; 1702-6075; 1708-8828
  • 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
    ISSN: 0174-304X; 1439-1899; 0077-7811; 0028-3797
  • 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
    ISSN: 0340-5354; 1432-1459; 0012-1037; 0939-1517; 1619-800X
  • 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
    ISSN: 1098-1004; 1059-7794
  • 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
    ISSN: 0174-304X; 1439-1899
  • 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
    ISSN: 1098-1004; 1059-7794
  • Vry, J.; Schara, Ulrike; Lutz, S.; Kirschner, J.
    Diagnose und Therapie der Muskeldystrophie Duchenne
    In: Monatsschrift für Kinderheilkunde Jg. 160 (2012) Nr. 2, S. 177 - 186
    ISSN: 1433-0474; 0026-9298
  • 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
    ISSN: 1098-1004; 1059-7794
  • 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
    ISSN: 2046-6854
  • 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
    ISSN: 0340-5354
  • 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
    ISSN: 0141-8955; 1573-2665
  • Della Marina, A.; Abicht, A.; Schara, Ulrike
    Congenital myasthenic syndromes
    In: Nervenheilkunde Jg. 30 (2011) Nr. 10, S. 797 - 804
    ISSN: 0722-1541; 0722-1541
  • 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
    ISSN: 0960-8966
  • 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
    ISSN: 0960-8966
  • 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
    ISSN: 0960-8966; 1873-2364
  • Della Marina, A.; Abicht, A.; Schara, Ulrike
    Kongenitale myasthene Syndrome
    In: Nervenheilkunde Jg. 30 (2011) Nr. 10, S. 797 - 804
    ISSN: 0722-1541
  • Gaul, Charly; Kraya, T.; Holle, Dagny; Benkel-Herrenbrück, I.; Schara, Ulrike; Ebinger, F.
    Migränevarianten und ungewöhnliche Manifestationen der Migräne im Kindesalter
    In: Schmerz Jg. 25 (2011) Nr. 2, S. 148 - 156
    ISSN: 0932-433X
  • 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
    ISSN: 0003-9942; 1538-3687
  • 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
    ISSN: 0006-8950; 1460-2156
  • 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 für Kinderheilkunde Jg. 158 (2010) Nr. 1, S. 54 - 56
    ISSN: 1433-0474; 0026-9298
  • 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
    ISSN: 0883-0738; 1708-8283; 1702-6075; 1708-8828
  • 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
    ISSN: 1090-3798; 1532-2130
  • 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
    ISSN: 0300-8630; 1439-3824
  • 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
    ISSN: 1474-4422
  • 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
    ISSN: 0960-8966
  • 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
    ISSN: 0960-8966
  • 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
    ISSN: 0936-5931
  • 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
    ISSN: 0006-8950; 1460-2156
  • 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
    ISSN: 0300-8630
  • 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
    ISSN: 1128-2460
  • 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
    ISSN: 1090-3798
  • Schara, Ulrike; Lochmüller, Hanns
    Therapeutic strategies in congenital myasthenic syndromes
    In: Neurotherapeutics Jg. 5 (2008) Nr. 4, S. 542 - 547
    ISSN: 1933-7213
  • 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
    ISSN: 0028-3878; 1526-632X
  • 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
    ISSN: 0006-8950; 1460-2156
  • Vorworte / Nachworte

  • 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
    ISSN: 1090-3798; 1532-2130
  • Abstracts

  • 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
    ISSN: 1531-8249; 0364-5134
  • Preusse, C.; Marteau, T.; Fischer, N.; Hentschel, A.; Lang, S.; Dittmayer, C.; Schneider, U.; Schara-Schmidt, Ulrike; Allenbach, Y.; Benveniste, O.; Goebel, H.; Stenzel, W.; Roos, A.;
    26th International Congress of the World Muscle Society; 20th– 24th September 2021 (Hrsg.)
    EP.12 ER-stress and UPR-activation in immune-mediated necrotizing myopathy
    In: Neuromuscular Disorders Jg. 31 (2021) Nr. Supplement 1, S. S53
    ISSN: 0960-8966; 1873-2364
  • Gangfuß, Andrea; Czech, A.; Hentschel, A.; Münchberg, U.; Horvath, R.; Töpf, A.; O'Heir, E.; Lochmüller, H.; Stehling, Florian; Kiewert, C.; Sickmann, A.; Küchler, Alma; Frank, K.; Kölbel, H.; Christiansen, J.; Schara-Schmidt, Ulrike; Roos, Andreas;
    EP.305 Homozygous WASHC4 variant in two sisters causes a syndromic phenotype with skeletal muscle involvement
    26th International Congress of the World Muscle Society; 20th– 24th September 2021,
    In: Neuromuscular Disorders Jg. 31 (2021) S. S143
    ISSN: 0960-8966; 1873-2364
  • Preuße, C.; Ruck, T.; Cengiz, D.; von Moers, A.; Hentschel, A.; Lochmüller, H.; Schara-Schmidt, Ulrike; Sickmann, A.; Gangfuß, Andrea; Förster, A.; Meuth, S.; Goebel, H.-H.; Stenzel, W.; Roos, Andreas;
    Expression of Periostin in DMD patients and mdx mice
    26th International Congress of the World Muscle Society; 20th– 24th September 2021,
    In: Neuromuscular Disorders Jg. 31 (2021) Nr. Supplement 1, S. S96
    ISSN: 0960-8966; 1873-2364
  • 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
    ISSN: 0960-8966; 1873-2364
  • 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
    ISSN: 0960-8966; 1873-2364
  • 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
    ISSN: 0960-8966; 1873-2364
  • 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
    ISSN: 0960-8966; 1873-2364
  • 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
    ISSN: 0003-9888; 1468-2044
  • 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
    ISSN: 0960-8966
  • 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
    ISSN: 0960-8966
  • 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
    ISSN: 0960-8966
  • 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
    ISSN: 0960-8966
  • 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
    ISSN: 0960-8966
  • 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
    ISSN: 0960-8966
  • 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
    ISSN: 0960-8966
  • 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
    ISSN: 0960-8966
  • 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
    ISSN: 0960-8966; 1873-2364
  • Chaouch, A.; Müller, J. S.; Guergueltcheva, V.; Dusl, M.; Schara, Ulrike; Rakocević-Stojanović, V.; Lindberg, C.; Scola, R. H.; Werneck, L. C.; Colomer, J.; Nascimento, A.; Vilchez, J. J.; Muelas, N.; Argov, Z.; Abicht, A.; Lochmüller, Hanns
    A retrospective clinical study of the treatment of slow-channel congenital myasthenic syndrome
    In: Neuromuscular Disorders / UK Neuromuscular Translational Research Conference ; 22nd – 23rd March 2012, Newcastle upon Tyne, UK Jg. 22 (2012) Nr. Supplement 1, S. S16 - S17
    ISSN: 0960-8966; 1873-2364
  • Lutz, Sabine; Trippe, H.; Shamdeen, G.M.; Schara, Ulrike; Della Marina, A.
    Myasthenia gravis in young children and adolescents : Clinical symptoms and treatment options
    In: Neuromuscular Disorders / 17th International Congress of The World Muscle Society Jg. 22 (2012) S. 856
    ISSN: 0960-8966
  • Stehling, Florian; Schara, Ulrike; Munteanu, M.; Heller, R.; Vincent, A.; Mellies, Uwe; Schneider-Gold, C.; Trippe, H.
    Myasthenic symptoms : From initial presentation to diagnosis
    In: Neuromuscular Disorders / 17th International Congress of The World Muscle Society Jg. 22 (2012) Nr. 9-10, S. 856
    ISSN: 0960-8966
  • Bonnemann, C.G.; Foley, A.R.; Vandyke, R.; Fenchel, M.; Rutkowski, A.; Volker, S.; McCallum, M.; Muntoni, F.; Schara, Ulrike; Sawnani, H.; Amin, R.; Collins, J.; Stehling, Florian; Deconinck, N.
    Percent predicted forced vital capacity is a viable outcome measure in Laminin alpha 2 – Deficient congenital muscular dystrophy
    In: Neuromuscular Disorders / 17th International Congress of The World Muscle Society Jg. 22 (2012) Nr. 9-10, S. 893 - 894
    ISSN: 0960-8966
  • Hochsmann, Britta; Dohna-Schwake, Christian; Rojewski, M.; Schwarz, Klaus; Pannicke, Ulrich; Schara, Ulrike; Wieland, Regina; Schrezenmeier, H.
    Isolated CD59 deficiency mimicking paroxysmal nocturnal hemoglobinuria (PNH) - flow cytometric detection and genetic characterization
    In: Onkologie / Deutsche, Österreichische und Schweizerische Gesellschaften für Hämatologie und Onkologie Jahrestagung, Berlin, Oktober 2010 Jg. 33 (2010) Nr. Suppl. 6, S. 112 - 113
    ISSN: 0378-584X; 1423-0240
  • Okorn, C. O.; Gewert, A. G.; Schwiertz, R. S.; Della Marina, ADM; Schara, Ulrike; Dohna-Schwake, CDS; Vester, Udo; Hoyer, Peter Friedrich
    Exercise-induced acute renal failure due to carnitine palmitoyltransferase II deficiency
    In: Pediatric Nephrology Jg. 24 (2009) Nr. 4, S. 918 - 919
    ISSN: 0931-041X
  • 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
    ISSN: 0009-7322; 1524-4539
  • 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
    ISSN: 0028-3878; 1526-632X
  • 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
    ISSN: 0028-3878; 1526-632X
  • 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
    ISSN: 0340-5354
  • 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
    ISSN: 0960-8966
  • 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
    ISSN: 0960-8966
  • 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
    ISSN: 0960-8966
  • 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
    ISSN: 0960-8966
  • 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
    ISSN: 0028-3878; 1526-632X
  • 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
    ISSN: 1085-9489; 1529-8027
  • 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
    ISSN: 0960-8966
  • 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
    ISBN: 978-1-0716-0731-2; 978-1-0716-0732-9
  • 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
    ISBN: 0-12-801149-1; 978-0-12-801149-2; 0-12-800877-6; 978-0-12-800877-5
  • Bücher/Sammelwerke/Tagungsbände

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

  • 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
    P.82 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
    ISSN: 0960-8966
  • 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)