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: IOS Press Country of Publication: Netherlands 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

van der Veen S; Department of Neurology, University of Groningen, University Medical Centre Groningen, 9700 RB, Groningen, the Netherlands; Expertise Centre Movement Disorders Groningen, University Medical Centre Groningen, 9700 RB, Groningen, the Netherlands.; Eggink H; Department of Neurology, University of Groningen, University Medical Centre Groningen, 9700 RB, Groningen, the Netherlands; Expertise Centre Movement Disorders Groningen, University Medical Centre Groningen, 9700 RB, Groningen, the Netherlands.; Elting JWJ; Department of Neurology, University of Groningen, University Medical Centre Groningen, 9700 RB, Groningen, the Netherlands; Expertise Centre Movement Disorders Groningen, University Medical Centre Groningen, 9700 RB, Groningen, the Netherlands.; Sival D; Expertise Centre Movement Disorders Groningen, University Medical Centre Groningen, 9700 RB, Groningen, the Netherlands; Department of Pediatrics, University of Groningen, University Medical Center Groningen, 9700 RB, Groningen, the Netherlands.; Verschuuren-Bemelmans CC; Expertise Centre Movement Disorders Groningen, University Medical Centre Groningen, 9700 RB, Groningen, the Netherlands; Department of Genetics, University of Groningen, University Medical Centre Groningen, 9700 RB, Groningen, the Netherlands.; de Koning TJ; Expertise Centre Movement Disorders Groningen, University Medical Centre Groningen, 9700 RB, Groningen, the Netherlands; Department of Genetics, University of Groningen, University Medical Centre Groningen, 9700 RB, Groningen, the Netherlands; Pediatrics, department of Clinical Sciences, Lund University, 22185 Lund, Sweden.; Tijssen MAJ; Department of Neurology, University of Groningen, University Medical Centre Groningen, 9700 RB, Groningen, the Netherlands; Expertise Centre Movement Disorders Groningen, University Medical Centre Groningen, 9700 RB, Groningen, the Netherlands. Electronic address: m.a.j.de.koning-tijssen@umcg.nl.

Publisher: Academic Press Country of Publication: United States NLM ID: 9500169 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1095-953X (Electronic) Linking ISSN: 09699961 NLM ISO Abbreviation: Neurobiol Dis Subsets: MEDLINE

van Prooije TH; Department of Neurology, Donders Institute for Brain, Cognition, and Behavior, Radboud University Medical Center, Nijmegen, the Netherlands.; Pennings M; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands.; Dorresteijn L; Department of Neurology, Medisch Spectrum Twente, Enschede, the Netherlands.; Gardeitchik T; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands.; Odekerken VJJ; Department of Neurology, Amsterdam UMC, Amsterdam, the Netherlands.; Oosterloo M; Department of Neurology, School for Mental Health and Neuroscience, Maastricht University Medical Center, Maastricht, the Netherlands.; Pedersen A; Department of Laboratory Medicine, Institute of Biomedicine, University of Gothenburg, Gothenburg, Sweden.; Department of Clinical Genetics and Genomics, Sahlgrenska University Hospital, Gothenburg, Sweden.; Verschuuren-Bemelmans CC; Department of Genetics, University Medical Center Groningen, University of Groningen, Groningen, the Netherlands.; Vrancken A; Department of Neurology, Brain Center Rudolf Magnus, University Medical Center Utrecht, Utrecht, the Netherlands.; Kamsteeg EJ; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands.; van de Warrenburg BPC; Department of Neurology, Donders Institute for Brain, Cognition, and Behavior, Radboud University Medical Center, Nijmegen, the Netherlands.

Publisher: Wiley-Liss Country of Publication: United States NLM ID: 8610688 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1531-8257 (Electronic) Linking ISSN: 08853185 NLM ISO Abbreviation: Mov Disord Subsets: 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

Ghorbani F; From the Department of Genetics (F.G., E.N.d.B., M.B.-S., C.C.V.-B., J.K., J.d.B.-B., B.S.-R., D.S.V., H.W., C.C.v.D.), University Medical Center Groningen, University of Groningen, Groningen, the Netherlands; and Department of Neurology (J.J.d.V.), University Medical Center Groningen, University of Groningen, Groningen, the Netherlands.; de Boer EN; From the Department of Genetics (F.G., E.N.d.B., M.B.-S., C.C.V.-B., J.K., J.d.B.-B., B.S.-R., D.S.V., H.W., C.C.v.D.), University Medical Center Groningen, University of Groningen, Groningen, the Netherlands; and Department of Neurology (J.J.d.V.), University Medical Center Groningen, University of Groningen, Groningen, the Netherlands.; Benjamins-Stok M; From the Department of Genetics (F.G., E.N.d.B., M.B.-S., C.C.V.-B., J.K., J.d.B.-B., B.S.-R., D.S.V., H.W., C.C.v.D.), University Medical Center Groningen, University of Groningen, Groningen, the Netherlands; and Department of Neurology (J.J.d.V.), University Medical Center Groningen, University of Groningen, Groningen, the Netherlands.; Verschuuren-Bemelmans CC; From the Department of Genetics (F.G., E.N.d.B., M.B.-S., C.C.V.-B., J.K., J.d.B.-B., B.S.-R., D.S.V., H.W., C.C.v.D.), University Medical Center Groningen, University of Groningen, Groningen, the Netherlands; and Department of Neurology (J.J.d.V.), University Medical Center Groningen, University of Groningen, Groningen, the Netherlands.; Knapper J; From the Department of Genetics (F.G., E.N.d.B., M.B.-S., C.C.V.-B., J.K., J.d.B.-B., B.S.-R., D.S.V., H.W., C.C.v.D.), University Medical Center Groningen, University of Groningen, Groningen, the Netherlands; and Department of Neurology (J.J.d.V.), University Medical Center Groningen, University of Groningen, Groningen, the Netherlands.; de Boer-Bergsma J; From the Department of Genetics (F.G., E.N.d.B., M.B.-S., C.C.V.-B., J.K., J.d.B.-B., B.S.-R., D.S.V., H.W., C.C.v.D.), University Medical Center Groningen, University of Groningen, Groningen, the Netherlands; and Department of Neurology (J.J.d.V.), University Medical Center Groningen, University of Groningen, Groningen, the Netherlands.; de Vries JJ; From the Department of Genetics (F.G., E.N.d.B., M.B.-S., C.C.V.-B., J.K., J.d.B.-B., B.S.-R., D.S.V., H.W., C.C.v.D.), University Medical Center Groningen, University of Groningen, Groningen, the Netherlands; and Department of Neurology (J.J.d.V.), University Medical Center Groningen, University of Groningen, Groningen, the Netherlands.; Sikkema-Raddatz B; From the Department of Genetics (F.G., E.N.d.B., M.B.-S., C.C.V.-B., J.K., J.d.B.-B., B.S.-R., D.S.V., H.W., C.C.v.D.), University Medical Center Groningen, University of Groningen, Groningen, the Netherlands; and Department of Neurology (J.J.d.V.), University Medical Center Groningen, University of Groningen, Groningen, the Netherlands.; Verbeek DS; From the Department of Genetics (F.G., E.N.d.B., M.B.-S., C.C.V.-B., J.K., J.d.B.-B., B.S.-R., D.S.V., H.W., C.C.v.D.), University Medical Center Groningen, University of Groningen, Groningen, the Netherlands; and Department of Neurology (J.J.d.V.), University Medical Center Groningen, University of Groningen, Groningen, the Netherlands.; Westers H; From the Department of Genetics (F.G., E.N.d.B., M.B.-S., C.C.V.-B., J.K., J.d.B.-B., B.S.-R., D.S.V., H.W., C.C.v.D.), University Medical Center Groningen, University of Groningen, Groningen, the Netherlands; and Department of Neurology (J.J.d.V.), University Medical Center Groningen, University of Groningen, Groningen, the Netherlands.; van Diemen CC; From the Department of Genetics (F.G., E.N.d.B., M.B.-S., C.C.V.-B., J.K., J.d.B.-B., B.S.-R., D.S.V., H.W., C.C.v.D.), University Medical Center Groningen, University of Groningen, Groningen, the Netherlands; and Department of Neurology (J.J.d.V.), University Medical Center Groningen, University of Groningen, Groningen, 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

Ghorbani F; Department of Genetics, HPC CB50, University Medical Center Groningen, University of Groningen, P.O. Box 30001, 9700 RB, Groningen, The Netherlands.; de Boer-Bergsma J; Department of Genetics, HPC CB50, University Medical Center Groningen, University of Groningen, P.O. Box 30001, 9700 RB, Groningen, The Netherlands.; Verschuuren-Bemelmans CC; Department of Genetics, HPC CB50, University Medical Center Groningen, University of Groningen, P.O. Box 30001, 9700 RB, Groningen, The Netherlands.; Expertise Center Movement Disorders Groningen, University Medical Center Groningen, Groningen, The Netherlands.; Pennings M; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.; de Boer EN; Department of Genetics, HPC CB50, University Medical Center Groningen, University of Groningen, P.O. Box 30001, 9700 RB, Groningen, The Netherlands.; Kremer B; Department of Neurology, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands.; Expertise Center Movement Disorders Groningen, University Medical Center Groningen, Groningen, The Netherlands.; Vanhoutte EK; Department of Clinical Genetics, Maastricht University Medical Center, Maastricht, The Netherlands.; de Vries JJ; Department of Neurology, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands.; Expertise Center Movement Disorders Groningen, University Medical Center Groningen, Groningen, The Netherlands.; van de Berg R; Department of Otorhinolaryngology and Head and Neck Surgery, School for Mental Health and Neuroscience, Maastricht University Medical Center, Maastricht, The Netherlands.; Kamsteeg EJ; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.; van Diemen CC; Department of Genetics, HPC CB50, University Medical Center Groningen, University of Groningen, P.O. Box 30001, 9700 RB, Groningen, The Netherlands.; Westers H; Department of Genetics, HPC CB50, University Medical Center Groningen, University of Groningen, P.O. Box 30001, 9700 RB, Groningen, The Netherlands.; van de Warrenburg BP; Department of Neurology, Donders Institute for Brain, Cognition, and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands.; Verbeek DS; Department of Genetics, HPC CB50, University Medical Center Groningen, University of Groningen, P.O. Box 30001, 9700 RB, Groningen, The Netherlands. d.s.verbeek@umcg.nl.; Expertise Center Movement Disorders Groningen, University Medical Center Groningen, Groningen, The Netherlands. d.s.verbeek@umcg.nl.

Publisher: Springer-Verlag Country of Publication: Germany NLM ID: 0423161 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1432-1459 (Electronic) Linking ISSN: 03405354 NLM ISO Abbreviation: J Neurol Subsets: MEDLINE

Ghorbani F; Department of Genetics, University Medical Center Groningen, University of Groningen, Groningen, Netherlands.; Alimohamed MZ; Department of Genetics, University Medical Center Groningen, University of Groningen, Groningen, Netherlands.; Department of Hematology and Blood Transfusion, Muhimbili University of Health and Allied Sciences, Dar es Salaam, Tanzania.; Shree Hindu Mandal Hospital, Dar es Salaam, Tanzania.; Vilacha JF; Groningen Biomolecular Sciences and Biotechnology Institute, Zernike Institute for Advanced Materials, University of Groningen, Groningen, Netherlands.; Van Dijk KK; Department of Genetics, University Medical Center Groningen, University of Groningen, Groningen, Netherlands.; De Boer-Bergsma J; Department of Genetics, University Medical Center Groningen, University of Groningen, Groningen, Netherlands.; Fokkens MR; Department of Genetics, University Medical Center Groningen, University of Groningen, Groningen, Netherlands.; Lemmink H; Department of Genetics, University Medical Center Groningen, University of Groningen, Groningen, Netherlands.; Sijmons RH; Department of Genetics, University Medical Center Groningen, University of Groningen, Groningen, Netherlands.; Sikkema-Raddatz B; Department of Genetics, University Medical Center Groningen, University of Groningen, Groningen, Netherlands.; Groves MR; Structural Biology in Drug Design, Department of Drug Design, Groningen Research Institute of Pharmacy, University of Groningen, Groningen, Netherlands.; Verschuuren-Bemelmans CC; Department of Genetics, University Medical Center Groningen, University of Groningen, Groningen, Netherlands.; Verbeek DS; Department of Genetics, University Medical Center Groningen, University of Groningen, Groningen, Netherlands.; Van Diemen CC; Department of Genetics, University Medical Center Groningen, University of Groningen, Groningen, Netherlands.; Westers H; Department of Genetics, University Medical Center Groningen, University of Groningen, Groningen, Netherlands.

Publisher: Frontiers Research Foundation Country of Publication: Switzerland NLM ID: 101560621 Publication Model: eCollection Cited Medium: Print ISSN: 1664-8021 (Print) Linking ISSN: 16648021 NLM ISO Abbreviation: Front Genet Subsets: PubMed not MEDLINE

Reumers SFI; Department of Neurology, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands.; Erasmus CE; Department of Paediatric Neurology, Radboud University Medical Center - Amalia Children's Hospital, Nijmegen, The Netherlands.; Bouman K; Department of Neurology, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands.; Department of Paediatric Neurology, Radboud University Medical Center - Amalia Children's Hospital, Nijmegen, The Netherlands.; Pennings M; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.; Schouten M; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.; Kusters B; Department of pathology, Radboud University Medical Center, Nijmegen, The Netherlands.; Duijkers FAM; Department of Clinical Genetics, Amsterdam UMC, University of Amsterdam, Amsterdam, The Netherlands.; van der Kooi A; Department of Neurology, Amsterdam University Medical Center, Amsterdam, The Netherlands.; Jaeger B; Department of Paediatric Neurology, Amsterdam University Medical Centers, Amsterdam, The Netherlands.; Verschuuren-Bemelmans CC; Department of Genetics, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands.; Faber CG; Department of Neurology, School of Mental Health and Neuroscience, Maastricht University Medical Center+, Maastricht, The Netherlands.; van Engelen BG; Department of Neurology, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands.; Kamsteeg EJ; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.; Jungbluth H; Department of Paediatric Neurology, Neuromuscular Service, Evelina's Children Hospital, Guy's & St. Thomas' Hospital NHS Foundation Trust, London, UK.; Randall Centre for Cell and Molecular Biophysics, Muscle Signalling Section, FoLSM, King's College, London, UK.; Voermans NC; Department of Neurology, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands.

Publisher: Munksgaard Country of Publication: Denmark NLM ID: 0253664 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1399-0004 (Electronic) Linking ISSN: 00099163 NLM ISO Abbreviation: Clin Genet Subsets: MEDLINE

Donkervoort S; Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, Maryland, USA.; Mohassel P; Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, Maryland, USA.; Laugwitz L; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.; Department of Paediatric Neurology, University Children's Hospital, Tübingen, Germany.; Zaki MS; Clinical Genetics Department, Human Genetics and Genome Research Division, National Research Centre, Cairo, Egypt.; Kamsteeg EJ; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.; Maroofian R; Department of Neuromuscular Disorders, University College London Institute of Neurology, London, UK.; Chao KR; Center for Mendelian Genomics, Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, Massachusetts, USA.; Verschuuren-Bemelmans CC; Department of Genetics, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands.; Horber V; Department of Paediatric Neurology, University Children's Hospital, Tübingen, Germany.; Fock AJM; Department of Neurology, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands.; McCarty RM; Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, Maryland, USA.; Jain MS; Rehabilitation Medicine Department, Clinical Research Center, National Institutes of Health, Bethesda, Maryland, USA.; Biancavilla V; Rehabilitation Medicine Department, Clinical Research Center, National Institutes of Health, Bethesda, Maryland, USA.; McMacken G; Department of Neurosciences, Royal Victoria Hospital, Belfast, UK.; Nalls M; Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, Maryland, USA.; Voermans NC; Department of Neurology, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Centre, Nijmegen, The Netherlands.; Elbendary HM; Clinical Genetics Department, Human Genetics and Genome Research Division, National Research Centre, Cairo, Egypt.; Snyder M; Department of Neurology, Children's Health, Dallas, Texas, USA.; Cai C; Department of Pathology, UT Southwestern Medical Center, Dallas, Texas, USA.; Lehky TJ; EMG Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, Maryland, USA.; Stanley V; Laboratory for Pediatric Brain Disease, Howard Hughes Medical Institute, University of California, San Diego, California, USA.; Rady Children's Institute for Genomic Medicine, Rady Children's Hospital, San Diego, California, USA.; Iannaccone ST; Department of Pediatrics, UT Southwestern Medical Center, Dallas, Texas, USA.; Foley AR; Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, Maryland, USA.; Lochmüller H; Department of Neuropediatrics and Muscle Disorders, Medical Center - University of Freiburg, Faculty of Medicine, Freiburg, Germany.; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Ontario, Canada.; Division of Neurology, Department of Medicine, The Ottawa Hospital, Ottawa, Ontario, Canada.; Gleeson J; Laboratory for Pediatric Brain Disease, Howard Hughes Medical Institute, University of California, San Diego, California, USA.; Rady Children's Institute for Genomic Medicine, Rady Children's Hospital, San Diego, California, USA.; Houlden H; Department of Neuromuscular Disorders, University College London Institute of Neurology, London, UK.; Haack TB; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.; Horvath R; Department of Clinical Neurosciences, University of Cambridge, Cambridge, UK.; Bönnemann CG; Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, Maryland, USA.

Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 101235741 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1552-4833 (Electronic) Linking ISSN: 15524825 NLM ISO Abbreviation: Am J Med Genet A Subsets: MEDLINE

Oosterloo M; Department of Neurology, Maastricht University Medical Center, Maastricht, The Netherlands. mayke.oosterloo@mumc.nl.; Department of Neurology, Leiden University Medical Center, Leiden, The Netherlands. mayke.oosterloo@mumc.nl.; Bijlsma EK; Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.; Verschuuren-Bemelmans CC; Department of Genetics, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands.; Schouten MI; Department of Clinical Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.; de Die-Smulders C; Department of Clinical Genetics, Maastricht University Medical Center and GROW, School for Oncology and Developmental Biology, Maastricht, The Netherlands.; Roos RAC; Department of Neurology, Leiden University Medical Center, Leiden, The Netherlands.

Publisher: Nature Publishing Group Country of Publication: England NLM ID: 9302235 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1476-5438 (Electronic) Linking ISSN: 10184813 NLM ISO Abbreviation: Eur J Hum Genet Subsets: MEDLINE