부산대학교 도서관

Bullivant J; The John Walton Muscular Dystrophy Research Centre, Translational and Clinical Research Institute, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK.; Sen A; The John Walton Muscular Dystrophy Research Centre, Translational and Clinical Research Institute, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK.; Page J; The John Walton Muscular Dystrophy Research Centre, Translational and Clinical Research Institute, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK.; Graham RJ; Department of Anesthesiology, Critical Care and Pain Medicine, Boston Children's Hospital, Boston, United States.; Jungbluth H; Department of Paediatric Neurology - Neuromuscular Service, Evelina Children's Hospital, Guy's & St Thomas' NHS Foundation Trust, London, United Kingdom; Randall Centre for Cell and Molecular Biophysics, Muscle Signalling Section, Faculty of Life Sciences and Medicine (FoLSM), King's College London, London, United Kingdom.; Schara-Schmidt U; Department of Pediatric Neurology, Developmental Neurology and Social Pediatrics, University of Duisburg-Essen, Essen, Germany.; Lynch O; Independent Patient Representative.; Bönnemann C; National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, United States.; Hollander AD; ZNM - Zusammen Stark! E.v., Stuttgart, Germany.; Lennox A; Myotubular Trust, London, United Kingdom.; Moat D; The John Walton Muscular Dystrophy Research Centre, Translational and Clinical Research Institute, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK.; Saegert C; Independent Patient Representative.; Amburgey K; Division of Neurology, Program for Genetics and Genome Biology, Hospital for Sick Children, Toronto, Canada.; Buj-Bello A; Genethon, Evry 91000, France; Université Paris-Saclay, Univ Evry, Inserm, Genethon, Integrare research unit UMR_S951, Evry 91000, France.; Dowling JJ; Division of Neurology, Program for Genetics and Genome Biology, Hospital for Sick Children, Toronto, Canada.; Marini-Bettolo C; The John Walton Muscular Dystrophy Research Centre, Translational and Clinical Research Institute, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK. Electronic address: chiara.marini-bettolo@newcastle.ac.uk.

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

Bouchatta O; Center for Social and Affective Neuroscience, Linköping University, Linköping, Sweden.; These authors contributed equally.; Brodzki M; Center for Social and Affective Neuroscience, Linköping University, Linköping, Sweden.; These authors contributed equally.; Manouze H; Center for Social and Affective Neuroscience, Linköping University, Linköping, Sweden.; Carballo GB; Center for Social and Affective Neuroscience, Linköping University, Linköping, Sweden.; Kindström E; Center for Social and Affective Neuroscience, Linköping University, Linköping, Sweden.; de-Faria FM; Center for Social and Affective Neuroscience, Linköping University, Linköping, Sweden.; Yu H; Department of Neuroscience, Perelman School of Medicine, University of Pennsylvania, Philadelphia, USA.; Kao AR; School of Engineering and Applied Science, University of Virginia, Charlottesville, USA.; Thorell O; Center for Social and Affective Neuroscience, Linköping University, Linköping, Sweden.; School of Medicine, Western Sydney University, Sydney, Australia.; Liljencrantz J; National Center for Complementary and Integrative Health, National Institutes of Health, Bethesda, USA.; Department of Anesthesiology and Intensive Care, Institute of Clinical Sciences, Sahlgrenska Academy at University of Gothenburg, Gothenburg, Sweden.; Ng KKW; Center for Social and Affective Neuroscience, Linköping University, Linköping, Sweden.; Frangos E; National Center for Complementary and Integrative Health, National Institutes of Health, Bethesda, USA.; Ragnemalm B; Center for Social and Affective Neuroscience, Linköping University, Linköping, Sweden.; Saade D; National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, USA.; Bharucha-Goebel D; National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, USA.; Szczot I; Center for Social and Affective Neuroscience, Linköping University, Linköping, Sweden.; Moore W; Institute of Life Course and Medical Sciences, University of Liverpool, UK.; Terejko K; Center for Social and Affective Neuroscience, Linköping University, Linköping, Sweden.; Biology of Astrocytes Research Group, Łukasiewicz Research Network - PORT Polish Center for Technology Development, Wroclaw, Poland.; Cole J; University Hospitals, Dorset, and University of Bournemouth, UK.; Bonnemann C; National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, USA.; Luo W; Department of Neuroscience, Perelman School of Medicine, University of Pennsylvania, Philadelphia, USA.; Mahns DA; School of Medicine, Western Sydney University, Sydney, Australia.; Larsson M; Center for Social and Affective Neuroscience, Linköping University, Linköping, Sweden.; Gerling GJ; School of Engineering and Applied Science, University of Virginia, Charlottesville, USA.; Marshall AG; Center for Social and Affective Neuroscience, Linköping University, Linköping, Sweden.; Institute of Life Course and Medical Sciences, University of Liverpool, UK.; Chesler AT; National Center for Complementary and Integrative Health, National Institutes of Health, Bethesda, USA.; National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, USA.; Olausson H; Center for Social and Affective Neuroscience, Linköping University, Linköping, Sweden.; Nagi SS; Center for Social and Affective Neuroscience, Linköping University, Linköping, Sweden.; School of Medicine, Western Sydney University, Sydney, Australia.; Senior author.; Szczot M; Center for Social and Affective Neuroscience, Linköping University, Linköping, Sweden.; Senior author.

Country of Publication: United States NLM ID: 101680187 Publication Model: Electronic Cited Medium: Internet NLM ISO Abbreviation: bioRxiv Subsets: PubMed not MEDLINE

Servais L; MDUK Oxford Neuromuscular Centre & NIHR Oxford Biomedical Research Centre, University of Oxford, Oxford, UK; Division of Child Neurology, Centre de Référence des Maladies Neuromusculaires, Department of Pediatrics, University Hospital Liège and University of Liège, Avenue de l'Hôpital 1 4000 Liege, Belgium. Electronic address: laurent.servais@paediatrics.ox.ac.uk.; Horton R; MDUK Oxford Neuromuscular Centre & NIHR Oxford Biomedical Research Centre, University of Oxford, Oxford, UK.; Saade D; Department of Neurology, University of Iowa Carver College of Medicine, Iowa City, IA, USA.; Bonnemann C; National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD 20892, USA.; Muntoni F; UCL Great Ormond Street Institute of Child Health, The Dubowitz Neuromuscular Centre, London, UK; National Institute for Health Research, Great Ormond Street Institute of Child Health Biomedical Research Centre, University College London, London, UK.

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

Battaglia R; Department of Cell Biology and Physiology, University of North Carolina at Chapel Hill.; Faridounnia M; Department of Cell Biology and Physiology, University of North Carolina at Chapel Hill.; Beltran A; Department of Genetics, University of North Carolina at Chapel Hill.; Robinson J; Department of Cell Biology and Physiology, University of North Carolina at Chapel Hill.; Kinghorn K; Department of Cell Biology and Physiology, University of North Carolina at Chapel Hill.; Ezzell JA; Department of Cell Biology and Physiology, University of North Carolina at Chapel Hill.; Bharucha-Goebel D; National Institute of Neurological Diseases and Stroke, Bethesda, MD.; Bonnemann C; National Institute of Neurological Diseases and Stroke, Bethesda, MD.; Hooper JE; Department of Pathology, Stanford University, Palo Alto, CA.; Opal P; Departments of Neurology and Cell and Developmental Biology, Northwestern University, Chicago, IL.; Bouldin TW; Department of Pathology and Laboratory Medicine, University of North Carolina at Chapel Hill.; Armao D; Department of Pathology and Laboratory Medicine, University of North Carolina at Chapel Hill.; Department of Radiology, University of North Carolina at Chapel Hill.; Snider N; Department of Cell Biology and Physiology, University of North Carolina at Chapel Hill.

Publisher: American Society for Cell Biology Country of Publication: United States NLM ID: 9201390 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1939-4586 (Electronic) Linking ISSN: 10591524 NLM ISO Abbreviation: Mol Biol Cell Subsets: MEDLINE

Wojcik MH; Lemire G; Zaki MS; Wissman M; Win W; White S; Weisburd B; Waddell LB; Verboon JM; VanNoy GE; Töpf A; Tan TY; Straub V; Stenton SL; Snow H; Singer-Berk M; Silver J; Shril S; Seaby EG; Schneider R; Sankaran VG; Sanchis-Juan A; Russell KA; Reinson K; Ravenscroft G; Pierce EA; Place EM; Pajusalu S; Pais L; Õunap K; Osei-Owusu I; Okur V; Oja KT; O'Leary M; O'Heir E; Morel C; Marchant RG; Mangilog BE; Madden JA; MacArthur D; Lovgren A; Lerner-Ellis JP; Lin J; Laing N; Hildebrandt F; Groopman E; Goodrich J; Gleeson JG; Ghaoui R; Genetti CA; Gazda HT; Ganesh VS; Ganapathy M; Gallacher L; Fu J; Evangelista E; England E; Donkervoort S; DiTroia S; Cooper ST; Chung WK; Christodoulou J; Chao KR; Cato LD; Bujakowska KM; Bryen SJ; Brand H; Bonnemann C; Beggs AH; Baxter SM; Agrawal PB; Talkowski M; Austin-Tse C; Rehm HL; O'Donnell-Luria A

Country of Publication: United States NLM ID: 101767986 Publication Model: Electronic Cited Medium: Internet NLM ISO Abbreviation: medRxiv Subsets: PubMed not MEDLINE

Maggi L; Neuroimmunology and Neuromuscular Diseases Unit, Fondazione IRCCS Instituto Neurologico Carlo Besta, Milano, Italy. Electronic address: lorenzo.Maggi@istituto-besta.it.; Quijano-Roy S; APHP-Université Paris-Saclay, Neuromuscular Disorders Reference Center of Nord-Est-Île de France, FILNEMUS, ERN-Euro-NMD, Creteil, France; Pediatric Neurology and ICU Department, DMU Santé Enfant Adolescent (SEA), Raymond Poincaré University Hospital, Garches, France.; Bönnemann C; Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, United States.; Bonne G; Sorbonne Université, INSERM, Institut de Myologie, Centre de Recherche en Myologie, Paris, France. Electronic address: g.bonne@institut-myologie.org.

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

Battaglia R; Department of Cell Biology and Physiology, University of North Carolina at Chapel Hill.; Faridounnia M; Department of Cell Biology and Physiology, University of North Carolina at Chapel Hill.; Beltran A; Department of Genetics, University of North Carolina at Chapel Hill.; Robinson J; Department of Cell Biology and Physiology, University of North Carolina at Chapel Hill.; Kinghorn K; Department of Cell Biology and Physiology, University of North Carolina at Chapel Hill.; Ezzell JA; Department of Cell Biology and Physiology, University of North Carolina at Chapel Hill.; Bharucha-Goebel D; National Institute of Neurological Diseases and Stroke, Bethesda, MD.; Bonnemann C; National Institute of Neurological Diseases and Stroke, Bethesda, MD.; Hooper JE; Department of Pathology, Stanford University, Palo Alto, CA.; Opal P; Departments of Neurology and Cell and Developmental Biology, Northwestern University, Chicago, IL.; Bouldin TW; Department of Pathology and Laboratory Medicine, University of North Carolina at Chapel Hill.; Armao D; Department of Pathology and Laboratory Medicine, University of North Carolina at Chapel Hill.; Department of Radiology, University of North Carolina at Chapel Hill.; Snider N; Department of Cell Biology and Physiology, University of North Carolina at Chapel Hill.

Country of Publication: United States NLM ID: 101680187 Publication Model: Electronic Cited Medium: Internet NLM ISO Abbreviation: bioRxiv Subsets: PubMed not MEDLINE

Moreno CAM; Department of Neurology (C.A.M.M., M.C.A., A.T.Q.S.M.F., C.G.C., A.M.S.S., U.C.R., E.Z.), School of Medicine, Universidade de São Paulo (FMUSP), Brazil; Department of Physical Therapy (G.C.M., F.C.S., C.R.F.A.), Speech Language and Hearing Science Adn Occupational Therapy, School of Medicine, Universidade de São Paulo (FMUSP), Brazil; Neuromuscular and Neurogenetic Disorders of Childhood Section (S.D., C.B.), National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD; Department of Neurology, Hospital Santa Marcelina (L.D.J.), São Paulo, Brazil; and Department of Pathology (O.L.A.-N.), Division of Neuropathology, University of Pittsburgh Medical Center, Pittsburgh, PA.; Artilheiro MC; Department of Neurology (C.A.M.M., M.C.A., A.T.Q.S.M.F., C.G.C., A.M.S.S., U.C.R., E.Z.), School of Medicine, Universidade de São Paulo (FMUSP), Brazil; Department of Physical Therapy (G.C.M., F.C.S., C.R.F.A.), Speech Language and Hearing Science Adn Occupational Therapy, School of Medicine, Universidade de São Paulo (FMUSP), Brazil; Neuromuscular and Neurogenetic Disorders of Childhood Section (S.D., C.B.), National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD; Department of Neurology, Hospital Santa Marcelina (L.D.J.), São Paulo, Brazil; and Department of Pathology (O.L.A.-N.), Division of Neuropathology, University of Pittsburgh Medical Center, Pittsburgh, PA.; Fonseca ATQSM; Department of Neurology (C.A.M.M., M.C.A., A.T.Q.S.M.F., C.G.C., A.M.S.S., U.C.R., E.Z.), School of Medicine, Universidade de São Paulo (FMUSP), Brazil; Department of Physical Therapy (G.C.M., F.C.S., C.R.F.A.), Speech Language and Hearing Science Adn Occupational Therapy, School of Medicine, Universidade de São Paulo (FMUSP), Brazil; Neuromuscular and Neurogenetic Disorders of Childhood Section (S.D., C.B.), National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD; Department of Neurology, Hospital Santa Marcelina (L.D.J.), São Paulo, Brazil; and Department of Pathology (O.L.A.-N.), Division of Neuropathology, University of Pittsburgh Medical Center, Pittsburgh, PA.; Camelo CG; Department of Neurology (C.A.M.M., M.C.A., A.T.Q.S.M.F., C.G.C., A.M.S.S., U.C.R., E.Z.), School of Medicine, Universidade de São Paulo (FMUSP), Brazil; Department of Physical Therapy (G.C.M., F.C.S., C.R.F.A.), Speech Language and Hearing Science Adn Occupational Therapy, School of Medicine, Universidade de São Paulo (FMUSP), Brazil; Neuromuscular and Neurogenetic Disorders of Childhood Section (S.D., C.B.), National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD; Department of Neurology, Hospital Santa Marcelina (L.D.J.), São Paulo, Brazil; and Department of Pathology (O.L.A.-N.), Division of Neuropathology, University of Pittsburgh Medical Center, Pittsburgh, PA.; de Medeiros GC; Department of Neurology (C.A.M.M., M.C.A., A.T.Q.S.M.F., C.G.C., A.M.S.S., U.C.R., E.Z.), School of Medicine, Universidade de São Paulo (FMUSP), Brazil; Department of Physical Therapy (G.C.M., F.C.S., C.R.F.A.), Speech Language and Hearing Science Adn Occupational Therapy, School of Medicine, Universidade de São Paulo (FMUSP), Brazil; Neuromuscular and Neurogenetic Disorders of Childhood Section (S.D., C.B.), National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD; Department of Neurology, Hospital Santa Marcelina (L.D.J.), São Paulo, Brazil; and Department of Pathology (O.L.A.-N.), Division of Neuropathology, University of Pittsburgh Medical Center, Pittsburgh, PA.; Sassi FC; Department of Neurology (C.A.M.M., M.C.A., A.T.Q.S.M.F., C.G.C., A.M.S.S., U.C.R., E.Z.), School of Medicine, Universidade de São Paulo (FMUSP), Brazil; Department of Physical Therapy (G.C.M., F.C.S., C.R.F.A.), Speech Language and Hearing Science Adn Occupational Therapy, School of Medicine, Universidade de São Paulo (FMUSP), Brazil; Neuromuscular and Neurogenetic Disorders of Childhood Section (S.D., C.B.), National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD; Department of Neurology, Hospital Santa Marcelina (L.D.J.), São Paulo, Brazil; and Department of Pathology (O.L.A.-N.), Division of Neuropathology, University of Pittsburgh Medical Center, Pittsburgh, PA.; de Andrade CRF; Department of Neurology (C.A.M.M., M.C.A., A.T.Q.S.M.F., C.G.C., A.M.S.S., U.C.R., E.Z.), School of Medicine, Universidade de São Paulo (FMUSP), Brazil; Department of Physical Therapy (G.C.M., F.C.S., C.R.F.A.), Speech Language and Hearing Science Adn Occupational Therapy, School of Medicine, Universidade de São Paulo (FMUSP), Brazil; Neuromuscular and Neurogenetic Disorders of Childhood Section (S.D., C.B.), National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD; Department of Neurology, Hospital Santa Marcelina (L.D.J.), São Paulo, Brazil; and Department of Pathology (O.L.A.-N.), Division of Neuropathology, University of Pittsburgh Medical Center, Pittsburgh, PA.; Donkervoort S; Department of Neurology (C.A.M.M., M.C.A., A.T.Q.S.M.F., C.G.C., A.M.S.S., U.C.R., E.Z.), School of Medicine, Universidade de São Paulo (FMUSP), Brazil; Department of Physical Therapy (G.C.M., F.C.S., C.R.F.A.), Speech Language and Hearing Science Adn Occupational Therapy, School of Medicine, Universidade de São Paulo (FMUSP), Brazil; Neuromuscular and Neurogenetic Disorders of Childhood Section (S.D., C.B.), National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD; Department of Neurology, Hospital Santa Marcelina (L.D.J.), São Paulo, Brazil; and Department of Pathology (O.L.A.-N.), Division of Neuropathology, University of Pittsburgh Medical Center, Pittsburgh, PA.; Silva AMS; Department of Neurology (C.A.M.M., M.C.A., A.T.Q.S.M.F., C.G.C., A.M.S.S., U.C.R., E.Z.), School of Medicine, Universidade de São Paulo (FMUSP), Brazil; Department of Physical Therapy (G.C.M., F.C.S., C.R.F.A.), Speech Language and Hearing Science Adn Occupational Therapy, School of Medicine, Universidade de São Paulo (FMUSP), Brazil; Neuromuscular and Neurogenetic Disorders of Childhood Section (S.D., C.B.), National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD; Department of Neurology, Hospital Santa Marcelina (L.D.J.), São Paulo, Brazil; and Department of Pathology (O.L.A.-N.), Division of Neuropathology, University of Pittsburgh Medical Center, Pittsburgh, PA.; Dalfior-Junior L; Department of Neurology (C.A.M.M., M.C.A., A.T.Q.S.M.F., C.G.C., A.M.S.S., U.C.R., E.Z.), School of Medicine, Universidade de São Paulo (FMUSP), Brazil; Department of Physical Therapy (G.C.M., F.C.S., C.R.F.A.), Speech Language and Hearing Science Adn Occupational Therapy, School of Medicine, Universidade de São Paulo (FMUSP), Brazil; Neuromuscular and Neurogenetic Disorders of Childhood Section (S.D., C.B.), National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD; Department of Neurology, Hospital Santa Marcelina (L.D.J.), São Paulo, Brazil; and Department of Pathology (O.L.A.-N.), Division of Neuropathology, University of Pittsburgh Medical Center, Pittsburgh, PA.; Abath-Neto OL; Department of Neurology (C.A.M.M., M.C.A., A.T.Q.S.M.F., C.G.C., A.M.S.S., U.C.R., E.Z.), School of Medicine, Universidade de São Paulo (FMUSP), Brazil; Department of Physical Therapy (G.C.M., F.C.S., C.R.F.A.), Speech Language and Hearing Science Adn Occupational Therapy, School of Medicine, Universidade de São Paulo (FMUSP), Brazil; Neuromuscular and Neurogenetic Disorders of Childhood Section (S.D., C.B.), National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD; Department of Neurology, Hospital Santa Marcelina (L.D.J.), São Paulo, Brazil; and Department of Pathology (O.L.A.-N.), Division of Neuropathology, University of Pittsburgh Medical Center, Pittsburgh, PA.; Reed UC; Department of Neurology (C.A.M.M., M.C.A., A.T.Q.S.M.F., C.G.C., A.M.S.S., U.C.R., E.Z.), School of Medicine, Universidade de São Paulo (FMUSP), Brazil; Department of Physical Therapy (G.C.M., F.C.S., C.R.F.A.), Speech Language and Hearing Science Adn Occupational Therapy, School of Medicine, Universidade de São Paulo (FMUSP), Brazil; Neuromuscular and Neurogenetic Disorders of Childhood Section (S.D., C.B.), National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD; Department of Neurology, Hospital Santa Marcelina (L.D.J.), São Paulo, Brazil; and Department of Pathology (O.L.A.-N.), Division of Neuropathology, University of Pittsburgh Medical Center, Pittsburgh, PA.; Bönnemann C; Department of Neurology (C.A.M.M., M.C.A., A.T.Q.S.M.F., C.G.C., A.M.S.S., U.C.R., E.Z.), School of Medicine, Universidade de São Paulo (FMUSP), Brazil; Department of Physical Therapy (G.C.M., F.C.S., C.R.F.A.), Speech Language and Hearing Science Adn Occupational Therapy, School of Medicine, Universidade de São Paulo (FMUSP), Brazil; Neuromuscular and Neurogenetic Disorders of Childhood Section (S.D., C.B.), National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD; Department of Neurology, Hospital Santa Marcelina (L.D.J.), São Paulo, Brazil; and Department of Pathology (O.L.A.-N.), Division of Neuropathology, University of Pittsburgh Medical Center, Pittsburgh, PA.; Zanoteli E; Department of Neurology (C.A.M.M., M.C.A., A.T.Q.S.M.F., C.G.C., A.M.S.S., U.C.R., E.Z.), School of Medicine, Universidade de São Paulo (FMUSP), Brazil; Department of Physical Therapy (G.C.M., F.C.S., C.R.F.A.), Speech Language and Hearing Science Adn Occupational Therapy, School of Medicine, Universidade de São Paulo (FMUSP), Brazil; Neuromuscular and Neurogenetic Disorders of Childhood Section (S.D., C.B.), National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD; Department of Neurology, Hospital Santa Marcelina (L.D.J.), São Paulo, Brazil; and Department of Pathology (O.L.A.-N.), Division of Neuropathology, University of Pittsburgh Medical Center, Pittsburgh, PA.

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

Aguti S; The Dubowitz Neuromuscular Centre, Molecular Neurosciences Section, Developmental Neurosciences Research and Teaching Department, Great Ormond Street Institute of Child Health, University College London, London, UK.; Guirguis F; The Dubowitz Neuromuscular Centre, Molecular Neurosciences Section, Developmental Neurosciences Research and Teaching Department, Great Ormond Street Institute of Child Health, University College London, London, UK.; Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, USA.; Bönnemann C; Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, USA.; Muntoni F; The Dubowitz Neuromuscular Centre, Molecular Neurosciences Section, Developmental Neurosciences Research and Teaching Department, Great Ormond Street Institute of Child Health, University College London, London, UK.; NIHR Great Ormond Street Hospital Biomedical Research Centre, London, UK.; Bolduc V; Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, USA. veronique.bolduc@nih.gov.; Zhou H; NIHR Great Ormond Street Hospital Biomedical Research Centre, London, UK. haiyan.zhou@ucl.ac.uk.; Genetics and Genomic Medicine Research and Teaching Department, Great Ormond Street Institute of Child Health, University College London, London, UK. haiyan.zhou@ucl.ac.uk.

Publisher: Humana Press Country of Publication: United States NLM ID: 9214969 Publication Model: Print Cited Medium: Internet ISSN: 1940-6029 (Electronic) Linking ISSN: 10643745 NLM ISO Abbreviation: Methods Mol Biol Subsets: MEDLINE

Nagy S; MRC Centre for Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, UK.; Department of Neurology, University Hospital Basel, University of Basel, Basel, Switzerland.; Lau T; MRC Centre for Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, UK.; Alavi S; Division of Genetics, Department of Cellular and Molecular Biology and Microbiology, Faculty of Science and Technology, University of Isfahan, Isfahan, Iran.; Karimiani EG; Molecular and Clinical Sciences Institute, St. George's, University of London, London, UK.; Vallian J; Division of Genetics, Department of Cellular and Molecular Biology and Microbiology, Faculty of Science and Technology, University of Isfahan, Isfahan, Iran.; Ng BG; Human Genetics Program, Sanford Burnham Prebys Medical Discovery Institute, La Jolla, California, USA.; Noroozi Asl S; Pediatrics Endocrinology Department, Mashhad University of Medical Sciences, Mashhad, Iran.; Akhondian J; Pediatric Neurology Department, Ghaem hospital, Mashhad University of Medical Sciences, Mashhad, Iran.; Bahreini A; Karyogen Medical Genetics Laboratory, Alzahra University, Isfahan, Iran.; Yaghini O; Child Growth and Development Research Center, Research Institute for Primordial Prevention of Non-Communicable Disease, Isfahan University of Medical Sciences, Isfahan, Iran.; Uapinyoying P; Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, Maryland, USA.; Bonnemann C; Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, Maryland, USA.; Freeze HH; Human Genetics Program, Sanford Burnham Prebys Medical Discovery Institute, La Jolla, California, USA.; Dissanayake VHW; Department of Anatomy, Genetics & Biomedical Informatics, Faculty of Medicine, University of Colombo, Colombo, Sri Lanka.; Sirisena ND; Department of Anatomy, Genetics & Biomedical Informatics, Faculty of Medicine, University of Colombo, Colombo, Sri Lanka.; Schmidts M; Department of Pediatrics and Adolescent Medicine, University Hospital Freiburg, Freiburg University Faculty of Medicine, Germany.; Houlden H; MRC Centre for Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, UK.; Moreno-De-Luca A; Autism & Developmental Medicine Institute, Genomic Medicine Institute, Department of Radiology, Diagnostic Medicine Institute, Danville, Pennsylvania, USA.; Maroofian R; MRC Centre for Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, UK.

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