부산대학교 도서관

Deenen JC; Department of Neurology, Radboud university medical center, PO Box 9101, 6500 HB Nijmegen, the Netherlands.; Verbeek AL; Department for Health Evidence, Radboud university medical center, PO Box 9101, 6500 HB Nijmegen, the Netherlands.; Verschuuren JJ; Department of Neurology, Leiden University Medical Center, PO Box 9600, 2300 RC Leiden, the Netherlands.; van Engelen BG; Department of Neurology, Radboud university medical center, PO Box 9101, 6500 HB Nijmegen, the Netherlands.; Voermans NC; Department of Neurology, Radboud university medical center, PO Box 9101, 6500 HB Nijmegen, the Netherlands.

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

Voermans NC; Department of Neurology, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands.; Statland JM; Department of Neurology, University of Kansas Medical Center, Lawrence, KS, USA.; Hayward LJ; Department of Neurology, University of Massachusetts Chan Medical School, Worcester, MA, USA.; Rosenbohm A; Department of Neurology, Ulm University Hospital, Ulm, Germany.; López de Munain A; Neurociences Research Centre, University Hospital Donostia, Donostia, San Sebastián, Spain.; Sacconi S; Peripheral Nervous System & Muscle Department, Pasteur 2 Hospital, Nice University Hospital, Nice, France / Institute for Research on Cancer and Aging of Nice, CNRS, INSERM, Côte d'Azur University, Nice, France.; Leung DG; Center for Genetic Muscle Disorders, Kennedy Krieger Institute, Baltimore, MD, USA.; Badrising UA; Department of Neurology, Leiden University Medical Center, Leiden, The Netherlands.; Vissing J; Copenhagen Neuromuscular Center, Rigshospitalet, University of Copenhagen, Copenhagen, Denmark.; Schoser B; Department of Neurology LMU Clinic, Friedrich-Baur-Institute, Munich, Germany.; Muelas N; Neuromuscular Diseases Unit, Neurology Department, Hospital Universitari i Politècnic La Fe, Valencia, Spain.; Lochmüller H; Division of Neurology, Department of Medicine, The Ottawa Hospital, Ottawa, Canada.; Bugiardini E; Queen Square Centre for Neuromuscular Diseases, National Hospital for Neurology and Neurosurgery, London, UK.; Biomedical Research Centre, National Institute for Health Research, University College London Hospitals, London, UK.; Wang LH; Department of Neurology, University of Washington, Seattle, Washington, USA.; Maggi L; Neuroimmunology and Neuromuscular Diseases Unit, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.; Ragole T; Department of Neurology, University of Colorado School of Medicine, Aurora, CO, USA.; Pestronk A; Departments of Neurology and Pathology and Immunology, Washington University School of Medicine, Saint Louis, MO, USA.; Hamel JI; Department of Neurology, University of Rochester Medical Center, Rochester, NY, USA.; Goyal NA; Department of Neurology, University of California, Irvine, Orange, CA, USA.; Korngut L; Department of Clinical Neurosciences, Hotchkiss Brain Institute, University of Calgary, Calgary, Canada.; Naddaf E; Department of Neurology, Mayo Clinic, Rochester, MN, USA.; Harper A; Department of Neurology, Children's Hospital of Richmond at Virginia Commonwealth University, Richmond, VA, USA.; Shieh PB; Departments of Neurology and Pediatrics, University of California Los Angeles, Los Angeles, CA, USA.; Kornblum C; Department of Neuromuscular Diseases, Center for Neurology, University Hospital Bonn, Bonn, Germany.; Sansone V; The NEMO Center in Milan, Neurorehabilitation Unit, University of Milan, ASST Niguarda Hospital, Milan, Italy.; Genge A; Neurology Clinic, The Neuro - Montreal Neurological Institute Hospital, Montreal, Canada.; Tasca G; John Walton Muscular Dystrophy Research Centre, Newcastle University and Newcastle Hospitals NHS Foundation Trusts, Newcastle Upon Tyne, UK.; Jiang J; Fulcrum Therapeutics, Inc., Cambridge, MA, USA.; Jouvin MH; Fulcrum Therapeutics, Inc., Cambridge, MA, USA.; Tawil R; Department of Neurology, University of Rochester Medical Center, Rochester, NY, USA.

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

Ronco L; FSHD Society, 75 North Main Street, Suite 1073, Randolph, MA 02368, USA.; Tapscott S; Division of Human Biology, Fred Hutchinson Cancer Center, Professor, Department of Neurology, University of Washington, USA.; Voermans NC; Department of Neurology, Radboudumc Research Institute for Medical Innovation, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, 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

Kruijt N; Department of Neurology, Radboudumc Research Institute for Medical Innovation, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, 6525 XZ Nijmegen, The Netherlands.; van de Camp SAJH; Department of Neurology, Radboudumc Research Institute for Medical Innovation, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, 6525 XZ Nijmegen, The Netherlands.; Kramer JJ; Department of Neurology, Radboudumc Research Institute for Medical Innovation, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, 6525 XZ Nijmegen, The Netherlands.; van den Bersselaar LR; Department of Neurology, Radboudumc Research Institute for Medical Innovation, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, 6525 XZ Nijmegen, The Netherlands.; Malignant Hyperthermia Investigation Unit, Department of Anesthesiology, Canisius Wilhelmina Hospital, 6532 SZ Nijmegen, The Netherlands.; Department of Anesthesiology, Pain and Palliative Medicine, Radboud University Medical Center, 6500 HB Nijmegen, The Netherlands.; Schouten M; Department of Human Genetics, Radboud University Medical Center, 6525 GA Nijmegen, The Netherlands.; Gardeitchik T; Department of Human Genetics, Radboud University Medical Center, 6525 GA Nijmegen, The Netherlands.; Jungbluth H; Muscle Signalling Section, Randall Centre for Cell and Molecular Biophysics, Faculty of Life Sciences and Medicine (FoLSM), King's College London, London SE1 1UL, UK.; Department of Paediatric Neurology, Neuromuscular Service, Evelina London Children's Hospital, Guy's and St Thomas' Hospital NHS Foundation Trust, London SE1 7EH, UK.; Bhai S; Department of Neurology, University of Texas Southwestern Medical Center, Dallas, TX 75390, USA.; Neuromuscular Center, Institute for Exercise and Environmental Medicine, Texas Health Presbyterian, Dallas, TX 75231, USA.; van der Kooi AJ; Department of Neurology, Amsterdam University Medical Center, Amsterdam Neuroscience Institute, University of Amsterdam, 1081 HV Amsterdam, The Netherlands.; Kamsteeg EJ; Department of Human Genetics, Radboud University Medical Center, 6525 GA Nijmegen, The Netherlands.; Voermans NC; Department of Neurology, Radboudumc Research Institute for Medical Innovation, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, 6525 XZ Nijmegen, The Netherlands.

Publisher: MDPI Country of Publication: Switzerland NLM ID: 101551097 Publication Model: Electronic Cited Medium: Internet ISSN: 2073-4425 (Electronic) Linking ISSN: 20734425 NLM ISO Abbreviation: Genes (Basel) Subsets: MEDLINE

van den Bersselaar, LR; Riazi, S; Snoeck, MMJ; Jungbluth, H; Voermans, NC; Bastian, Börge; van den Bersselaar, Luuk R.; Cornel, Martina; Cambronero, Oscar Díaz; Dietrich, Klaus; van Esch, Charlotte; Forzano, Francesca; Gillies, Robyn; Hellblom, Anna; Heytens, Luc; Hopkins, Phil; Johannsen, Stephan; Jungbluth, Heinz; Kamsteeg, Erik-Jan; Klein, Andrea; Litman, Ron; Løkken, Nicoline; Münster, Tino; Reimann, Jens; Rendu, John; Riazi, Sheila; Rueffert, Henrik; Silva, Helga CA; Snoeck, Marc MJ; Soller, Maria; Stowell, Kathryn; Tasca, Giorgio; Veyckemans, Francis; Vilchez, Juan Jesus; Voermans, Nicol C.

Neuromuscular Disorders. 32(1):86-97

Teeselink S; Department of Neurology, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, the Netherlands.; Vincenten SCC; 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.; van Alfen N; Department of Neurology, Donders Institute for Brain, Cognition and Behaviour, 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.; Mul K; Department of Neurology, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, the Netherlands.

Publisher: Wiley Country of Publication: England NLM ID: 9506311 Publication Model: Print Cited Medium: Internet ISSN: 1468-1331 (Electronic) Linking ISSN: 13515101 NLM ISO Abbreviation: Eur J Neurol Subsets: MEDLINE

Colombo S; Dynacure SA (now Flamingo Therapeutics NV), Louvain, Belgium.; Cowling BS; Dynacure SA (now Flamingo Therapeutics NV), Louvain, Belgium.; Eyler L; Dynacure SA (now Flamingo Therapeutics NV), Louvain, Belgium.; Nijkamp D; Dynacure SA (now Flamingo Therapeutics NV), Louvain, Belgium.; Freitag C; Dynacure SA (now Flamingo Therapeutics NV), Louvain, Belgium.; Thielemans L; Dynacure SA (now Flamingo Therapeutics NV), Louvain, Belgium.; Bouman K; Department of Neurology, Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Center, Nijmegen, The Netherlands.; Baets J; Department of Neurology, Neuromuscular Reference Centre, Antwerp University Hospital, Antwerp, Belgium.; Faculty of Medicine and Health Sciences, Translational Neurosciences, University of Antwerp, Antwerp, Belgium.; Laboratory of Neuromuscular Pathology, Institute Born-Bunge, University of Antwerp, Antwerp, Belgium.; Vissing J; Copenhagen Neuromuscular Center, Department of Neurology, Rigshospitalet, University of Copenhagen, Copenhagen, Denmark.; Quinlivan R; MRC Centre for Neuromuscular Diseases, UCL Institute of Neurology, London, UK.; Guglieri M; John Walton Centre for Neuromuscular Disease, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle-upon-Tyne, UK.; Montagnese F; Friedrich Baur Institute at the Department of Neurology, LMU University Hospital, LMU Munich, Munich, Germany.; Schara-Schmidt U; Department of Pediatric Neurology, Developmental Neurology and Social Pediatrics, University of Essen, Germany.; Dhawan A; Pediatric Liver GI and Nutrition Centre and Mowat Labs, King's College Hospital, London, UK.; Lawlor MW; Diverge Translational Science Laboratory and Medical College of Wisconsin, Milwaukee, WI, USA.; Voermans NC; Department of Neurology, Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Center, Nijmegen, The Netherlands.

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

Sellenet M; Radboud university medical centre, Neurology 664, P.O. Box 9101, 6500 HB Nijmegen, The Netherlands. Electronic address: msellenet@orange.fr.; Belayew A; Research Institute for Health Sciences and Technology, University of Mons, Mons, Belgium. Electronic address: Alexandra.belayew@umons.ac.be.; de Haas R; FSHD Europe, the Netherlands. Electronic address: ria.dehaas@fshd-europe.info.; van Engelen BGM; FSHD Europe, the Netherlands. Electronic address: Baziel.vanEngelen@radboudumc.nl.; Voermans NC; Department of Neurology, Donders Centre for Neuroscience, Radboud University Medical Center, Nijmegen, 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

Smeets HJM; Verbrugge B; Springuel P; Voermans NC; MDC1A Workshop Group: Giulio Cossu; René de Coo; Christos Diamantidis; Eric Dragendorf; Madeleine Durbeej-Hjalt; Gustavo Dziewczapolski; Corrie Erasmus; Reghan Foley; Sweta Girgenrath; Leonardo Zingler Herrero; Dwi Kemaladewi; Andrea Klein; Marie-Julie Lemmens; Lotte van de Loo; Previtali S; Markus Ruegg; Adnan Abdulaziz Said; Maurilio Sampaolesi; Anna Sarkozy; Hemant Sawnani; Dirk Jan Stelwagen; Heleen Stelwagen; Haluk Topaloglu; Florence van Tienen; Peter Yurchenco; Teun van Zutphen

Neuromuscular Disorders, 31, 7, pp. 673-680

Johari M; Harry Perkins Institute of Medical Research, Centre for Medical Research, University of Western Australia, Nedlands, WA, 6009, Australia.; Folland C; Harry Perkins Institute of Medical Research, Centre for Medical Research, University of Western Australia, Nedlands, WA, 6009, Australia.; Saito Y; Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry, Kodaira, Tokyo, 187-8551, Japan.; Oud MM; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, 6525, The Netherlands.; Parmar JM; Harry Perkins Institute of Medical Research, Centre for Medical Research, University of Western Australia, Nedlands, WA, 6009, Australia.; Töpf A; John Walton Muscular Dystrophy Research Centre, NIHR Newcastle Biomedical Research Centre, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne, NE4 5PL, UK.; Kurbatov S; Research Institute of Experimental Biology and Medicine, Voronezh State Medical University named after N.N. Burdenko, Voronezh, 394036, Russian Federation.; Ampleeva M; Independent Clinical Bioinformatics Laboratory, Moscow, Russia.; Zakharova EY; Research Centre for Medical Genetics, Moscow, 115522, Russia.; Chekmareva IA; Federal State Budgetary Institution 'National Medical Research Center of Surgery named after A. Vishnevsky', Ministry of Health of the Russian Federation, Moscow, 117997, Russia.; Shirokova KS; Research Institute of Experimental Biology and Medicine, Voronezh State Medical University named after N.N. Burdenko, Voronezh, 394036, Russian Federation.; Atiakshin D; RUDN University, Moscow, 117198, Russian Federation.; van Beek R; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, 6525, The Netherlands.; Gardeitchik T; Department of Human Genetics, Radboud University Medical Center, Nijmegen 6525 GA, The Netherlands.; Kamsteeg EJ; Department of Human Genetics, Radboudumc, Nijmegen, 6525, The Netherlands.; Medici E; Department of Neurology, Erasmus University Medical Center Rotterdam, 3015, The Netherlands.; Donker Kaat L; Department of Clinical Genetics, Erasmus University Medical Center Rotterdam, 3015, The Netherlands.; Nemoto J; Department of Neurology, Yamaguchi University Graduate School of Medicine, Ube, Yamaguchi, 755-8505, Japan.; Komaki H; Translational Medical Center, National Center of Neurology and Psychiatry, Kodaira, Tokyo, 187-8551, Japan.; Okabe T; Okabe Children's Clinic, Toyama, 939-8211, Japan.; Kimoto Y; Division of Pediatrics, Faculty of Medicine, University of Miyazaki, Miyazaki, 889-1692, Japan.; Tokito T; Tokito Clinic Rheumatology and Orthopedic Surgery, Shimonoseki, Yamaguchi, 752-0976, Japan.; Nakanowatari M; Department of Neurology, Ushioda General Hospital, Yokohama, Kanagawa, 230-0001, Japan.; Oya Y; Department of Neurology, National Center Hospital, National Center of Neurology and Psychiatry, Kodaira, Tokyo, 187-8551, Japan.; Bruels CC; Greg Marzolf Jr. Muscular Dystrophy Center, Department of Neurology, University of Minnesota Medical School, Minneapolis, MN 55455, USA.; Stafki SA; Greg Marzolf Jr. Muscular Dystrophy Center, Department of Neurology, University of Minnesota Medical School, Minneapolis, MN 55455, USA.; Estrella EA; Division of Genetics & Genomics, The Manton Center for Orphan Disease Research, Boston Children's Hospital and Harvard Medical School, Boston, MA 02115, USA.; Littel HR; Greg Marzolf Jr. Muscular Dystrophy Center, Department of Neurology, University of Minnesota Medical School, Minneapolis, MN 55455, USA.; Kunkel LM; Division of Genetics & Genomics, The Manton Center for Orphan Disease Research, Boston Children's Hospital and Harvard Medical School, Boston, MA 02115, USA.; Kang PB; Greg Marzolf Jr. Muscular Dystrophy Center, Department of Neurology, University of Minnesota Medical School, Minneapolis, MN 55455, USA.; Osei-Owusu I; Broad Center for Mendelian Genomics, Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA.; Pais L; Broad Center for Mendelian Genomics, Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA.; O'Leary M; Broad Center for Mendelian Genomics, Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA.; Austin-Tse C; Broad Center for Mendelian Genomics, Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA.; O'Donnell-Luria A; Division of Genetics & Genomics, The Manton Center for Orphan Disease Research, Boston Children's Hospital and Harvard Medical School, Boston, MA 02115, USA.; Broad Center for Mendelian Genomics, Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA.; Mangilog B; Broad Center for Mendelian Genomics, Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA.; Genetti CA; Division of Genetics & Genomics, The Manton Center for Orphan Disease Research, Boston Children's Hospital and Harvard Medical School, Boston, MA 02115, USA.; Valivullah ZM; Broad Center for Mendelian Genomics, Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA.; Radio FC; Molecular Genetics and Functional Genomics, Bambino Gesù Children's Hospital, IRCCS, 00146, Rome, Italy.; D'Amico A; Neuromuscular and neurodegenerative disorders, Bambino Gesù Children's Hospital, IRCCS, 00146, Rome, Italy.; Ciolfi A; Molecular Genetics and Functional Genomics, Bambino Gesù Children's Hospital, IRCCS, 00146, Rome, Italy.; Tartaglia M; Molecular Genetics and Functional Genomics, Bambino Gesù Children's Hospital, IRCCS, 00146, Rome, Italy.; Perrin A; Laboratoire de Génétique Moléculaire, Centre Hospitalier Universitaire de Montpellier, 34093 Montpellier, France.; PhyMedExp, Univ Montpellier, CNRS, INSERM, Montpellier, 34295, France.; Van Goethem C; Laboratoire de Génétique Moléculaire, Centre Hospitalier Universitaire de Montpellier, 34093 Montpellier, France.; Sole G; Neurology and Neuromuscular Diseases Department, Neuromuscular Reference Centre AOC, FILNEMUS, EURO-NMD, Pellegrin Hospital, Bordeaux University Hospitals, Bordeaux, 33000, France.; Martin-Négrier ML; Pathology Department, University Hospital of Bordeaux, France. Univ. Bordeaux, CNRS UMR5293, Bordeaux, 33076, France.; Cossée M; Laboratoire de Génétique Moléculaire, Centre Hospitalier Universitaire de Montpellier, 34093 Montpellier, France.; PhyMedExp, Univ Montpellier, CNRS, INSERM, Montpellier, 34295, France.; Milic Rasic V; Clinic for Neurology and Psychiatry for Children and Youth, Faculty of Medicine, University of Belgrade, Belgrade, 11000, Serbia.; Kovacevic G; Mother and Child Health Care Institute, Faculty of Medicine, University of Belgrade, Belgrade, 11000, Serbia.; Kosac A; Clinic for Neurology and Psychiatry for Children and Youth, Faculty of Medicine, University of Belgrade, Belgrade, 11000, Serbia.; Moreno CAM; Department of Neurology, Faculdade de Medicina da Universidade de São Paulo (FMUSP), São Paulo, 05403-000, Brazil.; Gontijo Camelo C; Department of Neurology, Faculdade de Medicina da Universidade de São Paulo (FMUSP), São Paulo, 05403-000, Brazil.; Zanoteli E; Department of Neurology, Faculdade de Medicina da Universidade de São Paulo (FMUSP), São Paulo, 05403-000, Brazil.; Habib C; Clinical Genetics, Austin Health, Melbourne, VIC, 3084, Australia.; Fahey MC; Department of Paediatrics Monash University, Melbourne, VIC, 3168, Australia.; Beggs AH; Division of Genetics & Genomics, The Manton Center for Orphan Disease Research, Boston Children's Hospital and Harvard Medical School, Boston, MA 02115, USA.; Broad Center for Mendelian Genomics, Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA.; Poulsen NS; Copenhagen Neuromuscular Center, Rigshospitalet, University of Copenhagen, Copenhagen, 2100, Denmark.; Vissing J; Copenhagen Neuromuscular Center, Rigshospitalet, University of Copenhagen, Copenhagen, 2100, Denmark.; Straub V; John Walton Muscular Dystrophy Research Centre, NIHR Newcastle Biomedical Research Centre, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne, NE4 5PL, UK.; Savarese M; Folkhälsan Research Center, Helsinki, 00290, Finland.; Tasca G; John Walton Muscular Dystrophy Research Centre, NIHR Newcastle Biomedical Research Centre, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne, NE4 5PL, UK.; Voermans NC; Department of Neurology, Donders Institute for Brain, Cognition and Behaviour, Amalia Children's Hospital, Radboud University Medical Centre, Nijmegen, 6525, The Netherlands.; Laing NG; Harry Perkins Institute of Medical Research, Centre for Medical Research, University of Western Australia, Nedlands, WA, 6009, Australia.; Udd B; Folkhälsan Research Center, Helsinki, 00290, Finland.; Nishino I; Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry, Kodaira, Tokyo, 187-8551, Japan.; Ravenscroft G; Harry Perkins Institute of Medical Research, Centre for Medical Research, University of Western Australia, Nedlands, WA, 6009, Australia.

Publisher: Oxford University Press Country of Publication: England NLM ID: 0372537 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1460-2156 (Electronic) Linking ISSN: 00068950 NLM ISO Abbreviation: Brain Subsets: MEDLINE

Draaisma JMT; Department of Pediatrics, Radboud Institute for Health Sciences, Radboud University Medical Center Amalia Children's Hospital, Nijmegen, the Netherlands.; Reintjes W; Department of Neurology, Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Center, Nijmegen, the Netherlands.; Leenders E; Department of Human Genetics, Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Center, Nijmegen, the Netherlands.; Draaisma F; Department of Pediatrics, Radboud Institute for Health Sciences, Radboud University Medical Center Amalia Children's Hospital, Nijmegen, the Netherlands.; Burgers M; Department of Pediatrics, Radboud Institute for Health Sciences, Radboud University Medical Center Amalia Children's Hospital, Nijmegen, the Netherlands.; Kleimeier L; Department of Pediatrics, Radboud Institute for Health Sciences, Radboud University Medical Center Amalia Children's Hospital, Nijmegen, the Netherlands.; Tartaglia M; Molecular Genetics and Functional Genomics, Ospedale Pediatrico Bambino Gesù, IRCCS, Rome, Italy.; Klaassens M; Department of Pediatrics, Maastricht University Medical Center (MUMC+), Maastricht, the Netherlands.; Becks R; Department of Medical Imaging, Radboud University Medical Center, Nijmegen, the Netherlands.; Renes S; Department of Anesthesiology, University Medical Center Nijmegen, Nijmegen, the Netherlands.; Wingbermühle E; Department of Human Genetics, Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Center, Nijmegen, the Netherlands.; Center of Excellence for Neuropsychiatry, Vincent Van Gogh Institute for Psychiatry, Venray, the Netherlands.; Voermans NC; Department of Neurology, Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Center, Nijmegen, the Netherlands.; van Alfen N; Department of Neurology, Clinical Neuromuscular Imaging Group, Donders Institute for Brain, Cognition and Behavior, Radboud University Nijmegen Medical Center, Nijmegen, the Netherlands.

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

He M; Department of Pharmacology and Physiology, University of Rochester Medical Center, University of Rochester, 601 Elmwood Avenue, Rochester, NY, 14642, USA.; Riazi S; Department of Anesthesia and Pain Management, Malignant Hyperthermia Investigation Unit, University Health Network, University of Toronto, Toronto, Canada.; van den Bersselaar LR; Malignant Hyperthermia Investigation Unit, Canisius Wilhelmina Hospital, Nijmegen, The Netherlands.; Islander G; Department of Clinical Sciences, Lund University, Lund, Sweden.; Gillies R; Department of Anaesthesia and Pain Management, The Royal Melbourne Hospital, Parkville, VIC, Australia.; Hellblom A; Department of Intensive and Perioperative Medicine, Skane University Hospital, Lund, Sweden.; Voermans NC; Department of Neurology, Donders Institute for Brain, Cognition and Behaviour, Radboud University, Nijmegen, The Netherlands.; Temurziev S; MH Research Unit, University of Antwerp, Antwerp University Hospital, Edegem, Belgium.; Jungbluth H; Randall Centre for Cell and Molecular Biophysics, Muscle Signalling Section, Faculty of Life Sciences and Medicine, King's College London, London, UK.; Department of Paediatric Neurology, Neuromuscular Service, Evelina London Children's Hospital, Guy's & St. Thomas' Hospital NHS Foundation Trust, London, UK.; Dirksen RT; Department of Pharmacology and Physiology, University of Rochester Medical Center, University of Rochester, 601 Elmwood Avenue, Rochester, NY, 14642, USA. robert_dirksen@urmc.rochester.edu.

Publisher: BioMed Central Ltd Country of Publication: England NLM ID: 101561193 Publication Model: Electronic Cited Medium: Internet ISSN: 2044-5040 (Electronic) Linking ISSN: 20445040 NLM ISO Abbreviation: Skelet Muscle Subsets: MEDLINE

van den Bersselaar LR; Department of Anesthesiology, Pain and Palliative Medicine, Radboud University Medical Center, Nijmegen, The Netherlands; Malignant Hyperthermia Investigation Unit, Department of Anesthesiology, Canisius Wilhelmina Hospital, Nijmegen, The Netherlands. Electronic address: luuk.vandenbersselaar@radboudumc.nl.; Schiemann AH; School of Natural Sciences, Massey University, Palmerston North, New Zealand.; Yang CY; Malignant Hyperthermia Investigation Unit, Department of Anesthesiology, Canisius Wilhelmina Hospital, Nijmegen, The Netherlands.; Voermans NC; Department of Neurology, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands.; Malagon I; Department of Anesthesiology, Pain and Palliative Medicine, Radboud University Medical Center, Nijmegen, The Netherlands.; Scheffer GJ; Department of Anesthesiology, Pain and Palliative Medicine, Radboud University Medical Center, Nijmegen, The Netherlands.; Bjorksten AR; Malignant Hyperthermia Diagnostic Unit, Department of Anaesthesia and Pain Management, Royal Melbourne Hospital, Parkville, VIC, Australia.; Gillies R; Malignant Hyperthermia Diagnostic Unit, Department of Anaesthesia and Pain Management, Royal Melbourne Hospital, Parkville, VIC, Australia.; Hellblom A; Department of Intensive and Perioperative Care, Skane University Hospital, Lund, Sweden; Division of Clinical Genetics, Department of Laboratory Medicine, Lund University, Lund, Sweden.; Kamsteeg EJ; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.; Snoeck MMJ; Malignant Hyperthermia Investigation Unit, Department of Anesthesiology, Canisius Wilhelmina Hospital, Nijmegen, The Netherlands.; Stowell KM; School of Natural Sciences, Massey University, Palmerston North, New Zealand.

Publisher: Elsevier Country of Publication: England NLM ID: 0372541 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1471-6771 (Electronic) Linking ISSN: 00070912 NLM ISO Abbreviation: Br J Anaesth Subsets: MEDLINE

Vincenten SCC; Department of Neurology, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands; Clinical Neuromuscular Imaging Group, Radboud University Medical Center, Nijmegen, The Netherlands. Electronic address: sanne.vincenten@radboudumc.nl.; Voermans NC; Department of Neurology, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands.; Cameron D; Clinical Neuromuscular Imaging Group, Radboud University Medical Center, Nijmegen, The Netherlands; Department of Medical Imaging, 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.; van Alfen N; Department of Neurology, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands; Clinical Neuromuscular Imaging Group, Radboud University Medical Center, Nijmegen, The Netherlands.; Mul K; Department of Neurology, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands.

Publisher: Elsevier Country of Publication: Netherlands NLM ID: 100883319 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1872-8952 (Electronic) Linking ISSN: 13882457 NLM ISO Abbreviation: Clin Neurophysiol Subsets: MEDLINE

Stinissen L; Department of Neurology, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, P.O. Box 9101, 6500 HB, Nijmegen, The Netherlands.; Kools J; Department of Neurology, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, P.O. Box 9101, 6500 HB, Nijmegen, The Netherlands.; Bouma S; Department of Neurology, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, P.O. Box 9101, 6500 HB, Nijmegen, The Netherlands.; Lenssen E; Clinical Research Unit, Radboudumc, Nijmegen, The Netherlands.; Sanders E; Clinical Research Unit, Radboudumc, Nijmegen, The Netherlands.; Lanser A; Dutch FSHD patient advocacy group, Wassenaar, The Netherlands.; de Haas R; FSHD Europe, Den Haag, The Netherlands.; van Engelen BG; Department of Neurology, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, P.O. Box 9101, 6500 HB, Nijmegen, The Netherlands.; Oortwijn W; Research Institute for Medical Innovation, Science department IQ Health, Radboud University Medical Center, P.O. Box 9101, 6500 HB, Nijmegen, The Netherlands.; Voermans NC; Department of Neurology, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, P.O. Box 9101, 6500 HB, Nijmegen, The Netherlands.

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

van Gurp JE; Department of Clinical Genetics, Erasmus MC, University Medical Center, Rotterdam, the Netherlands.; Lechner RL; Department of Clinical Genetics, Erasmus MC, University Medical Center, Rotterdam, the Netherlands.; Micha D; Department of Human Genetics, Amsterdam Reproduction and Development, Amsterdam Movement Sciences, Amsterdam UMC, Vrije Universiteit Amsterdam, Amsterdam, the Netherlands.; Maugeri A; Department of Human Genetics, Amsterdam Reproduction and Development, Amsterdam Movement Sciences, Amsterdam UMC, Vrije Universiteit Amsterdam, Amsterdam, the Netherlands.; Dulfer E; Department of Genetics, University Medical Center Groningen, Groningen, the Netherlands.; van Dijk FS; National Ehlers Danlos Syndrome Service, London North West University Healthcare NHS Trust, Harrow, London, UK.; Department of Metabolism, Digestion and Reproduction, Section Genomics & Genetics, Imperial, London, UK.; Keszthelyi D; Department of Gastroenterology-Hepatology, Maastricht University Medical Center, Maastricht, the Netherlands.; Malfatti E; APHP, Centre de Référence de Pathologie Neuromusculaire Nord-Est-Ile-de-France, Henri Mondor Hospital, University Paris-Est, Créteil, France.; Kubo A; Department of Dermatology, Keio University School of Medicine, Tokyo, Japan.; Voermans NC; Department of Neurology, Radboud University Medical Centre, Nijmegen, the Netherlands .; Demirdas S; Department of Clinical Genetics, Erasmus MC, University Medical Center, Rotterdam, the Netherlands.

Publisher: Wolters Kluwer Health Country of Publication: United States NLM ID: 101532142 Publication Model: Electronic Cited Medium: Internet ISSN: 2155-384X (Electronic) Linking ISSN: 2155384X NLM ISO Abbreviation: Clin Transl Gastroenterol Subsets: MEDLINE

Costa-Comellas L; Pediatric Neuromuscular Disorders Unit, Pediatric Neurology Department, Vall D'hebron Barcelona Hospital Campus, Barcelona, Spain.; Department of Pediatrics, Autonomous University of Barcelona, Barcelona, Spain.; Pediatric Neurology Research Group, Vall D'hebron Research Institute (VHIR), Barcelona, Spain.; Monforte M; Unità Operativa Complessa di Neurologia, Fondazione Policlinico Universitario A. Gemelli IRCCS, Rome, Italy.; Sanchez-Montañez A; Pediatric Neuroradiology Unit, Radiology Department, Vall D'hebron University Hospital, Barcelona, Spain.; Romero-Duque P; Pediatric Neurology Research Group, Vall D'hebron Research Institute (VHIR), Barcelona, Spain.; Pegoraro E; Department of Neurological and Psychiatric Sciences, University of Padova, Padova, Italy.; Díaz-Manera J; John Walton Muscular Dystrophy Research Centre, NIHR Newcastle Biomedical Research Centre, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle Upon Tyne, UK.; Neuromuscular Diseases Unit, Foundation of the Hospital de la Santa Creu i Sant Pau Research Institute, Barcelona, Spain.; Biomedical Network Research Centre on Rare Diseases (CIBERER), Madrid, Spain.; Vlodavets D; Russian Children Neuromuscular Center, Veltischev Clinical Pediatrics and Pediatric Surgery, Research Institute of Pirogov Russian National Research Medical University, Moscow, Russia.; Maggi L; Neuroimmunology and Neuromuscular Disease Unit, Fondazione IRCCS Istituto Carlo Besta, Milano, Italy.; Moscatelli M; Neuroradiology Unit, Fondazione IRCCS Istituto Carlo Besta, Milano, Italy.; D'Amico A; Neuromuscular and Neurodegenerative Disorders Unit, Department of Neurosciences, Bambino Gesu' Children's Hospital IRCCS, Roma, Italy.; Olivé M; Neuromuscular Diseases Unit, Foundation of the Hospital de la Santa Creu i Sant Pau Research Institute, Barcelona, Spain.; Biomedical Network Research Centre on Rare Diseases (CIBERER), Madrid, Spain.; Neuromuscular Diseases Unit, Department of Neurology, Hospital de la Santa Creu i Sant Pau, Barcelona, Spain.; Alonso-Pérez J; Neuromuscular Diseases Unit, Department of Neurology, Hospital de la Santa Creu i Sant Pau, Barcelona, Spain.; Neuromuscular Disorders Unit, Neurology Department, Hospital Universitario Nuestra Senora de la Candelaria, Santa Cruz de Tenerife, Spain.; Fundación Canaria Instituto de Investigación Sanitaria de Canarias, Las Palmas de Gran Canaria, Spain.; Comi G; Neurology Unit, Fondazione IRCCS ca' Granda Ospedale Maggiore Policlinico, Milan, Italy.; Department of Pathophysiology and Transplantation (DEPT), Dino Ferrari Centre, Milan, Italy.; University of Milan, Milan, Italy.; Escudero-Fernández JM; Pediatric Neuroradiology Unit, Radiology Department, Vall D'hebron University Hospital, Barcelona, Spain.; Urcuyo GS; Pediatric Neurology Research Group, Vall D'hebron Research Institute (VHIR), Barcelona, Spain.; Pichiecchio A; Department of Brain and Behavioural Sciences, University of Pavia, Pavia, Italy.; Neuroradiology Department, Advanced Imaging Center, IRCCS Mondino Foundation, Pavia, Italy.; Berardinelli A; Child Neurology and Psychiatry Unit, RCCS Mondino Foundation, Pavia, Italy.; Claeys KG; Department of Neurology, University Hospitals Leuven and Laboratory for Muscle Diseases and Neuropathies, Department of Neurosciences, KU Leuven, Leuven, Belgium.; Bruno C; Center of Translational and Experimental Myology, IRCCS Istituto Giannina Gaslini, Genova, Italy.; Department of Neuroscience, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DINOGMI), University of Genova, Genova, Italy.; Panicucci C; Center of Translational and Experimental Myology, IRCCS Istituto Giannina Gaslini, Genova, Italy.; Department of Neuroscience, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DINOGMI), University of Genova, Genova, Italy.; Bortolani S; Unità Operativa Complessa di Neurologia, Fondazione Policlinico Universitario A. Gemelli IRCCS, Rome, Italy.; Torchia E; Unità Operativa Complessa di Neurologia, Fondazione Policlinico Universitario A. Gemelli IRCCS, Rome, Italy.; Institute of Neuroscience, Università Cattolica del Sacro Cuore (UCSC), Rome, Italy.; Ricci E; Unità Operativa Complessa di Neurologia, Fondazione Policlinico Universitario A. Gemelli IRCCS, Rome, Italy.; Institute of Neuroscience, Università Cattolica del Sacro Cuore (UCSC), Rome, Italy.; Monges S; Department of Neurology, 'Prof. Dr. Juan P. Garrahan' Pediatric Hospital, Combate de los Pozos, Buenos Aires, Argentina.; Bevilacqua JA; Neuromuscular Unit, Neurology and Neurosurgery Department, University of Chile Clinical Hospital, Santiago de Chile, Chile.; Neurology and Neurosurgery Department, Clínica Dávila, Santiago, Chile.; Diaz-Jara J; Radiology Department, University of Chile Clinical Hospital, Santiago de Chile, Chile.; Walter MC; Department of Neurology, Friedrich-Baur-Institut, LMU Hospital, Ludwig-Maximilians-University, Munich, Germany.; Thiele S; Department of Neurology, Friedrich-Baur-Institut, LMU Hospital, Ludwig-Maximilians-University, Munich, Germany.; Løkken N; Copenhagen Neuromuscular Center, Department of Neurology, Rigshospitalet, University of Copenhagen, Copenhagen, Denmark.; Vissing J; Copenhagen Neuromuscular Center, Department of Neurology, Rigshospitalet, University of Copenhagen, Copenhagen, Denmark.; Quijano-Roy S; Neuromuscular Unit, Child Neurology and ICU Department, University Hospital Raymond-Poincaré APHP, GH Université Paris-Saclay, Garches, France.; University of Versailles Saint-Quentin-En-Yvelines, INSERM-UVSQ, Versailles, France.; Carlier RY; DMU Smart Imaging, Medical Imaging Department, University Hospital Raymond-Poincaré APHP, GH Université Paris-Saclay, Garches, France.; Voermans NC; Department of Neurology, Radboud University, Nijmegen, the Netherlands.; Marini-Bettolo C; John Walton Muscular Dystrophy Research Centre, NIHR Newcastle Biomedical Research Centre, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle Upon Tyne, UK.; Guglieri M; John Walton Muscular Dystrophy Research Centre, NIHR Newcastle Biomedical Research Centre, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle Upon Tyne, UK.; Straub V; John Walton Muscular Dystrophy Research Centre, NIHR Newcastle Biomedical Research Centre, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle Upon Tyne, UK.; Leonardis L; Institute of Clinical Neurophysiology, University Medical Centre Ljubljana, Ljubljana, Slovenia.; Department of Neurology, Faculty of Medicine, University of Ljubljana, Ljubljana, Slovenia.; Munell F; Pediatric Neuromuscular Disorders Unit, Pediatric Neurology Department, Vall D'hebron Barcelona Hospital Campus, Barcelona, Spain.; Department of Pediatrics, Autonomous University of Barcelona, Barcelona, Spain.; Pediatric Neurology Research Group, Vall D'hebron Research Institute (VHIR), Barcelona, Spain.; Gómez-Andrés D; Pediatric Neuromuscular Disorders Unit, Pediatric Neurology Department, Vall D'hebron Barcelona Hospital Campus, Barcelona, Spain.; Department of Pediatrics, Autonomous University of Barcelona, Barcelona, Spain.; Pediatric Neurology Research Group, Vall D'hebron Research Institute (VHIR), Barcelona, Spain.; Tasca G; Unità Operativa Complessa di Neurologia, Fondazione Policlinico Universitario A. Gemelli IRCCS, Rome, Italy.; John Walton Muscular Dystrophy Research Centre, NIHR Newcastle Biomedical Research Centre, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle Upon Tyne, UK.

Publisher: Wiley Periodicals, Inc on behalf of American Neurological Association Country of Publication: United States NLM ID: 101623278 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2328-9503 (Electronic) Linking ISSN: 23289503 NLM ISO Abbreviation: Ann Clin Transl Neurol Subsets: MEDLINE

Möller B; Department of Pediatrics, Faculty of Medicine, University Hospital Cologne, University of Cologne, 50937 Cologne, Germany.; Becker LL; Department of Pediatric Neurology, Charité-Universitätsmedizin Berlin, 13353 Berlin, Germany.; Center for Chronically Sick Children, Charité-Universitätsmedizin Berlin, 13353 Berlin, Germany.; Institute for Cell Biology and Neurobiology, Charité-Universitätsmedizin Berlin, 13353 Berlin, Germany.; Saffari A; Heidelberg University, Medical Faculty Heidelberg, University Hospital Heidelberg, Center for Pediatrics and Adolescent Medicine, Department of Pediatrics I, Division of Child Neurology and Metabolic Medicine, 69120 Heidelberg, Germany.; Afenjar A; Reference Center for Malformations and Congenital Diseases of the Cerebellum and Intellectual Disabilities of Rare Causes, Department of Genetics and Medical Embryology, Sorbonne University, Trousseau Hospital Paris, 75012 Paris, France.; Coci EG; Department of Paediatrics, Otto-von-Guericke-University Magdeburg, 39120 Magdeburg, Germany.; Department of Clinical Genetics, Copenhagen University Hospital Rigshospitalet, 2100 Copenhagen, Denmark.; Williamson R; Akron Children's Hospital Genetic Center, Akron, OH 44308, USA.; Ward-Melver C; Akron Children's Hospital Genetic Center, Akron, OH 44308, USA.; Gibaud M; Service de pédiatrie, CHU de Nantes, 44000 Nantes, France.; Sedláčková L; Neurogenetic Laboratory, Department of Pediatric Neurology, Second Faculty of Medicine, Charles University in Prague and Motol University Hospital, Full Member of the ERN EpiCARE, 150 06 Prague, Czech Republic.; Laššuthová P; Neurogenetic Laboratory, Department of Pediatric Neurology, Second Faculty of Medicine, Charles University in Prague and Motol University Hospital, Full Member of the ERN EpiCARE, 150 06 Prague, Czech Republic.; Libá Z; Department of Pediatric Neurology, Second Faculty of Medicine, Charles University in Prague and Motol University Hospital, Full Member of the ERN EpiCARE, 150 06 Prague, Czech Republic.; Vlčková M; Department of Biology and Medical Genetics, Second Faculty of Medicine, Charles University in Prague and Motol University Hospital, Full Member of the ERN EpiCARE, 150 06 Prague, Czech Republic.; William N; Center for Individualized Medicine, Mayo Clinic, Rochester, MN 55901, USA.; Klee EW; Departments of Clinical Genomics and Neurology, Mayo Clinic, Rochester, MN 55905, USA.; Gavrilova RH; Departments of Clinical Genomics and Neurology, Mayo Clinic, Rochester, MN 55905, USA.; Lévy J; Genetics Department, AP-HP, Robert-Debré University Hospital, 75019 Paris, France.; Capri Y; Genetics Department, AP-HP, Robert-Debré University Hospital, 75019 Paris, France.; Scavina M; Division of Neurology, Nemours Children's Health, Wilmington, Delaware 19803, USA.; Körner RW; Department of Pediatrics, Faculty of Medicine, University Hospital Cologne, University of Cologne, 50937 Cologne, Germany.; Valivullah Z; Center for Mendelian Genomics, Broad Institute Harvard, Cambridge, MA 02142, USA.; Weiß C; Department of Pediatric Neurology, Charité-Universitätsmedizin Berlin, 13353 Berlin, Germany.; Center for Chronically Sick Children, Charité-Universitätsmedizin Berlin, 13353 Berlin, Germany.; Möller GM; Berlin University of Applied Sciences and Technology, 10587 Berlin, Germany.; Frazier Z; Department of Neurology, Rosamund Stone Zander Translational Neuroscience Center, Boston Children's Hospital, Boston, MA 02115, USA.; Roberts A; Center for Cardiovascular Genetics, Boston Children's Hospital, Boston, MA 02115, USA.; Gener B; Department of Genetics, Cruces University Hospital, Biobizkaia Health Research Institute, Barakaldo 48903, Spain.; Scala M; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa, 16147 Genoa, Italy.; U.O.C. Genetica Medica, IRCCS Istituto Giannina Gaslini, 16147 Genoa, Italy.; Striano P; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa, 16147 Genoa, Italy.; Pediatric Neurology and Muscular Diseases Unit, IRCCS Giannina Gaslini Institute, 16147 Genoa, Italy.; Zara F; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa, 16147 Genoa, Italy.; U.O.C. Genetica Medica, IRCCS Istituto Giannina Gaslini, 16147 Genoa, Italy.; Thiel M; Department of Pediatrics, Faculty of Medicine, University Hospital Cologne, University of Cologne, 50937 Cologne, Germany.; Sinnema M; Department of Clinical Genetics, Maastricht University Medical Center, 6229 HX Maastricht, The Netherlands.; Kamsteeg EJ; Radboud University Medical Center, 6525 GA Nijmegen, The Netherlands.; Donkervoort S; Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke Neurogenetics Branch, National Institutes of Health, Bethesda, MD 20892, USA.; Duboc V; Department of Medical Genetics, Université Côte D'Azur, Centre Hospitalier Universitaire Nice, 06000 Nice, France.; Zaafrane-Khachnaoui K; Department of Medical Genetics, Université Côte D'Azur, Centre Hospitalier Universitaire Nice, 06000 Nice, France.; Elkhateeb N; Department of Clinical Genetics, Cambridge University Hospitals NHS Trust, Cambridge CB2 3EH, UK.; Department of Pediatrics, Pediatric Neurology and Metabolic Medicine unit, Kasr Al-Ainy School of Medicine, Cairo University, 4390330 Cairo, Egypt.; Selim L; Department of Pediatrics, Pediatric Neurology and Metabolic Medicine unit, Kasr Al-Ainy School of Medicine, Cairo University, 4390330 Cairo, Egypt.; Margot H; Department of Medical Genetics, University Hospital of Bordeaux, 33076 Bordeaux, France.; Marin V; Department of Medical Genetics, University Hospital of Bordeaux, 33076 Bordeaux, France.; Beneteau C; Department of Medical Genetics, University Hospital of Bordeaux, 33076 Bordeaux, France.; Isidor B; Genetics Department, Nantes University, CHU de Nantes, 44000 Nantes, France.; Cogne B; Genetics Department, Nantes University, CHU de Nantes, 44000 Nantes, France.; Keren B; Genetic Department, Pitié-Salpêtrière Hospital, AP-HP, Sorbonne University, 75013 Paris, France.; Küsters B; Department of Pathology, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, 6525 GA Nijmegen, The Netherlands.; Beggs AH; Division of Genetics and Genomics, Manton Center for Orphan Disease Research, Boston Children's Hospital, Harvard Medical School, Boston, MA 02445, USA.; Sveden A; Department of Neurology, Rosamund Stone Zander Translational Neuroscience Center, Boston Children's Hospital, Boston, MA 02115, USA.; Chopra M; Department of Neurology, Rosamund Stone Zander Translational Neuroscience Center, Boston Children's Hospital, Boston, MA 02115, USA.; Genetti CA; Division of Genetics and Genomics, Manton Center for Orphan Disease Research, Boston Children's Hospital, Harvard Medical School, Boston, MA 02445, USA.; Nicolai J; Department of Neurology, Maastricht University Medical Center, 6229 HX Maastricht, The Netherlands.; Dötsch J; Department of Pediatrics, Faculty of Medicine, University Hospital Cologne, University of Cologne, 50937 Cologne, Germany.; Center for Rare Diseases, Faculty of Medicine, University Hospital Cologne, University of Cologne, 50937 Cologne, Germany.; Koy A; Department of Pediatrics, Faculty of Medicine, University Hospital Cologne, University of Cologne, 50937 Cologne, Germany.; Center for Rare Diseases, Faculty of Medicine, University Hospital Cologne, University of Cologne, 50937 Cologne, Germany.; Bönnemann CG; Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke Neurogenetics Branch, National Institutes of Health, Bethesda, MD 20892, USA.; von der Hagen M; Department of Neuropediatrics, Medical Faculty Carl Gustav Carus, Technische Universität Dresden, 01307  Dresden, Germany.; von Kleist-Retzow JC; Department of Pediatrics, Faculty of Medicine, University Hospital Cologne, University of Cologne, 50937 Cologne, Germany.; Center for Rare Diseases, Faculty of Medicine, University Hospital Cologne, University of Cologne, 50937 Cologne, Germany.; Voermans NC; The Department of Neurology, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Centre, 6525 Nijmegen, The Netherlands.; Jungbluth H; Department of Paediatric Neurology-Neuromuscular Service, Evelina Children's Hospital, Guy's & St Thomas' NHS Foundation Trust, London SE1 7EH, UK.; Randall Centre for Cell and Molecular Biophysics, Muscle Signalling Section, Faculty of Life Sciences and Medicine (FoLSM), King's College London, London SE1 1YR, UK.; Dafsari HS; Department of Pediatrics, Faculty of Medicine, University Hospital Cologne, University of Cologne, 50937 Cologne, Germany.; Center for Rare Diseases, Faculty of Medicine, University Hospital Cologne, University of Cologne, 50937 Cologne, Germany.; Department of Paediatric Neurology-Neuromuscular Service, Evelina Children's Hospital, Guy's & St Thomas' NHS Foundation Trust, London SE1 7EH, UK.; Randall Centre for Cell and Molecular Biophysics, Muscle Signalling Section, Faculty of Life Sciences and Medicine (FoLSM), King's College London, London SE1 1YR, UK.; Max-Planck-Institute for Biology of Ageing, 50931 Cologne, Germany.; Cologne Excellence Cluster on Cellular Stress Responses in Aging Associated Diseases (CECAD), 50931 Cologne, Germany.

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

Kools J; Department of Neurology, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands.; Vincenten S; Department of Neurology, Donders Institute for Brain, Cognition and Behaviour, 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.; Voet NBM; Klimmendaal, Rehabilitation Center, Arnhem, The Netherlands.; Department of Rehabilitation, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands.; Merkies I; Department of Neurology, Maastricht University Medical Center+, Maastricht, The Netherlands.; Department of Neurology, Curaçao Medical Center, Willemstad, Curaçao.; Horlings CGC; Department of Neurology, Medical University of Innsbruck, Innsbruck, Austria.; Voermans NC; Department of Neurology, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands.; Mul K; Department of Neurology, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands.

Publisher: John Wiley & Sons Country of Publication: United States NLM ID: 7803146 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1097-4598 (Electronic) Linking ISSN: 0148639X NLM ISO Abbreviation: Muscle Nerve Subsets: MEDLINE

de Laat ECM; Department of Neurology, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands.; Houwen-van Opstal SLS; Department of Rehabilitation, Donders Institute for Brain, Cognition and Behaviour, 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 Pediatric Neurology, Donders Institute for Brain, Cognition and Behaviour, Amalia Children's Hospital, Radboud University Medical Center, Nijmegen, The Netherlands.; van Doorn JLM; Department of Neurology, Clinical Neuromuscular Imaging Group, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands.; Cameron D; Department of Radiology, Clinical Neuromuscular Imaging Group, Radboud University Medical Center, Nijmegen, The Netherlands.; van Alfen N; Department of Neurology, Clinical Neuromuscular Imaging Group, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands.; Dittrich ATM; Department of Pediatrics, Radboud University Medical Center, Radboud Institute for Health Sciences, Amalia Children's Hospital, Nijmegen, The Netherlands.; Kamsteeg EJ; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.; Smeets HJM; Department of Toxicogenomics, Research Institutes MHeNS and GROW, Maastricht University, Maastricht, The Netherlands.; Groothuis JT; Department of Rehabilitation, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Amalia Children's Hospital, 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. nicol.voermans@radboudumc.nl.

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; PubMed not MEDLINE