부산대학교 도서관

Evangelista, T; Ali, H; Handberg, C; Sejersen, T; Quinlivan, R; Moroni, I; Masingue, M; Quijano-Roy, S; Atalaia, A; Schara-Schmidt, U

ORPHANET JOURNAL OF RARE DISEASES. 21(1)

Berthele, A.; Aktas, O.; Ayzenberg, I.; Claus, H.; Lâm, T.-T.; Löscher, W. N.; Lünemann, J. D.; Pröbstel, A. K.; Prüß, H.; Rademacher, N.; Ringelstein, M.; Rommer, P. S.; Schara-Schmidt, U.; Schoser, B.; Weber, J. R.; Zschüntzsch, J.; Meisel, A.

DGNeurologie: Zeitschrift der Deutschen Gesellschaft für Neurologie. 8(5):398-407

Landfeldt, E; Zhang, R; Childs, A-M; Johannsen, J; O'Rourke, D; Sejersen, T; Strautmanis, J; Schara-Schmidt, U; Tulinius, M; Walter, MC

JOURNAL OF MEDICAL ECONOMICS. 25(1):808-816

Schäffer, E.; Schara-Schmidt, U.; Schnieder, M.

DGNeurologie: Zeitschrift der Deutschen Gesellschaft für Neurologie. 8(2):120-128

Schara-Schmidt, U.; Ziegler, A.

DGNeurologie: Zeitschrift der Deutschen Gesellschaft für Neurologie. :1-3

D'Amico, A. ; Baets, J. ; Baumann, M. ; van der Beek, N. ; De Bleecker, J. ; Bruijnes, A. ; Claeys, K. ; Bruno, C. ; Dambrauskiene, M. ; D'Errico, E. ; Filosto, M. ; Gosk-Tomek, M. ; Herdewyn, S. ; Kornblum, C. ; Kostera-Pruszczyk, A. ; Maggi, L. ; Manganelli, F. ; Mueller-Felber, W. ; Munell, F. ; Nadaj-Pakleza, A. ; Nascimento, A. ; Olive, M. ; Ørstavik, K. ; Palmio, J. ; Pegoraro, E. ; Peterlin, B. ; van der Ploeg, A.T. ; Quijano-Roy, S. ; Remiche, G. ; Ricci, G. ; Rohlenová, M. ; Rosenbohm, A. ; Sacconi, S. ; Sansone, V. ; Santos, M. ; Schara-Schmidt, U. ; Servidei, S. ; Siciliano, G. ; Soler, D. ; Stojkovic, T. ; Vali, L. ; Verschuuren, J. ; Viktorija, K. ; Wadman, R.I. ; Walter, M.C. ; Weiss, C. ; Zamba-Papanicolaou, E. ; Zambon, A. ; Kruse, M.T.A. ; Olde Dubbelink, B.A.S. ; Kroneman, M. ; de Groot, I. ; Schlüter, S. ; de Visser, M. ; Evangelista, T. ; Moretti, A. ; Weber, D. ; Ward, L.M. ; Voermans, N.C.

In Journal of the Neurological Sciences 15 May 2025 472

Leo M; Department of Neurology, Center for Translational Neuro- and Behavioural Sciences (C-TNBS), University Medicine Essen, Essen, Germany.; Schmitt LI; Department of Neurology, Center for Translational Neuro- and Behavioural Sciences (C-TNBS), University Medicine Essen, Essen, Germany.; Liebig KC; Department of Neurology, Center for Translational Neuro- and Behavioural Sciences (C-TNBS), University Medicine Essen, Essen, Germany.; Hezel S; Department of Neurology, Center for Translational Neuro- and Behavioural Sciences (C-TNBS), University Medicine Essen, Essen, Germany.; Neuhoff S; Department of Neurology, Center for Translational Neuro- and Behavioural Sciences (C-TNBS), University Medicine Essen, Essen, Germany.; Roos A; Department of Pediatrics I, Division of Neuropediatrics, Center for Translational Neuro- and Behavioural Sciences (C-TNBS), University Medicine Essen, Essen, Germany.; Kleinschnitz C; Department of Neurology, Center for Translational Neuro- and Behavioural Sciences (C-TNBS), University Medicine Essen, Essen, Germany.; Weiler M; Department of Neurology, Heidelberg University Hospital, Heidelberg, Germany.; Günther R; Department of Neurology, University Hospital Carl Gustav Carus Dresden, Dresden, Germany.; German Center for Neurodegenerative Diseases (DZNE) Dresden, Dresden, Germany.; Schara-Schmidt U; Department of Pediatrics I, Division of Neuropediatrics, Center for Translational Neuro- and Behavioural Sciences (C-TNBS), University Medicine Essen, Essen, Germany.; Claus P; Department for Psychiatry, Social Psychiatry and Psychotherapy, Laboratory for Molecular Neurosciences, Hannover Medical School (MHH), Hannover, Germany.; Center for Systems Neuroscience (ZSN), Hannover, Germany.; Hagenacker T; Department of Neurology, Center for Translational Neuro- and Behavioural Sciences (C-TNBS), University Medicine Essen, Essen, Germany.

Publisher: SAGE Publications Country of Publication: United States NLM ID: 101649948 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2214-3602 (Electronic) Linking ISSN: 22143599 NLM ISO Abbreviation: J Neuromuscul Dis Subsets: MEDLINE

Mendell JR; Center for Gene Therapy, Nationwide Children's Hospital, Columbus, OH, USA. JMendell@sarepta.com.; Sarepta Therapeutics, Inc, Cambridge, MA, USA. JMendell@sarepta.com.; Muntoni F; Dubowitz Neuromuscular Centre, NIHR Great Ormond Street Hospital Biomedical Research Centre, Great Ormond Street Institute of Child Health and Institute of Neurology, University College London, & Great Ormond Street Hospital Trust, London, UK.; McDonald CM; UC Davis Health, Sacramento, CA, USA.; Mercuri EM; Pediatric Neurology Institute, Catholic University and Nemo Pediatrico, Fondazione Policlinico Gemelli IRCCS, Rome, Italy.; Ciafaloni E; University of Rochester Medical Center, Rochester, NY, USA.; Komaki H; Translational Medical Center, National Center of Neurology and Psychiatry, Kodaira, Tokyo, Japan.; Leon-Astudillo C; Department of Pediatrics, University of Florida, Gainesville, FL, USA.; Nascimento A; Neuromuscular Unit, Neuropaediatrics Department, Hospital Sant Joan de Déu, Fundacion Sant Joan de Déu, CIBERER - ISC III, Barcelona, Spain.; Proud C; Children's Hospital of the King's Daughters, Norfolk, VA, USA.; Schara-Schmidt U; Department of Pediatric Neurology, Center for Neuromuscular Disorders in Children and Adolescents, University Clinic Essen, University of Duisburg-Essen, Essen, Germany.; Veerapandiyan A; Department of Pediatrics, Division of Neurology, University of Arkansas for Medical Sciences, Arkansas Children's Hospital, Little Rock, AR, USA.; Zaidman CM; Department of Neurology, Washington University in St Louis, St Louis, MO, USA.; Furgerson M; Sarepta Therapeutics, Inc, Cambridge, MA, USA.; Ding K; Sarepta Therapeutics, Inc, Cambridge, MA, USA.; Singh P; Sarepta Therapeutics, Inc, Cambridge, MA, USA.; Potter R; Sarepta Therapeutics, Inc, Cambridge, MA, USA.; Asher DR; Sarepta Therapeutics, Inc, Cambridge, MA, USA.; Murphy AP; Roche Products Ltd, Welwyn Garden City, UK.; Reid C; Roche Products Ltd, Welwyn Garden City, UK.; Hooper G; Roche Products Ltd, Welwyn Garden City, UK.; Torre CO; Roche Products Ltd, Welwyn Garden City, UK.; Manfrini M; F. Hoffmann-La Roche Ltd, Basel, Switzerland.; Rodino-Klapac LR; Sarepta Therapeutics, Inc, Cambridge, MA, USA.

Publisher: Springer Country of Publication: New Zealand NLM ID: 101637818 Publication Model: Print-Electronic Cited Medium: Print ISSN: 2193-8253 (Print) Linking ISSN: 21936536 NLM ISO Abbreviation: Neurol Ther

Nguyen CDL; Jimenez-Moreno AC; Merker M; Bowers CJ; Nikolenko N; Hentschel A; Muntefering T; Isham A; Ruck T; Vorgerd M; Dobelmann V; Gourdon G; Schara-Schmidt U; Gangfuss A; Schroder C; Sickmann A; Gross C; Gorman G; Stenzel W; Kollipara L; Hathazi D; Spendiff S; Gagnon C; Preusse C; Duchesne E; Lochmuller H; Roos A

Journal of Neurology. 270:3138-3158

Weiß C; Department of Pediatric Neurology, Charité-Universitätsmedizin Berlin, Augustenburger Platz 1, 13353 Berlin, Germany.; Vill K; Department of Paediatric Neurology and Developmental Medicine, Ludwig Maximilian University of Munich (LMU), Hauner Children's Hospital, Munich, Germany.; Baumann M; Division of Pediatric Neurology, Department of Pediatrics I, Medical University of Innsbruck, Innsbruck, Austria.; Bernert G; Department of Pediatrics, Klinik Favoriten, Vienna, Austria.; Blaschek A; Department of Paediatric Neurology and Developmental Medicine, Ludwig Maximilian University of Munich (LMU), Hauner Children's Hospital, Munich, Germany.; Eisenkölbl A; Department of Paediatrics and Adolescent Medicine, Johannes Kepler University Linz, Kepler University Hospital, 4020 Linz, Austria.; Flotats-Bastardas M; Department of General Pediatrics and Neonatology, Division of Neuropediatrics, Saarland University, Homburg Saar, Germany.; Friese J; Department of Child Neurology, University Hospital Bonn, Bonn, Germany.; Ganter C; Medical Faculty Heidelberg, INTEGRATE ATMP Project, Heidelberg University, Heidelberg, Germany.; Goldhahn K; Department of Pediatrics and Neuropediatrics, DRK Klinikum Westend, Berlin, Germany.; Hahn A; Department of Child Neurology, University Hospital Gießen, Gießen, Germany.; von der Hagen M; Department of Neuropediatrics, Medizinische Fakultät Carl Gustav Carus, Technische Universität Dresden, Dresden, Germany.; Hartmann H; Clinic for Pediatric Kidney-, Liver-, Metabolic and Neurological Diseases, Hannover Medical School, Hannover, Germany.; Hasselmann O; Department of Pediatric Neurology, Children's hospital Ostschweiz, St. Gallen, Switzerland.; Horber V; Department of Paediatric Neurology, University Children's Hospital, Tübingen, Germany.; Husain RA; Department of Neuropediatrics, Jena University Hospital, Jena, Germany.; Illsinger S; Clinic for Pediatric Kidney-, Liver-, Metabolic and Neurological Diseases, Hannover Medical School, Hannover, Germany.; Jacquier D; Pediatric Neurology and Neurorehabilitation unit, Woman-Mother-Child Department, Lausanne University Hospital, Lausanne, Switzerland.; Johannsen J; Department of Pediatrics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.; Köhler C; Children's Hospital St Josef, University Hospital Ruhr-University Bochum, Bochum, Germany.; Kölbel H; Department of Pediatric Neurology, Centre for Neuromuscular Disorders, Center for Translational Neuro and Behavioral Sciences, University Duisburg-Essen, Essen, Germany.; Kolodzig M; Deutsche Muskelstiftung, Karlsruhe, Germany.; Klein A; Division of Neuropaediatrics, Development and Rehabilitation, Department of Paediatrics, Inselspital, Bern University Hospital, University of Bern, Bern, Switzerland.; Pechmann A; Department of Neuropediatrics and Muscle Disorders, Medical Center - University of Freiburg, Faculty of Medicine, University of Freiburg, Freiburg, Germany.; von Moers A; Department of Pediatrics and Neuropediatrics, DRK Klinikum Westend, Berlin, Germany.; Müller-Felber W; Department of Paediatric Neurology and Developmental Medicine, Ludwig Maximilian University of Munich (LMU), Hauner Children's Hospital, Munich, Germany.; Rauscher C; Department of Pediatrics, Paracelsus Medical University, Salzburg, Austria.; Schara-Schmidt U; Department of Pediatric Neurology, Centre for Neuromuscular Disorders, Center for Translational Neuro and Behavioral Sciences, University Duisburg-Essen, Essen, Germany.; Schreiber G; Department of Pediatric Neurology, Klinikum Kassel, Kassel, Germany.; Schwartz O; Department of Pediatric Neurology, Muenster University Hospital, Münster, Germany.; Sproß J; German Society for Neuromuscular Diseases e.V. (DGM), Freiburg, Germany.; Stettner GM; Neuromuscular Center Zürich and Department of Pediatric Neurology, University Children's Hospital, University of Zurich, Zürich, Switzerland.; Stoltenburg C; Department of Pediatric Neurology, Charité-Universitätsmedizin Berlin, Augustenburger Platz 1, 13353 Berlin, Germany.; Stumpe E; SMA Europe e. V., Freiburg, Germany.; Trollmann R; Department of Pediatrics, Division of Pediatric Neurology, Friedrich-Alexander University of Erlangen-Nürnberg, Erlangen, Germany.; Wiegand G; Department of Pediatrics, Division of Neuropediatrics, Asklepios Klinik Hamburg Nord-Heidberg, Hamburg, Germany.; Wilichowski E; Department of Pediatrics and Adolescent Medicine, University Medical Center Göttingen, Göttingen, Germany.; Kirschner J; Department of Neuropediatrics and Muscle Disorders, Medical Center - University of Freiburg, Faculty of Medicine, University of Freiburg, Freiburg, Germany.; Ziegler A; Medical Faculty Heidelberg, Center for Pediatric and Adolescent Medicine, Department I, Division of Pediatric Neurology and Metabolic Medicine, Heidelberg University, Heidelberg, Germany.

Publisher: SAGE Publications Country of Publication: United States NLM ID: 101649948 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2214-3602 (Electronic) Linking ISSN: 22143599 NLM ISO Abbreviation: J Neuromuscul Dis Subsets: MEDLINE

Becker B; Department of Neurology, Klinikum rechts der Isar, Technical University of Munich, School of Medicine and Health, Munich, Germany.; Cordts I; Department of Neurology, Klinikum rechts der Isar, Technical University of Munich, School of Medicine and Health, Munich, Germany.; Becker J; Institute of Human Genetics, Center for Molecular Medicine, and Center for Rare Diseases and Institute for Genetics, University Hospital of Cologne, University of Cologne, Cologne, Germany.; Günther R; Department of Neurology, University Hospital Carl Gustav Carus, Technical University of Dresden, Dresden, Germany.; Baumann M; Department of Pediatrics I, Division of Pediatric Neurology, Medical University of Innsbruck, Innsbruck, Austria.; Bernert G; Department of Pediatrics, Clinic Favoriten, Vienna, Austria.; Eisenkölbl A; Department of Paediatrics and Adolescent Medicine, Johannes Kepler University Linz, Kepler University Hospital, Linz, Austria.; Fiedler B; Department of Neuropediatrics, University Children's Hospital, Münster, Germany.; Flotats-Bastardas M; Department of General Pediatrics and Neonatology, Division of Neuropediatrics, Saarland University, Homburg Saar, Germany.; Fleger M; Department of Pediatrics, Bregenz Regional Hospital, Bregenz, Austria.; Hagenacker T; Department of Neurology, and Center for Translational Neuro- and Behavioral Sciences (C-TNBS), University Medicine Essen, Essen, Germany.; Hahn A; Department of Child Neurology, Justus-Liebig University, Giessen, Germany.; Hobbiebrunken E; Department of Pediatrics and Adolescent Medicine, Division of Pediatric Neurology, University Medical Center Göttingen, Georg August University, Göttingen, Germany.; Bevot A; Department of Paediatric Neurology, University Children's Hospital, Tübingen, Germany.; Jahnel J; Division of General Pediatrics, Department of Pediatrics and Adolescent Medicine, LKH Klagenfurt, Medical University of Graz, Graz, Austria.; Johannsen J; Department of Pediatrics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.; Kamm C; Department of Neurology, University of Rostock, Rostock, Germany.; Koch JC; Department of Neurology, University Medical Center Göttingen, Göttingen, Germany.; Köhler C; Ruhr University Bochum, St Josef-Hospital, Department for Neuropediatrics, University Medical Center for Pediatrics and Adolescent Medicine, Bochum, Germany.; Kölbel H; Department of Neuropediatrics and Neuromuscular Centre for Children and Adolescents, Center for Translational Neuro- and Behavioral Sciences, University of Duisburg-Essen, Essen, Germany.; Müller-Felber W; Department of Neuropediatrics, UMC, LMU Munich, Munich, Germany.; Neuwirth C; Neuromuscular Diseases Unit / ALS Clinic, Cantonal Hospital St Gallen, St. Gallen, Switzerland.; Plecko B; Department of Pediatrics and Adolescent Medicine, Division of General Pediatrics, Medical University of Graz, Graz, Austria.; Stadler C; Department of Neurology, Klinikum Klagenfurt am Wörthersee, Klagenfurt am Wörthersee, Austria.; Smitka M; Department of Neuropediatrics, UMC Carl Gustav Carus, Technical University of Dresden, Dresden, Germany.; Von Moers A; Department of Pediatrics and Neuropediatrics, DRK Klinikum Westend, Berlin, Germany.; Trollmann R; Department of Pediatrics, Division of Pediatric Neurology, Friedrich-Alexander-University of Erlangen-Nürnberg, Erlangen, Germany.; Weiler M; Department of Neurology, Heidelberg University Hospital, Heidelberg, Germany.; Ziegler A; Department of Neuropediatrics and Metabolic Medicine, University Hospital Heidelberg, Heidelberg, Germany.; Goldbach S; Deutsche Gesellschaft für Muskelkranke, Freiburg, Germany.; Probst-Schendzielorz K; Deutsche Gesellschaft für Muskelkranke, Freiburg, Germany.; Lochmüller H; Children's Hospital of Eastern Ontario Research Institute, Division of Neurology, Department of Medicine, The Ottawa Hospital and Brain and Mind Research Institute, University of Ottawa, Ottawa, Ontario, Canada.; Department of Neuropediatrics and Muscle Disorders, Medical Center - University of Freiburg, Faculty of Medicine, University of Freiburg, Freiburg, Germany.; Schara-Schmidt U; Department of Neuropediatrics and Neuromuscular Centre for Children and Adolescents, Center for Translational Neuro- and Behavioral Sciences, University of Duisburg-Essen, Essen, Germany.; Walter MC; Friedrich-Baur-Institute, Department of Neurology, Ludwig-Maximilians-University of Munich, Munich, Germany.; Kirschner J; Department of Neuropediatrics and Muscle Disorders, Medical Center - University of Freiburg, Faculty of Medicine, University of Freiburg, Freiburg, Germany.; Wirth B; Institute of Human Genetics, Center for Molecular Medicine, and Center for Rare Diseases and Institute for Genetics, University Hospital of Cologne, University of Cologne, Cologne, Germany.; Pechmann A; Department of Neuropediatrics and Muscle Disorders, Medical Center - University of Freiburg, Faculty of Medicine, University of Freiburg, Freiburg, Germany.; Deschauer M; Department of Neurology, Klinikum rechts der Isar, Technical University of Munich, School of Medicine and Health, Munich, Germany.

Publisher: SAGE Publications Country of Publication: United States NLM ID: 101649948 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2214-3602 (Electronic) Linking ISSN: 22143599 NLM ISO Abbreviation: J Neuromuscul Dis Subsets: MEDLINE

Della Marina, A.; Koutsoulidou, A.; Natera de Benito, D.; Tykocinski, L.; Tomazou, M.; Georgiou, K.; Kölbel, H.; Nascimento, A.; Ortez, C.; Lochmüller, H.; Phylactou, L.; Ruck, T.; Abicht, A.; Schara-Schmidt, U.; Kale, D.; Hentschel, A.; Roos, A.

Neuromuscular Disorders. 43

Ramdas, S.; Ramjattan, H.; Hennehan, L.; Natera De Benito, D.; Nascimiento, A.; Della Marina, A.; Schara-Schmidt, U.; Munot, P.; Simmons, E.; Maggi, L.; Gallone, A.; Nadaj Pakleza, A.; Chanson, J.; Marini-Bettolo, C.; Moat, D.; Paz Guerrero-Molina, M.; Dominguez-González, C.; Jungbluth, H.; Sheehan, J.; Palace, J.

Neuromuscular Disorders. 43

Dobelmann, V.; Roos, A.; Hentschel, A.; Della Marina, A.; Leo, M.; Schmitt, L.; Maggi, L.; Schara-Schmidt, U.; Hagenacker, T.; Ruck, T.; Koelbel, H.

Neuromuscular Disorders. 43

Kölbel, H.; Dobelman, V.; van Haute, L.; Lancene, E.; Kollipara, L.; Della Marina, A.; Horvath, R.; Schara-Schmidt, U.; Ruck, T.; Schoser, B.; Evangelista, T.; Roos, A.

Neuromuscular Disorders. 43

Roos, A.; Schmitt, L.; Hansmann, C.; Hezel, S.; Salmanian, S.; Hentschel, A.; Meyer, N.; Della Marina, A.; Kölbel, H.; Kleinschnitz, C.; Schara-Schmidt, U.; Leo, M.; Hagenacker, T.

Neuromuscular Disorders. 43

Della Marina, A.; Bertolini, A.; Wegener-Panzer, A.; Flotats-Bastardas, M.; Reinhardt, T.; El Naggar, I.; Distelmaier, F.; Blaschek, A.; Schara-Schmidt, U.; Brunet, T.; Wagner, M.; Smirnov, D.; Prokisch, H.; Wortmann, S.B.; Rostasy, K.

European Journal of Paediatric Neurology, 41, pp. 27-35
Eur. J. Paediatr. Neurol. 41, 27-35 (2022)

Roos, A.; Dobelmann, V.; Hentschel, A.; Hagenacker, T.; Derksen, A.; Osmanovic, A.; Evangelista, T.; Gangfuss, A.; Kaiser, F.; Schara-Schmidt, U.; Ruck, T.; Savarese, M.; Lochmüller, H.

Neuromuscular Disorders. 43

Mendell, J.; Muntoni, F.; McDonald, C.; Mercuri, E.; Ciafaloni, E.; Komaki, H.; Leon-Astudillo, C.; Nascimento, A.; Proud, C.; Schara-Schmidt, U.; Veerapandiyan, A.; Zaidman, C.; Murphy, A.; Reid, C.; Asher, D.; Darton, E.; Mason, S.; Fontoura, P.; Elkins, J.; Rodino-Klapac, L.

Neuromuscular Disorders. 43

Jacob M; Institute of Human Genetics, School of Medicine and Health, Technical University of Munich, Munich 81675, Germany.; Kölbel H; Department of Neuropediatrics and Neuromuscular Centre for Children and Adolescents, Center for Translational Neuro- and Behavioral Sciences, University Hospital Essen, Duisburg-Essen University, Essen 45147, Germany.; Harrer P; Institute of Human Genetics, School of Medicine and Health, Technical University of Munich, Munich 81675, Germany.; Institute of Neurogenomics, Helmholtz Zentrum Munich, Neuherberg 85764, Germany.; Kopajtich R; Institute of Human Genetics, School of Medicine and Health, Technical University of Munich, Munich 81675, Germany.; Institute of Neurogenomics, Helmholtz Zentrum Munich, Neuherberg 85764, Germany.; Munot P; Dubowitz Neuromuscular Centre, Great Ormond Street Hospital, London WC1N 3JH, UK.; Achleitner MT; University Children's Hospital, Salzburger Landeskliniken (SALK) and Paracelsus Medical University (PMU), Salzburg 5020, Austria.; Badmann S; Institute of Human Genetics, School of Medicine and Health, Technical University of Munich, Munich 81675, Germany.; Brugger M; Institute of Human Genetics, School of Medicine and Health, Technical University of Munich, Munich 81675, Germany.; Brunet T; Institute of Human Genetics, School of Medicine and Health, Technical University of Munich, Munich 81675, Germany.; Bonne G; Sorbonne Université, Inserm, Institut de Myologie, Centre de Recherche en Myologie, Paris 75013, France.; Codina M; Clinical and Molecular Genetics Area, Vall D'Hebron Hospital Medicine Genetics Group, Vall D'Hebron Research Institute (VHIR), Barcelona 08035, Spain.; Ebner L; University Children's Hospital, Salzburger Landeskliniken (SALK) and Paracelsus Medical University (PMU), Salzburg 5020, Austria.; Eshraghi P; Clinical Research Development Unit of Akbar Hospital, Faculty of Medicine, Mashhad University of Medical Sciences, Mashhad 9177949025, Iran.; Eyring K; Institute of Human Genetics, School of Medicine and Health, Technical University of Munich, Munich 81675, Germany.; Farhat AS; Neonatal Research Center, Mashhad University of Medical Sciences, Mashhad 9177949025, Iran.; Feichtinger RG; University Children's Hospital, Salzburger Landeskliniken (SALK) and Paracelsus Medical University (PMU), Salzburg 5020, Austria.; Graf E; Institute of Human Genetics, School of Medicine and Health, Technical University of Munich, Munich 81675, Germany.; Marcé-Grau A; Department of Pediatric Neurology, Vall D'Hebron University Hospital, Vall D'Hebron Hospital Campus, Barcelona 08035, Spain.; Hahn A; Department of Neonatology, Justus-Liebig-University Giessen, Giessen 35390, Germany.; Department of Child Neurology, Justus-Liebig-University Giessen, Giessen 35390, Germany.; Houlden H; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London WC1N 3BG, UK.; Karimiani EG; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London WC1N 3BG, UK.; Manel V; Service de Médecine Physique et Réadaptation Pédiatrique, L'Escale, Hôpital Femme-Mère-Enfant, Hospices Civils de Lyon, Groupement Est, Bron 69500, France.; Mayerhanser K; Institute of Human Genetics, School of Medicine and Health, Technical University of Munich, Munich 81675, Germany.; Nectoux J; Service de Médecine Physique et Réadaptation Pédiatrique, L'Escale, Hôpital Femme-Mère-Enfant, Hospices Civils de Lyon, Groupement Est, Bron 69500, France.; Nelson I; Sorbonne Université, Inserm, Institut de Myologie, Centre de Recherche en Myologie, Paris 75013, France.; Phadke R; Dubowitz Neuromuscular Centre, Great Ormond Street Hospital, London WC1N 3JH, UK.; Prokisch H; Institute of Human Genetics, School of Medicine and Health, Technical University of Munich, Munich 81675, Germany.; Institute of Neurogenomics, Helmholtz Zentrum Munich, Neuherberg 85764, Germany.; Sadeghian S; Department of Pediatric Neurology, Golestan Medical, Educational, and Research Center, Ahvaz Jundishapur University of Medical Sciences, Ahvaz 6135715753, Iran.; Saparov A; Institute of Human Genetics, School of Medicine and Health, Technical University of Munich, Munich 81675, Germany.; Institute of Neurogenomics, Helmholtz Zentrum Munich, Neuherberg 85764, Germany.; Helmholtz Association, Munich School for Data Science (MUDS), Helmholtz Zentrum Munich, Munich 85764, Germany.; Schänzer A; Institute of Neuropathology, Justus Liebig University Giessen, Giessen 35392, Germany.; Schara-Schmidt U; Department of Neuropediatrics and Neuromuscular Centre for Children and Adolescents, Center for Translational Neuro- and Behavioral Sciences, University Hospital Essen, Duisburg-Essen University, Essen 45147, Germany.; Schmidt J; Institute of Human Genetics, University Medical Center Göttingen, Göttingen 37073, Germany.; Schuler R; Department of Neonatology, Justus-Liebig-University Giessen, Giessen 35390, Germany.; Department of Child Neurology, Justus-Liebig-University Giessen, Giessen 35390, Germany.; Sewry C; Cellular Pathology, Salford Royal Hospital NHS Foundation Trust, Northern Care Alliance, Manchester M6 8HD, UK.; Wolfson Centre for Neuromuscular Disorders, Robert Jones and Agnes Hunt Orthopaedic Hospital, Oswestry SY10 7AG, UK.; Shariati G; Narges Medical Genetics and Prenatal Diagnosis Laboratory, Kianpars, Ahvaz 61556-89467, Iran.; Department of Medical Genetics, Faculty of Medicine, Ahvaz Jundishapur University of Medical Sciences, Ahvaz 6135715753, Iran.; Slanz S; Institute of Human Genetics, School of Medicine and Health, Technical University of Munich, Munich 81675, Germany.; Smirnov D; Institute of Human Genetics, School of Medicine and Health, Technical University of Munich, Munich 81675, Germany.; Institute of Neurogenomics, Helmholtz Zentrum Munich, Neuherberg 85764, Germany.; Sukenik-Halevy R; Genetic Institute, Meir Medical Center, Kfar Saba 4428164, Israel.; School of Medicine, Faculty of Medical and Health Sciences, Tel Aviv University, Tel Aviv 69978, Israel.; Tajsharghi H; Division of Biomedicine, School of Health Sciences, University of Skovde, Skovde 541 28, Sweden.; Toosi MB; Department of Pediatrics, School of Medicine, Mashhad University of Medical Sciences, Mashhad 9177949025, Iran.; Neuroscience Research Center, Mashhad University of Medical Sciences, Mashhad 9177948564, Iran.; Trujillano L; Clinical and Molecular Genetics Area, Vall D'Hebron Hospital Medicine Genetics Group, Vall D'Hebron Research Institute (VHIR), Barcelona 08035, Spain.; Weis J; Institute of Neuropathology, RWTH Aachen University Hospital, Aachen 52074, Germany.; Wilson LC; Department of Clinical Genetics, Great Ormond Street Hospital, London WC1N 3JH, UK.; Yaou RB; Sorbonne Université, Inserm, Institut de Myologie, Centre de Recherche en Myologie, Paris 75013, France.; Zamani M; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London WC1N 3BG, UK.; Narges Medical Genetics and Prenatal Diagnosis Laboratory, Kianpars, Ahvaz 61556-89467, Iran.; Zech M; Institute of Human Genetics, School of Medicine and Health, Technical University of Munich, Munich 81675, Germany.; Institute of Neurogenomics, Helmholtz Zentrum Munich, Neuherberg 85764, Germany.; Institute for Advanced Study, Technical University of Munich, Garching 85748, Germany.; Zschüntzsch J; Department of Neurology, University Medical Center, Göttingen 37075, Germany.; Kornak U; 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Publisher: Oxford University Press Country of Publication: England NLM ID: 0372537 Publication Model: Print Cited Medium: Internet ISSN: 1460-2156 (Electronic) Linking ISSN: 00068950 NLM ISO Abbreviation: Brain Subsets: MEDLINE