부산대학교 도서관

Ahmad OF; EMG Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, Maryland.; Mount Carmel St Ann's Hospital, Columbus, Ohio.; Saade D; Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, Maryland.; Foley AR; Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, Maryland.; Bönnemann C; Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, Maryland.; Lehky T; EMG Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, Maryland.

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

Witherspoon JW; National Institute of Nursing Research/Tissue Injury Branch/Neuromuscular Symptoms Unit, National Institutes of Health, Bethesda, MD, 20814, USA. Electronic address: Jessica.witherspoon@nih.gov.; Vasavada R; Clinical Research Center, Rehabilitation Medicine Department, National Institutes of Health, Bethesda, MD, 20814, USA. Electronic address: ruhivasavada@gmail.com.; Logaraj RH; Clinical Research Center, Rehabilitation Medicine Department, National Institutes of Health, Bethesda, MD, 20814, USA. Electronic address: rlogaraj@gmail.com.; Waite M; Clinical Research Center, Rehabilitation Medicine Department, National Institutes of Health, Bethesda, MD, 20814, USA. Electronic address: melissa.waite@nih.gov.; Collins J; Department of Rehabilitation Science, George Mason University, Fairfax, VA, 22030, USA. Electronic address: jcolli22@gmu.edu.; Shieh C; Office of Research on Women's Health, National Institutes of Health, Bethesda, MD, 20814, USA. Electronic address: hingyi.shieh@nih.gov.; Meilleur K; National Institute of Nursing Research/Tissue Injury Branch/Neuromuscular Symptoms Unit, National Institutes of Health, Bethesda, MD, 20814, USA. Electronic address: meilleurk@nih.gov.; Bönnemann C; Neuromuscular and Neurogenetic Disorders of Childhood Section, Neurogenetics Branch, National Institutes of Health, Bethesda, MD, 20814, USA. Electronic address: carsten.bonnemann@nih.gov.; Jain M; Clinical Research Center, Rehabilitation Medicine Department, National Institutes of Health, Bethesda, MD, 20814, USA. Electronic address: Mjain@cc.nih.gov.

Publisher: Saunders Country of Publication: England NLM ID: 9715169 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1532-2130 (Electronic) Linking ISSN: 10903798 NLM ISO Abbreviation: Eur J Paediatr Neurol Subsets: MEDLINE

Sapp JC; Medical Genomics and Metabolic Genetics Branch, National Human Genome Research Institute, Bethesda, MD 20892, USA.; Johnston JJ; Medical Genomics and Metabolic Genetics Branch, National Human Genome Research Institute, Bethesda, MD 20892, USA.; Driscoll K; Medical Genomics and Metabolic Genetics Branch, National Human Genome Research Institute, Bethesda, MD 20892, USA.; Heidlebaugh AR; Social and Behavioral Research Branch, National Human Genome Research Institute, Bethesda, MD 20892, USA.; Miren Sagardia A; Social and Behavioral Research Branch, National Human Genome Research Institute, Bethesda, MD 20892, USA.; Dogbe DN; Social and Behavioral Research Branch, National Human Genome Research Institute, Bethesda, MD 20892, USA.; Umstead KL; Social and Behavioral Research Branch, National Human Genome Research Institute, Bethesda, MD 20892, USA.; Turbitt E; Social and Behavioral Research Branch, National Human Genome Research Institute, Bethesda, MD 20892, USA.; Alevizos I; National Institute of Dental and Craniofacial Research, Bethesda, MD 20892, USA.; Baron J; Section on Growth Development, National Institute of Child Health and Human Development, Bethesda, MD 20892, USA.; Bönnemann C; Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurologic Disorders and Stroke, Bethesda, MD 20892, USA.; Brooks B; Office of the Clinical Director, National Eye Institute, Bethesda, MD 20892, USA.; Donkervoort S; Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurologic Disorders and Stroke, Bethesda, MD 20892, USA.; Jee YH; Section on Growth Development, National Institute of Child Health and Human Development, Bethesda, MD 20892, USA.; Linehan WM; Urologic Oncology Branch, National Cancer Institute, Bethesda, MD 20892, USA.; McMahon FJ; Human Genetics Branch, National Institutes of Mental Health, Bethesda, MD 20892, USA.; Moss J; Laboratory of Translational Research, National Heart, Lung, and Blood Institute, Bethesda, MD 20892, USA.; Mullikin JC; NIH Intramural Sequencing Center, National Human Genome Research Institute, Bethesda, MD 20892, USA.; Nielsen D; Urologic Oncology Branch, National Cancer Institute, Bethesda, MD 20892, USA.; Pelayo E; National Institute of Dental and Craniofacial Research, Bethesda, MD 20892, USA.; Remaley AT; Lipoprotein Metabolism Laboratory, National Heart, Lung, and Blood Institute, Bethesda, MD 20892, USA.; Siegel R; Office of the Clinical Director, National Institute of Arthritis and Musculoskeletal and Skin Diseases, Bethesda, MD 20892, USA.; Su H; Human Immunological Diseases Section, National Institute of Allergy and Infectious Diseases, Bethesda, MD 20892, USA.; Zarate C; Human Genetics Branch, National Institutes of Mental Health, Bethesda, MD 20892, USA.; Manolio TA; Division of Genomic Medicine, National Human Genome Research Institute, Bethesda, MD 20892, USA.; Biesecker BB; Social and Behavioral Research Branch, National Human Genome Research Institute, Bethesda, MD 20892, USA.; Biesecker LG; Medical Genomics and Metabolic Genetics Branch, National Human Genome Research Institute, Bethesda, MD 20892, USA. Electronic address: lesb@mail.nih.gov.

Publisher: Cell Press Country of Publication: United States NLM ID: 0370475 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1537-6605 (Electronic) Linking ISSN: 00029297 NLM ISO Abbreviation: Am J Hum Genet Subsets: MEDLINE

Dabaj I; APHP, Service de Pediatrie, Pôle Neuro-locomoteur, Hôpital Universitaire Raymond Poincaré-Garches, Centre de Reference de Maladies Neuromusculaires Centre de référence des maladies neuromusculaires Nord/Est/Ile de, France.; Carlier RY; APHP, Service d'Imagerie Médicale, Pôle Neuro-locomoteur, Hôpital Universitaire Raymond Poincaré-Garches; Centre de référence des maladies neuromusculaires Nord/Est/Ile de France, UMR 1179 Université Paris Saclay, France.; Gómez-Andrés D; Child Neurology Unit, Hospital Universitari Vall d'Hebron, ERN-RND / ERN-NMD. Vall d'Hebron Institut de Recerca, Barcelona, Spain, Barcelona, Spain.; Neto OA; Neuromuscular and Neurogenetics Disorders of Childhood Section, Neurogenetics Branch, National Institutes of Neurological Disorders and Stroke, NIH, Bethesda, Maryland, USA.; Bertini E; Unit of Neuromuscular and Neurodegenerative Diseases, Laboratory of Molecular Medicine, Department of Neurosciences, Bambino Gesú Children's Hospital, Rome, Italy.; D'amico A; Unit of Neuromuscular and Neurodegenerative Diseases, Laboratory of Molecular Medicine, Department of Neurosciences, Bambino Gesú Children's Hospital, Rome, Italy.; Fattori F; Unit of Neuromuscular and Neurodegenerative Diseases, Laboratory of Molecular Medicine, Department of Neurosciences, Bambino Gesú Children's Hospital, Rome, Italy.; PéRéon Y; APHP, Service d'Imagerie Médicale, Pôle Neuro-locomoteur, Hôpital Universitaire Raymond Poincaré-Garches; Centre de référence des maladies neuromusculaires Nord/Est/Ile de France, UMR 1179 Université Paris Saclay, France.; Centre de reference de maladies neuromusculaires Nantes-Angers, Hôtel-Dieu, CHU Nantes, France.; Castiglioni C; Department of Pediatric, Neurology Unit, Clínica Las Condes, Santiago, Chile.; Rodillo E; Department of Pediatric, Neurology Unit, Clínica Las Condes, Santiago, Chile.; Catteruccia M; Unit of Neuromuscular and Neurodegenerative Diseases, Laboratory of Molecular Medicine, Department of Neurosciences, Bambino Gesú Children's Hospital, Rome, Italy.; Guimarães JB; Department of Radiology, DASA Laboratory, São Paulo, Brazil.; Oliveira ASB; Departamento de Neurologia, Universidade Federal de São Paulo (UNIFESP), São Paulo, Brazil.; Reed UC; Departamento de Neurologia, Faculdade de Medicina da Universidade de São Paulo (FMUSP), São Paulo, Brazil.; Mesrob L; Centre National de Génotypage, Institut de Génomique, CEA, Evry, France.; Lechner D; Centre National de Génotypage, Institut de Génomique, CEA, Evry, France.; Boland A; Centre National de Génotypage, Institut de Génomique, CEA, Evry, France.; Deleuze JF; Centre National de Génotypage, Institut de Génomique, CEA, Evry, France.; Malfatti E; APHP, Service d'Imagerie Médicale, Pôle Neuro-locomoteur, Hôpital Universitaire Raymond Poincaré-Garches; Centre de référence des maladies neuromusculaires Nord/Est/Ile de France, UMR 1179 Université Paris Saclay, France.; Laboratoire de Pathologie musculaire, Institut de Myologie, Paris, France.; Bonnemann C; Neuromuscular and Neurogenetics Disorders of Childhood Section, Neurogenetics Branch, National Institutes of Neurological Disorders and Stroke, NIH, Bethesda, Maryland, USA.; Laporte J; Department of Translational Medicine and Neurogenetics, IGBMC, INSERM U964, CNRS UMR7104, University of Strasbourg, Illkirch, France.; Romero N; APHP, Service d'Imagerie Médicale, Pôle Neuro-locomoteur, Hôpital Universitaire Raymond Poincaré-Garches; Centre de référence des maladies neuromusculaires Nord/Est/Ile de France, UMR 1179 Université Paris Saclay, France.; Laboratoire de Pathologie musculaire, Institut de Myologie, Paris, France.; Felter A; APHP, Service d'Imagerie Médicale, Pôle Neuro-locomoteur, Hôpital Universitaire Raymond Poincaré-Garches; Centre de référence des maladies neuromusculaires Nord/Est/Ile de France, UMR 1179 Université Paris Saclay, France.; Quijano-Roy S; APHP, Service de Pediatrie, Pôle Neuro-locomoteur, Hôpital Universitaire Raymond Poincaré-Garches, Centre de Reference de Maladies Neuromusculaires Centre de référence des maladies neuromusculaires Nord/Est/Ile de, France.; Moreno CAM; Departamento de Neurologia, Faculdade de Medicina da Universidade de São Paulo (FMUSP), São Paulo, Brazil.; Zanoteli E; Departamento de Neurologia, Faculdade de Medicina da Universidade de São Paulo (FMUSP), São Paulo, Brazil.

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

Cirak S; von Deimling F; Sachdev S; Errington WJ; Herrmann R; Bönnemann C; Brockmann K; Hinderlich S; Lindner TH; Steinbrecher A; Hoffmann K; Privé GG; Hannink M; Nürnberg P; Voit T; Cirak, Sebahattin; von Deimling, Florian; Sachdev, Shrikesh; Errington, Wesley J; Herrmann, Ralf; et al

Brain: A Journal of Neurology (BRAIN), Jul2010; 133(7): 2123-2135. (13p)

Bannerman PG; Hahn A; Ramirez S; Morley M; Bönnemann C; Yu S; Zhang G; Rostami A; Pleasure D; Bannerman, P G; Hahn, A; Ramirez, S; Morley, M; Bönnemann, C; Yu, S; Zhang, G-X; Rostami, A; Pleasure, D

Brain: A Journal of Neurology (BRAIN), Aug2005; 128(8): 1877-1886. (10p)

Fan Y; Department of Pediatrics, Peking University First Hospital, Beijing, China.; Liu A; Department of Pediatrics, Peking University First Hospital, Beijing, China.; Wei C; Department of Pediatrics, Peking University First Hospital, Beijing, China.; Yang H; Department of Pediatrics, Peking University First Hospital, Beijing, China.; Chang X; Department of Pediatrics, Peking University First Hospital, Beijing, China.; Wang S; Department of Pediatrics, Peking University First Hospital, Beijing, China.; Yuan Y; Department of Neurology, Peking University First Hospital, Beijing, China.; Bonnemann C; Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke/NIH, Bethesda, Maryland.; Wu Q; Human Genetics Resources Core Facility, School of Life Sciences, Peking University, Beijing, China.; Wu X; Department of Pediatrics, Peking University First Hospital, Beijing, China.; Xiong H; Department of Pediatrics, Peking University First Hospital, Beijing, China.

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

Moreno CAM; Department of Neurology, Medical School of the University of São Paulo (FMUSP), São Paulo, Brazil.; Abath Neto O; Department of Neurology, Medical School of the University of São Paulo (FMUSP), São Paulo, Brazil; Neuromuscular and Neurogenetics Disorders of Childhood Section, Neurogenetics branch, National Institutes of Neurological Disorders and Stroke, NIH, Bethesda, Maryland.; Donkervoort S; Neuromuscular and Neurogenetics Disorders of Childhood Section, Neurogenetics branch, National Institutes of Neurological Disorders and Stroke, NIH, Bethesda, Maryland.; Hu Y; Neuromuscular and Neurogenetics Disorders of Childhood Section, Neurogenetics branch, National Institutes of Neurological Disorders and Stroke, NIH, Bethesda, Maryland.; Reed UC; Department of Neurology, Medical School of the University of São Paulo (FMUSP), São Paulo, Brazil.; Oliveira ASB; Department of Neurology, Federal University of São Paulo, São Paulo, Brazil.; Bönnemann C; Neuromuscular and Neurogenetics Disorders of Childhood Section, Neurogenetics branch, National Institutes of Neurological Disorders and Stroke, NIH, Bethesda, Maryland.; Zanoteli E; Department of Neurology, Medical School of the University of São Paulo (FMUSP), São Paulo, Brazil. Electronic address: edmar.zanoteli@usp.br.

Publisher: Elsevier Science Publishing Country of Publication: United States NLM ID: 8508183 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1873-5150 (Electronic) Linking ISSN: 08878994 NLM ISO Abbreviation: Pediatr Neurol Subsets: MEDLINE

Echeverría C; School of Medicine, Universida Católica de Chile, Santiago, Chile.; Diaz A; Suarez B; Bevilacqua JA; Bonnemann C; Bertini E; Castiglioni C

Publisher: Society for the Publication of Acta Dermato-Venereologica Country of Publication: Sweden NLM ID: 0370310 Publication Model: Print Cited Medium: Internet ISSN: 1651-2057 (Electronic) Linking ISSN: 00015555 NLM ISO Abbreviation: Acta Derm Venereol Subsets: MEDLINE

Dastgir J; From the Neuromuscular and Neurogenetic Disorders of Childhood Section, Neurogenetics Branch, National Institutes of Neurological Disorders and Stroke, Bethesda, Maryland (Drs Dastgir and Bonnemann); the Department of Pediatric Neurology, Division of Pediatric Neuromuscular Medicine, Columbia University Medical Center, New York, New York (Dr Dastgir); Cure CMD, Olathe, Kansas (Dr Rutkowski and Mss Alvarez and Cossette); the Department of Pediatrics, Quantitative Health Sciences Section (Drs Yan and Hoffmann), and the Department of Pathology and Laboratory Medicine, Division of Pediatric Pathology (Dr Lawlor and Ms Cossette); Medical College of Wisconsin, Milwaukee; the Dubowitz Neuromuscular Centre (Dr Sewry), the Institute of Child Health (Dr Sewry), and Great Ormond Street Hospital (Dr Sewry), University College of London, London, United Kingdom; the Wolfson Centre for Inherited Neuromuscular Diseases, RJAH Orthopaedic Hospital, Oswestry, United Kingdom (Dr Sewry); the Department of Neurophysiology, Tokyo Medical University, Tokyo, Japan (Dr Hayashi); and the Department of Neuropathology, University Medical Center, Johannes Gutenberg University, Mainz, Germany (Dr Goebel).; Rutkowski A; Alvarez R; Cossette SA; Yan K; Hoffmann RG; Sewry C; Hayashi YK; Goebel HH; Bonnemann C; Lawlor MW

Publisher: College of American Pathologists Country of Publication: United States NLM ID: 7607091 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1543-2165 (Electronic) Linking ISSN: 00039985 NLM ISO Abbreviation: Arch Pathol Lab Med Subsets: MEDLINE