부산대학교 도서관

van Kleef ESB; Department of Neurology, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands.; Bouman K; Department of Neurology, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands.; Molenaar JPF; Department of Neurology, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands.; de Winter JM; Department of Physiology, Amsterdam UMC, Location VUmc, Amsterdam, The Netherlands.; Duijkers FAM; Department of Human Genetics, Amsterdam UMC, University of Amsterdam, The Netherlands.; Eftimov F; Department of Neurology and Neurophysiology, Amsterdam Neuroscience, Amsterdam UMC, Location AMC, Amsterdam, The Netherlands.; Verschuuren-Bemelmans CC; Department of Genetics, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands.; van der Laan T; Küsters B; Department of Pathology, Radboud University Medical Center, Nijmegen, The Netherlands.; Malfatti E; Univ Paris Est Créteil, INSERM, U955 IMRB, Créteil, France.; AP-HP, Hopital Mondor, Neuromuscular Reference Center, F-94010 Créteil, France.; Kamsteeg EJ; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.; van Engelen BGM; Department of Neurology, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands.; Ottenheijm CAC; Department of Physiology, Amsterdam UMC, Location VUmc, Amsterdam, The Netherlands.; Doorduin J; Department of Neurology, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands.; Voermans NC; Department of Neurology, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands.

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

van Kleef ESB; Department of Neurology, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands, esmee.vankleef@radboudumc.nl.; Poddighe D; KU Leuven, Department of Rehabilitation Sciences, Research Group for Rehabilitation in Internal Disorders, Leuven, Belgium.; Respiratory Rehabilitation and Respiratory Division, University Hospitals Leuven, Leuven, Belgium.; Caleffi Pereira M; KU Leuven, Department of Rehabilitation Sciences, Research Group for Rehabilitation in Internal Disorders, Leuven, Belgium.; Respiratory Rehabilitation and Respiratory Division, University Hospitals Leuven, Leuven, Belgium.; Pulmonary Division, Heart Institute (Incor), Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo, São Paulo, Brazil.; Schuurbiers ML; Department of Neurology, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands.; Groothuis JT; Department of Rehabilitation, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands.; Wijkstra PJ; Department of Pulmonary Diseases/Home Mechanical Ventilation, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands.; Groningen Research Institute for Asthma and COPD (GRIAC), University of Groningen, University Medical Center Groningen, Groningen, The Netherlands.; Voermans NC; Department of Neurology, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands.; Gosselink R; KU Leuven, Department of Rehabilitation Sciences, Research Group for Rehabilitation in Internal Disorders, Leuven, Belgium.; Respiratory Rehabilitation and Respiratory Division, University Hospitals Leuven, Leuven, Belgium.; Langer D; KU Leuven, Department of Rehabilitation Sciences, Research Group for Rehabilitation in Internal Disorders, Leuven, Belgium.; Respiratory Rehabilitation and Respiratory Division, University Hospitals Leuven, Leuven, Belgium.; Doorduin J; Department of Neurology, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands.; Department of Intensive Care, Radboud University Medical Center, Nijmegen, The Netherlands.

Publisher: Karger Country of Publication: Switzerland NLM ID: 0137356 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1423-0356 (Electronic) Linking ISSN: 00257931 NLM ISO Abbreviation: Respiration Subsets: MEDLINE

van Kleef ESB; Department of Neurology, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands.; Langer D; Faculty of Movement and Rehabilitation Sciences, Department of Rehabilitation Sciences, Research Group for Cardiovascular and Respiratory Rehabilitation, KU Leuven - University of Leuven, Leuven, Belgium.; Respiratory Rehabilitation and Respiratory Division, University Hospitals Leuven, Leuven, Belgium.; van Engelen BGM; Department of Neurology, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands.; Ottenheijm CAC; Department of Physiology, Amsterdam UMC (location VUmc), Amsterdam, The Netherlands.; Voermans NC; Department of Neurology, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands.; Doorduin J; Department of Neurology, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands.

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

van Kleef ESB; From the Department of Neurology (E.S.B.K., K.B., J.P.F.M., B.G.M.V.E., J.D., N.C.V.), Donders Institute for Brain, Cognition and Behaviour; Department of Pathology (B.K.); Department of Rehabilitation (J.T.G.), Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, the Netherlands; Neuromuscular Diseases Unit (M.O.), Department of Neurology, Hospital de La Santa Creu i Sant Pau; Biomedical Research Institute Sant Pau (IIB Sant Pau) Spain; Centro para la Investigación Biomédica en Red en Enfermedades Raras (CIBERER), Barcelona; Univ Paris Est Créteil (E.M.), INSERM, U955 IMRB; AP-HP, Hopital Mondor, Neuromuscular Reference Center, Créteil, France; Department of Human Genetics (E.-J.K.), Radboud University Medical Center; and Department of Physiology (C.A.C.O.), Amsterdam University Medical Centers, the Netherlands.; Bouman K; From the Department of Neurology (E.S.B.K., K.B., J.P.F.M., B.G.M.V.E., J.D., N.C.V.), Donders Institute for Brain, Cognition and Behaviour; Department of Pathology (B.K.); Department of Rehabilitation (J.T.G.), Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, the Netherlands; Neuromuscular Diseases Unit (M.O.), Department of Neurology, Hospital de La Santa Creu i Sant Pau; Biomedical Research Institute Sant Pau (IIB Sant Pau) Spain; Centro para la Investigación Biomédica en Red en Enfermedades Raras (CIBERER), Barcelona; Univ Paris Est Créteil (E.M.), INSERM, U955 IMRB; AP-HP, Hopital Mondor, Neuromuscular Reference Center, Créteil, France; Department of Human Genetics (E.-J.K.), Radboud University Medical Center; and Department of Physiology (C.A.C.O.), Amsterdam University Medical Centers, the Netherlands.; Molenaar JPF; From the Department of Neurology (E.S.B.K., K.B., J.P.F.M., B.G.M.V.E., J.D., N.C.V.), Donders Institute for Brain, Cognition and Behaviour; Department of Pathology (B.K.); Department of Rehabilitation (J.T.G.), Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, the Netherlands; Neuromuscular Diseases Unit (M.O.), Department of Neurology, Hospital de La Santa Creu i Sant Pau; Biomedical Research Institute Sant Pau (IIB Sant Pau) Spain; Centro para la Investigación Biomédica en Red en Enfermedades Raras (CIBERER), Barcelona; Univ Paris Est Créteil (E.M.), INSERM, U955 IMRB; AP-HP, Hopital Mondor, Neuromuscular Reference Center, Créteil, France; Department of Human Genetics (E.-J.K.), Radboud University Medical Center; and Department of Physiology (C.A.C.O.), Amsterdam University Medical Centers, the Netherlands.; Küsters B; From the Department of Neurology (E.S.B.K., K.B., J.P.F.M., B.G.M.V.E., J.D., N.C.V.), Donders Institute for Brain, Cognition and Behaviour; Department of Pathology (B.K.); Department of Rehabilitation (J.T.G.), Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, the Netherlands; Neuromuscular Diseases Unit (M.O.), Department of Neurology, Hospital de La Santa Creu i Sant Pau; Biomedical Research Institute Sant Pau (IIB Sant Pau) Spain; Centro para la Investigación Biomédica en Red en Enfermedades Raras (CIBERER), Barcelona; Univ Paris Est Créteil (E.M.), INSERM, U955 IMRB; AP-HP, Hopital Mondor, Neuromuscular Reference Center, Créteil, France; Department of Human Genetics (E.-J.K.), Radboud University Medical Center; and Department of Physiology (C.A.C.O.), Amsterdam University Medical Centers, the Netherlands.; Groothuis JT; From the Department of Neurology (E.S.B.K., K.B., J.P.F.M., B.G.M.V.E., J.D., N.C.V.), Donders Institute for Brain, Cognition and Behaviour; Department of Pathology (B.K.); Department of Rehabilitation (J.T.G.), Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, the Netherlands; Neuromuscular Diseases Unit (M.O.), Department of Neurology, Hospital de La Santa Creu i Sant Pau; Biomedical Research Institute Sant Pau (IIB Sant Pau) Spain; Centro para la Investigación Biomédica en Red en Enfermedades Raras (CIBERER), Barcelona; Univ Paris Est Créteil (E.M.), INSERM, U955 IMRB; AP-HP, Hopital Mondor, Neuromuscular Reference Center, Créteil, France; Department of Human Genetics (E.-J.K.), Radboud University Medical Center; and Department of Physiology (C.A.C.O.), Amsterdam University Medical Centers, the Netherlands.; Olivé M; From the Department of Neurology (E.S.B.K., K.B., J.P.F.M., B.G.M.V.E., J.D., N.C.V.), Donders Institute for Brain, Cognition and Behaviour; Department of Pathology (B.K.); Department of Rehabilitation (J.T.G.), Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, the Netherlands; Neuromuscular Diseases Unit (M.O.), Department of Neurology, Hospital de La Santa Creu i Sant Pau; Biomedical Research Institute Sant Pau (IIB Sant Pau) Spain; Centro para la Investigación Biomédica en Red en Enfermedades Raras (CIBERER), Barcelona; Univ Paris Est Créteil (E.M.), INSERM, U955 IMRB; AP-HP, Hopital Mondor, Neuromuscular Reference Center, Créteil, France; Department of Human Genetics (E.-J.K.), Radboud University Medical Center; and Department of Physiology (C.A.C.O.), Amsterdam University Medical Centers, the Netherlands.; Malfatti E; From the Department of Neurology (E.S.B.K., K.B., J.P.F.M., B.G.M.V.E., J.D., N.C.V.), Donders Institute for Brain, Cognition and Behaviour; Department of Pathology (B.K.); Department of Rehabilitation (J.T.G.), Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, the Netherlands; Neuromuscular Diseases Unit (M.O.), Department of Neurology, Hospital de La Santa Creu i Sant Pau; Biomedical Research Institute Sant Pau (IIB Sant Pau) Spain; Centro para la Investigación Biomédica en Red en Enfermedades Raras (CIBERER), Barcelona; Univ Paris Est Créteil (E.M.), INSERM, U955 IMRB; AP-HP, Hopital Mondor, Neuromuscular Reference Center, Créteil, France; Department of Human Genetics (E.-J.K.), Radboud University Medical Center; and Department of Physiology (C.A.C.O.), Amsterdam University Medical Centers, the Netherlands.; Kamsteeg EJ; From the Department of Neurology (E.S.B.K., K.B., J.P.F.M., B.G.M.V.E., J.D., N.C.V.), Donders Institute for Brain, Cognition and Behaviour; Department of Pathology (B.K.); Department of Rehabilitation (J.T.G.), Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, the Netherlands; Neuromuscular Diseases Unit (M.O.), Department of Neurology, Hospital de La Santa Creu i Sant Pau; Biomedical Research Institute Sant Pau (IIB Sant Pau) Spain; Centro para la Investigación Biomédica en Red en Enfermedades Raras (CIBERER), Barcelona; Univ Paris Est Créteil (E.M.), INSERM, U955 IMRB; AP-HP, Hopital Mondor, Neuromuscular Reference Center, Créteil, France; Department of Human Genetics (E.-J.K.), Radboud University Medical Center; and Department of Physiology (C.A.C.O.), Amsterdam University Medical Centers, the Netherlands.; Van Engelen BGM; From the Department of Neurology (E.S.B.K., K.B., J.P.F.M., B.G.M.V.E., J.D., N.C.V.), Donders Institute for Brain, Cognition and Behaviour; Department of Pathology (B.K.); Department of Rehabilitation (J.T.G.), Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, the Netherlands; Neuromuscular Diseases Unit (M.O.), Department of Neurology, Hospital de La Santa Creu i Sant Pau; Biomedical Research Institute Sant Pau (IIB Sant Pau) Spain; Centro para la Investigación Biomédica en Red en Enfermedades Raras (CIBERER), Barcelona; Univ Paris Est Créteil (E.M.), INSERM, U955 IMRB; AP-HP, Hopital Mondor, Neuromuscular Reference Center, Créteil, France; Department of Human Genetics (E.-J.K.), Radboud University Medical Center; and Department of Physiology (C.A.C.O.), Amsterdam University Medical Centers, the Netherlands.; Ottenheijm CAC; From the Department of Neurology (E.S.B.K., K.B., J.P.F.M., B.G.M.V.E., J.D., N.C.V.), Donders Institute for Brain, Cognition and Behaviour; Department of Pathology (B.K.); Department of Rehabilitation (J.T.G.), Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, the Netherlands; Neuromuscular Diseases Unit (M.O.), Department of Neurology, Hospital de La Santa Creu i Sant Pau; Biomedical Research Institute Sant Pau (IIB Sant Pau) Spain; Centro para la Investigación Biomédica en Red en Enfermedades Raras (CIBERER), Barcelona; Univ Paris Est Créteil (E.M.), INSERM, U955 IMRB; AP-HP, Hopital Mondor, Neuromuscular Reference Center, Créteil, France; Department of Human Genetics (E.-J.K.), Radboud University Medical Center; and Department of Physiology (C.A.C.O.), Amsterdam University Medical Centers, the Netherlands.; Doorduin J; From the Department of Neurology (E.S.B.K., K.B., J.P.F.M., B.G.M.V.E., J.D., N.C.V.), Donders Institute for Brain, Cognition and Behaviour; Department of Pathology (B.K.); Department of Rehabilitation (J.T.G.), Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, the Netherlands; Neuromuscular Diseases Unit (M.O.), Department of Neurology, Hospital de La Santa Creu i Sant Pau; Biomedical Research Institute Sant Pau (IIB Sant Pau) Spain; Centro para la Investigación Biomédica en Red en Enfermedades Raras (CIBERER), Barcelona; Univ Paris Est Créteil (E.M.), INSERM, U955 IMRB; AP-HP, Hopital Mondor, Neuromuscular Reference Center, Créteil, France; Department of Human Genetics (E.-J.K.), Radboud University Medical Center; and Department of Physiology (C.A.C.O.), Amsterdam University Medical Centers, the Netherlands.; Voermans NC; From the Department of Neurology (E.S.B.K., K.B., J.P.F.M., B.G.M.V.E., J.D., N.C.V.), Donders Institute for Brain, Cognition and Behaviour; Department of Pathology (B.K.); Department of Rehabilitation (J.T.G.), Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, the Netherlands; Neuromuscular Diseases Unit (M.O.), Department of Neurology, Hospital de La Santa Creu i Sant Pau; Biomedical Research Institute Sant Pau (IIB Sant Pau) Spain; Centro para la Investigación Biomédica en Red en Enfermedades Raras (CIBERER), Barcelona; Univ Paris Est Créteil (E.M.), INSERM, U955 IMRB; AP-HP, Hopital Mondor, Neuromuscular Reference Center, Créteil, France; Department of Human Genetics (E.-J.K.), Radboud University Medical Center; and Department of Physiology (C.A.C.O.), Amsterdam University Medical Centers, the Netherlands.

Publisher: Published for the American Academy of Neurology by Wolters Kluwer Country of Publication: United States NLM ID: 101671068 Publication Model: eCollection Cited Medium: Print ISSN: 2376-7839 (Print) Linking ISSN: 23767839 NLM ISO Abbreviation: Neurol Genet Subsets: PubMed not MEDLINE

van Kleef ESB; Department of Neurology, Donders Institute for Brain, Cognition and Behaviour, Radboud university Medical Center, Geert Grooteplein Zuid 10, Nijmegen 6525 GA, the Netherlands.; van de Camp SAJH; Department of Neurology, Donders Institute for Brain, Cognition and Behaviour, Radboud university Medical Center, Geert Grooteplein Zuid 10, Nijmegen 6525 GA, the Netherlands.; Groothuis JT; Department of Rehabilitation, Donders Institute for Brain, Cognition and Behaviour, Radboud university Medical Center, Nijmegen, the Netherlands.; Erasmus CE; Department of Paediatric Neurology, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center- Amalia Children's Hospital, Nijmegen, the Netherlands.; Gaytant MA; Center for Home Mechanical Ventilation, Department of Pulmonology, University Medical Center Utrecht, Utrecht, the Netherlands.; Vosse BAH; Department of Pulmonary Diseases, Maastricht University Medical Center, Maastricht, the Netherlands.; de Weerd W; Department of Pediatrics, Beatrix Children's Hospital, University Medical Center Groningen, Groningen, the Netherlands.; Verschuuren-Bemelmans CC; Department of Genetics, University Medical Center Groningen, University of Groningen, Groningen, the Netherlands.; Medici-Van den Herik EG; Department of Paediatric Neurology Erasmus MC- Sophia Children's Hospital, University Medical Center Rotterdam, the Netherlands.; Wallgren-Pettersson C; Folkhälsan Research Center, Folkhälsan Institute of Genetics, Helsinki, Finland; Department of Medical and Clinical Genetics, Medicum, University of Helsinki, Helsinki, Finland.; Küsters B; Department of Pathology, Radboud University Medical Center, Nijmegen, the Netherlands.; Schouten M; Department of Genetics, Radboud University Medical Center, Nijmegen, the Netherlands.; van Engelen BGM; Department of Neurology, Donders Institute for Brain, Cognition and Behaviour, Radboud university Medical Center, Geert Grooteplein Zuid 10, Nijmegen 6525 GA, the Netherlands.; Ottenheijm CAC; Department of Physiology, Amsterdam UMC (location VUmc), Amsterdam, the Netherlands.; Doorduin J; Department of Neurology, Donders Institute for Brain, Cognition and Behaviour, Radboud university Medical Center, Geert Grooteplein Zuid 10, Nijmegen 6525 GA, the Netherlands.; Voermans NC; Department of Neurology, Donders Institute for Brain, Cognition and Behaviour, Radboud university Medical Center, Geert Grooteplein Zuid 10, Nijmegen 6525 GA, the Netherlands. Electronic address: Nicol.Voermans@radboudumc.nl.

Publisher: Pergamon Press Country of Publication: England NLM ID: 9111470 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1873-2364 (Electronic) Linking ISSN: 09608966 NLM ISO Abbreviation: Neuromuscul Disord Subsets: MEDLINE

de, Winter JM; Molenaar, JP; Yuen, M; van, der Pijl R; Shen, S; Conijn, S; van, de Locht M; Willigenburg, M; Bogaards, SJP; van, Kleef ESB

JOURNAL OF CLINICAL INVESTIGATION. 130(2):754-767

Bouman K; Department of Neurology, Donders Institute for Brain, Cognition and Behaviour, Radboud university medical center, Nijmegen, The Netherlands. Karlijn.bouman@radboudumc.nl.; Department of Pediatric Neurology, Donders Institute for Brain, Cognition and Behaviour, Amalia Children's Hospital, Radboud university medical center, Nijmegen, The Netherlands. Karlijn.bouman@radboudumc.nl.; Groothuis JT; Department of Rehabilitation, Donders Institute for Brain, Cognition and Behaviour, Radboud university medical center, Nijmegen, The Netherlands.; Doorduin J; Department of Neurology, Donders Institute for Brain, Cognition and Behaviour, Radboud university medical center, Nijmegen, The Netherlands.; van Alfen N; Department of Neurology, Donders Institute for Brain, Cognition and Behaviour, Radboud university medical center, Nijmegen, The Netherlands.; Udink Ten Cate FEA; Department of Pediatric cardiology, Amalia Children's Hospital, Radboud university medical center, Nijmegen, The Netherlands.; van den Heuvel FMA; Department of Cardiology, Radboud university medical center, Nijmegen, The Netherlands.; Nijveldt R; Department of Cardiology, Radboud university medical center, Nijmegen, The Netherlands.; van Tilburg WCM; Department of Radiology, Radboud university medical center, Nijmegen, The Netherlands.; Buckens SCFM; Department of Radiology, Radboud university medical center, Nijmegen, The Netherlands.; Dittrich ATM; Department of Pediatrics, Amalia Children's Hospital, Radboud university medical center, Nijmegen, The Netherlands.; Draaisma JMT; Department of Pediatrics, Amalia Children's Hospital, Radboud university medical center, Nijmegen, The Netherlands.; Janssen MCH; Department of Internal Medicine, Radboud university medical center, Nijmegen, The Netherlands.; Kamsteeg EJ; Department of Human Genetics, Radboud university medical center, Nijmegen, The Netherlands.; van Kleef ESB; Department of Neurology, Donders Institute for Brain, Cognition and Behaviour, Radboud university medical center, Nijmegen, The Netherlands.; Koene S; Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.; Smeitink JAM; Khondrion BV, Nijmegen, The Netherlands.; Küsters B; Department of Pathology, Radboud university medical center, Nijmegen, The Netherlands.; van Tienen FHJ; Department of Toxicogenomics, Maastricht University, Maastricht, The Netherlands.; Smeets HJM; Department of Toxicogenomics, Maastricht University, Maastricht, The Netherlands.; School for Mental Health and Neurosciences (MHeNS), Maastricht University, Maastricht, the Netherlands.; School for Developmental Biology and Oncology (GROW), Maastricht University, Maastricht, The Netherlands.; van Engelen BGM; Department of Neurology, Donders Institute for Brain, Cognition and Behaviour, Radboud university medical center, Nijmegen, The Netherlands.; Erasmus CE; Department of Pediatric Neurology, Donders Institute for Brain, Cognition and Behaviour, Amalia Children's Hospital, Radboud university medical center, Nijmegen, The Netherlands.; Voermans NC; Department of Neurology, Donders Institute for Brain, Cognition and Behaviour, Radboud university medical center, Nijmegen, The Netherlands.

Publisher: BioMed Central Country of Publication: England NLM ID: 100968555 Publication Model: Electronic Cited Medium: Internet ISSN: 1471-2377 (Electronic) Linking ISSN: 14712377 NLM ISO Abbreviation: BMC Neurol Subsets: MEDLINE

van Kleef ESB; Department of Neurology, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Centre, Nijmegen, the Netherlands.; van Doorn JLM; Department of Neurology, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Centre, Nijmegen, the Netherlands.; Gaytant MA; Department of Pulmonary Diseases/Home Mechanical Ventilation, University Medical Center Utrecht, the Netherlands.; de Weerd W; Department of Pediatrics, Beatrix Children's Hospital, University Medical Center Groningen, the Netherlands.; Vosse BAH; Department of Pulmonary Diseases, Maastricht University Medical Center, the Netherlands.; Wallgren-Pettersson C; Folkhälsan Institute of Genetics, Folkhälsan Research Center, Helsinki, Finland; Department of Medical and Clinical Genetics, Medicum, University of Helsinki, Helsinki, Finland.; van Engelen BGM; Department of Neurology, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Centre, Nijmegen, the Netherlands.; Ottenheijm CAC; Department of Physiology, Amsterdam UMC (location Vumc), the Netherlands.; Voermans NC; Department of Neurology, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Centre, Nijmegen, the Netherlands.; Doorduin J; Department of Neurology, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Centre, Nijmegen, the Netherlands. Electronic address: Jonne.Doorduin@radboudumc.nl.

Publisher: Pergamon Press Country of Publication: England NLM ID: 9111470 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1873-2364 (Electronic) Linking ISSN: 09608966 NLM ISO Abbreviation: Neuromuscul Disord Subsets: MEDLINE

Bouman K; From the Department of Neurology, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands.; U1179 UVSQ-INSERM Handicap Neuromusculaire: Physiologie, Biothérapie et Pharmacologie appliquées, UFR Simone Veil-Santé, Université Versailles-Saint-Quentin-en-Yvelines, Paris-Saclay, France.; Küsters B; Department of Pathology, Radboud University Medical Center, Nijmegen, The Netherlands.; De Winter JM; Department of Physiology, Amsterdam University Medical Center, VUmc, The Netherlands.; Gillet C; Cytometry/Electronic Microscopy/Light Microscopy Facility, Imagerie-Gif, Institute for Integrative Biology of the Cell I2BC), CEA, CNRS, Univ. Paris-Sud, Université Paris-Saclay, Gif-sur-Yvette, France.; Van Kleef ESB; From the Department of Neurology, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands.; Eshuis L; Department of Pathology, Radboud University Medical Center, Nijmegen, The Netherlands.; Brochier G; Unité de Morphologie Neuromusculaire, Institut de Myologie, Groupe Hospitalier Universitaire La Pitié-Salpêtrière, Paris, France.; Madelaine A; Unité de Morphologie Neuromusculaire, Institut de Myologie, Groupe Hospitalier Universitaire La Pitié-Salpêtrière, Paris, France.; Labasse C; Unité de Morphologie Neuromusculaire, Institut de Myologie, Groupe Hospitalier Universitaire La Pitié-Salpêtrière, Paris, France.; Boulogne C; Cytometry/Electronic Microscopy/Light Microscopy Facility, Imagerie-Gif, Institute for Integrative Biology of the Cell I2BC), CEA, CNRS, Univ. Paris-Sud, Université Paris-Saclay, Gif-sur-Yvette, France.; Van Engelen BGM; From the Department of Neurology, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands.; Ottenheijm CAC; Department of Physiology, Amsterdam University Medical Center, VUmc, The Netherlands.; Romero NB; Unité de Morphologie Neuromusculaire, Institut de Myologie, Groupe Hospitalier Universitaire La Pitié-Salpêtrière, Paris, France.; Université Sorbonne, INSERM UMRS974, Center for Research in Myology, Centre de référence de Pathologie Neuromusculaire Paris-Est, GHU Pitié-Salpêtrière, Paris, France.; Voermans NC; From the Department of Neurology, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands.; Malfatti E; U1179 UVSQ-INSERM Handicap Neuromusculaire: Physiologie, Biothérapie et Pharmacologie appliquées, UFR Simone Veil-Santé, Université Versailles-Saint-Quentin-en-Yvelines, Paris-Saclay, France.; APHP, Department of Neurology, Raymond Poincaré Hospital, Centre de Référence de Pathologie Neuromusculaire Nord-Est-Ile-de-France, Garches, France.

Publisher: Oxford University Press Country of Publication: England NLM ID: 2985192R Publication Model: Print Cited Medium: Internet ISSN: 1554-6578 (Electronic) Linking ISSN: 00223069 NLM ISO Abbreviation: J Neuropathol Exp Neurol Subsets: MEDLINE