부산대학교 도서관

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

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

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

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

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

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

Voermans, NC; Petersson, KM; Daudey, L; Weber, B; Van, Spaendonck KP; Kremer, HPH; Fernández, G

NEURON. 43(3):427-435

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: PubMed not MEDLINE; MEDLINE

Kruijt N; Department of Neurology, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands.; Department of Primary and Community Care, Radboud University Medical Center, Nijmegen, The Netherlands.; van de Camp SAJH; Department of Neurology, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands.; Hopman MTE; Department of Medical Biosciences, Radboud University Medical Center, Nijmegen, The Netherlands.; van den Bersselaar LR; Malignant Hyperthermia Investigation Unit, Department of Anesthesiology, Canisius Wilhelmina Hospital, Nijmegen, The Netherlands.; Department of Anesthesiology, Pain and Palliative Medicine, Radboud University Medical Center, Nijmegen, The Netherlands.; Jungbluth H; Department of Paediatric Neurology, Neuromuscular Service, Evelina London Children's Hospital, Guy's and St Thomas' Hospital NHS Foundation Trust, London, UK.; Randall Centre for Cell and Molecular Biophysics, Muscle Signalling Section, Faculty of Life Sciences and Medicine (FoLSM), King's College London, London, UK.; Eijsvogels TMH; Department of Medical Biosciences, 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.; Bongers CCWG; Department of Medical Biosciences, Radboud University Medical Center, Nijmegen, The Netherlands.; School of Sports and Exercise, HAN University of Applied Sciences, Nijmegen, The Netherlands.

Publisher: Taylor & Francis Country of Publication: United States NLM ID: 101655855 Publication Model: eCollection Cited Medium: Print ISSN: 2332-8940 (Print) Linking ISSN: 23328940 NLM ISO Abbreviation: Temperature (Austin) Subsets: PubMed not MEDLINE

Damen MJ; Department of Neurology, Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Center, Nijmegen, The Netherlands.; Department of Neurology, Medisch Spectrum Twente, Enschede, The Netherlands.; Mul K; Department of Neurology, Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Center, Nijmegen, The Netherlands.; van Engelen BGM; Department of Neurology, Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Center, Nijmegen, The Netherlands.; Voermans NC; Department of Neurology, Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Center, Nijmegen, The Netherlands.; Tieleman AA; Department of Neurology, Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Center, Nijmegen, The Netherlands.

Publisher: Taylor & Francis Country of Publication: England NLM ID: 9207179 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1464-5165 (Electronic) Linking ISSN: 09638288 NLM ISO Abbreviation: Disabil Rehabil Subsets: MEDLINE

Augustinus R; Department of Human Genetics, Leiden University Medical Center, Leiden.; Voet N; Department of Rehabilitation, Donders Institute for Brain, Cognition and Behaviour, Amalia Children's Hospital, Radboud University Medical Centre, Nijmegen.; de Greef JC; Department of Human Genetics, Leiden University Medical Center, Leiden.; Voermans NC; Klimmendaal, Rehabilitation Center, Arnhem.; Department of Neurology, Donders Institute for Brain, Cognition and Behaviour, Amalia Children's Hospital, Radboud University Medical Centre, Nijmegen, The Netherlands.

Publisher: Lippincott Williams & Wilkins Country of Publication: England NLM ID: 9319162 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1473-6551 (Electronic) Linking ISSN: 13507540 NLM ISO Abbreviation: Curr Opin Neurol Subsets: MEDLINE

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

Vincenten SCC; Department of Neurology, Clinical Neuromuscular Imaging Group, Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Center, Nijmegen, The Netherlands.; van Doorn JLM; Department of Neurology, Clinical Neuromuscular Imaging Group, Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Center, Nijmegen, The Netherlands.; Teeselink S; Department of Neurology, Clinical Neuromuscular Imaging Group, Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Center, Nijmegen, The Netherlands.; Rasing NB; Department of Neurology, Clinical Neuromuscular Imaging Group, Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Center, Nijmegen, The Netherlands.; Padberg GW; Department of Neurology, Clinical Neuromuscular Imaging Group, Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Center, Nijmegen, The Netherlands.; Voermans NC; Department of Neurology, Clinical Neuromuscular Imaging Group, Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Center, Nijmegen, The Netherlands.; van Engelen BGM; Department of Neurology, Clinical Neuromuscular Imaging Group, 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 Medical Center, Nijmegen, The Netherlands.; Mul K; Department of Neurology, Clinical Neuromuscular Imaging Group, Donders Institute for Brain, Cognition and Behavior, 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