부산대학교 도서관

Wang, CH; Dowling, JJ; North, K; Schroth, MK; Sejersen, T; Shapiro, F; Bellini, J; Weiss, H; Guillet, M; Amburgey, K; Apkon, S; Bertini, E; Bonnemann, C; Clarke, N; Connolly, AM; Estournet-Mathiaud, B; Fitzgerald, D; Florence, JM; Gee, R; Gurgel-Giannetti, J; Glanzman, AM; Hofmeister, B; Jungbluth, H; Koumbourlis, AC; Laing, NG; Main, M; Morrison, LA; Munns, C; Rose, K; Schuler, PM; Sewry, C; Storhaug, K; Vainzof, M; Yuan, N

Journal of child neurology. 27(3):363-382

Zanoteli E; Universidade de São Paulo, Faculdade de Medicina, Departamento de Neurologia, São Paulo SP, Brazil.; Araujo APQC; Universidade Federal do Rio de Janeiro, Faculdade de Medicina, Departamento de Pediatria, Rio de Janeiro RJ, Brazil.; Becker MM; Hospital de Clínicas de Porto Alegre, Departamento de Pediatria, Unidade de Neurologia Infantil, Porto Alegre RS, Brazil.; Fortes CPDD; Universidade Federal do Rio de Janeiro, Instituto de Puericultura e Pediatria Martagão Gesteira, Rio de Janeiro RJ, Brazil.; França MC Jr; Universidade Estadual de Campinas, Faculdade de Ciências Médicas, Departamento de Neurologia, Campinas SP, Brazil.; Machado-Costa MC; Escola Bahiana de Medicina e Saúde Pública, Salvador BA, Brazil.; Marques W Jr; Universidade de São Paulo, Faculdade de Medicina de Ribeirão Preto, Departamento de Neurociências e Ciências do Comportamento, Ribeirão Preto SP, Brazil.; Matsui C Jr; Universidade de São Paulo, Faculdade de Medicina, Departamento de Neurologia, São Paulo SP, Brazil.; Mendonça RH; Universidade de São Paulo, Faculdade de Medicina, Departamento de Neurologia, São Paulo SP, Brazil.; Nardes F; Universidade Federal do Rio de Janeiro, Instituto de Puericultura e Pediatria Martagão Gesteira, Rio de Janeiro RJ, Brazil.; Oliveira ASB; Universidade Federal de São Paulo, Departamento de Neurologia e Neurocirurgia, São Paulo SP, Brazil.; Pessoa ALS; Universidade Estadual do Ceará, Hospital Infantil Albert Sabin, Fortaleza CE, Brazil.; Saute JAM; Universidade Federal do Rio Grande do Sul, Faculdade de Medicina, Hospital de Clínicas de Porto Alegre, Serviços de Genética Médica e de Neurologia, Porto Alegre RS, Brazil.; Sgobbi P; Universidade Federal de São Paulo, Departamento de Neurologia e Neurocirurgia, São Paulo SP, Brazil.; Van der Linden H Jr; Centro de Reabilitação Dr. Henrique Santillo, Serviço de Neurologia Infantil e Neurofisiologia, Goiânia GO, Brazil.; Gurgel-Giannetti J; Universidade Federal de Minas Gerais, Faculdade de Medicina, Departamento de Pediatria, Belo Horizonte MG, Brazil.

Publisher: Thieme Country of Publication: Germany NLM ID: 0125444 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1678-4227 (Electronic) Linking ISSN: 0004282X NLM ISO Abbreviation: Arq Neuropsiquiatr Subsets: MEDLINE

Deshwar AR; Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, ON M5G 1X8, Canada.; Genetics and Genome Biology, Research Institute, The Hospital for Sick Children, Toronto, ON M5G 0A4, Canada.; Cytrynbaum C; Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, ON M5G 1X8, Canada.; Genetics and Genome Biology, Research Institute, The Hospital for Sick Children, Toronto, ON M5G 0A4, Canada.; Murthy H; Genetics and Genome Biology, Research Institute, The Hospital for Sick Children, Toronto, ON M5G 0A4, Canada.; Zon J; Genetics and Genome Biology, Research Institute, The Hospital for Sick Children, Toronto, ON M5G 0A4, Canada.; Chitayat D; Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, ON M5G 1X8, Canada.; Volpatti J; Genetics and Genome Biology, Research Institute, The Hospital for Sick Children, Toronto, ON M5G 0A4, Canada.; Newbury-Ecob R; Department of Clinical Genetics, University Hospitals Bristol NHS Foundation Trust, Bristol, BS2 8EG, UK.; Ellard S; Molecular Genetics, Royal Devon & Exeter NHS Foundation Trust, Exeter, EX2 5DW, UK.; Allen HL; MRC Epidemiology Unit, Institute of Metabolic Science, University of Cambridge, Cambridge, CB2 0SL, UK.; Yu EP; Zebrafish Genetics and Disease Models Core Facility, The Hospital for Sick Children, Toronto, ON M5G 0A4, Canada.; Noche R; Zebrafish Genetics and Disease Models Core Facility, The Hospital for Sick Children, Toronto, ON M5G 0A4, Canada.; Walker S; The Centre for Applied Genomics, Genetics, and Genome Biology, The Hospital for Sick Children, Toronto, ON M5G 0A4, Canada.; Scherer SW; Genetics and Genome Biology, Research Institute, The Hospital for Sick Children, Toronto, ON M5G 0A4, Canada.; The Centre for Applied Genomics, Genetics, and Genome Biology, The Hospital for Sick Children, Toronto, ON M5G 0A4, Canada.; Mahida S; Epilepsy Genetics Program, Department of Neurology, Boston Children's Hospital, Boston, MA 02115, USA.; Elitt CM; Fetal-Neonatal Neurology Program, Department of Neurology, Boston Children's Hospital, Boston, MA 02115, USA.; F.M. Kirby Neurobiology Center, Boston Children's Hospital, Boston, MA 02115, USA.; Department of Neurology, Harvard Medical School, Boston, MA 02115, USA.; Nicolas G; Department of Genetics and Reference Center for Developmental Disorders, Normandy Center for Genomic and Personalized Medicine, UNIROUEN, INSERM U1245 and Rouen University Hospital, Normandie University, F 76000 Rouen, France.; Goldenberg A; Department of Genetics and Reference Center for Developmental Disorders, Normandy Center for Genomic and Personalized Medicine, UNIROUEN, INSERM U1245 and Rouen University Hospital, Normandie University, F 76000 Rouen, France.; Saugier-Veber P; Department of Genetics and Reference Center for Developmental Disorders, Normandy Center for Genomic and Personalized Medicine, UNIROUEN, INSERM U1245 and Rouen University Hospital, Normandie University, F 76000 Rouen, France.; Lecoquierre F; Department of Genetics and Reference Center for Developmental Disorders, Normandy Center for Genomic and Personalized Medicine, UNIROUEN, INSERM U1245 and Rouen University Hospital, Normandie University, F 76000 Rouen, France.; Dabaj I; Department of Neonatology and Pediatric Intensive Care-Pediatric Neurology, Rouen University Hospital, and INSERM U1245, Normandie University, UNIROUEN, 76000 Rouen, France.; Meddaugh H; Department of Genetics, Children's Hospital of New Orleans, New Orleans, LA 70118, USA.; Marble M; Department of Genetics, Children's Hospital of New Orleans, New Orleans, LA 70118, USA.; Department of Pediatrics, Louisiana State University Health Sciences Center, New Orleans, LA 70112, USA.; Keppler-Noreuil KM; Department of Pediatrics, University of Wisconsin-Madison, Madison, WI 53792, USA.; Drayson L; Pediatric Specialists of Virginia, Fairfax, VA 22031, USA.; Barañano KW; Department of Neurology, Johns Hopkins University School of Medicine, Baltimore, MA 21287, USA.; Chassevent A; Division of Neurogenetics, Kennedy Krieger Institute, Baltimore, MA 21205, USA.; Agre K; Department of Clinical Genomics, Mayo Clinic, Rochester, NY 55905, USA.; Létard P; Department of Clinical Genetics, Service de Génétique, CHU de Poitiers, CS 90577 - 86021 Poitiers Cedex, France.; Bilan F; Department of Clinical Genetics, Service de Génétique, CHU de Poitiers, CS 90577 - 86021 Poitiers Cedex, France.; EA3808 NEUVACOD, University of Poitiers, 86073 Poitiers, France.; Le Guyader G; Department of Clinical Genetics, Service de Génétique, CHU de Poitiers, CS 90577 - 86021 Poitiers Cedex, France.; EA3808 NEUVACOD, University of Poitiers, 86073 Poitiers, France.; Laquerrière A; Department of Pathology, Normandy Centre for Genomic and Personalized Medicine, Normandie Univeristy, UNIROUEN, INSERM U1245 and Rouen University Hospital, F76000 Rouen, France.; Ramsey K; Translational Genomics Research Institute, Center for Rare Childhood Disorders, Phoenix, AZ 85004, USA.; Henderson L; GeneDx, Gaithersburg, MD 20877, USA.; Brady L; Department of Pediatrics, McMaster University, Hamilton, ON L8S 4K1, Canada.; Tarnopolsky M; Department of Pediatrics, McMaster University, Hamilton, ON L8S 4K1, Canada.; Bainbridge M; Rady Children's Institute for Genomic Medicine, San Diego, CA 92123, USA.; Friedman J; Rady Children's Institute for Genomic Medicine, San Diego, CA 92123, USA.; Department of Neurosciences, University of California San Diego, San Diego, CA 92093, USA.; Department of Pediatrics, University of California San Diego, San Diego, CA 92093, USA.; Capri Y; Département de Génétique, Assistance Publique des Hôpitaux de Paris (AP-HP) Hôpital Robert Debré, 75019 Paris, France.; Athayde L; Mendelics Genomic Analysis, Sao Paulo CEP 02511-000, Brazil.; Kok F; Mendelics Genomic Analysis, Sao Paulo CEP 02511-000, Brazil.; Gurgel-Giannetti J; Department of Pediatrics, Federal University of Minas Gerais School of Medicine, Belo Horizonte - MG - CEP 31270-901, Brazil.; Ramos LLP; Mendelics Genomic Analysis, Sao Paulo CEP 02511-000, Brazil.; Blaser S; Department of Diagnostic Imaging, The Hospital for Sick Children, Toronto, ON M5G 1X8, Canada.; Dowling JJ; Genetics and Genome Biology, Research Institute, The Hospital for Sick Children, Toronto, ON M5G 0A4, Canada.; Division of Neurology, The Hospital for Sick Children, Toronto, ON M5G1X8, Canada.; Department of Molecular Genetics, Faculty of Medicine, University of Toronto, Toronto, ON M5S 1A8, Canada.; Weksberg R; Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, ON M5G 1X8, Canada.; Genetics and Genome Biology, Research Institute, The Hospital for Sick Children, Toronto, ON M5G 0A4, Canada.; Department of Molecular Genetics, Faculty of Medicine, University of Toronto, Toronto, ON M5S 1A8, Canada.; Institutes of Medical Sciences, University of Toronto, Toronto, ON M5S 1A8, Canada.

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

Jehee, Fernanda S.; de Oliveira, Valdirene T.; Gurgel‐Giannetti, Juliana; Pietra, Rafaella X.; Rubatino, Fernando V. M.; Carobin, Natália V.; Vianna, Gabrielle S.; de Freitas, Mariana L.; Fernandes, Karla S.; Ribeiro, Beatriz S. V.; Brüggenwirth, Hennie T.; Ali‐Amin, Roza; White, Janson J.; Akdemir, Zeynep C.; Jhangiani, Shalini N.; Gibbs, Richard A.; Lupski, James R.; Varela, Monica C.; Koiffmann, Célia; Rosenberg, Carla; Carvalho, Cláudia M. B.

American Journal of Medical Genetics Part A. Sep 01, 2017 173(9):2451-2455

Finkel RS; Center for Experimental Neurotherapeutics, St. Jude Children's Research Hospital, Memphis, TN, USA.; Day JW; Department of Neurology, Stanford University School of Medicine, Stanford, CA, USA.; Pascual Pascual SI; UAM, Servicio de Neurología Pediátrica, Hospital Universitario La Paz, Madrid, Spain.; Ryan MM; Department of Neurology, Royal Children's Hospital, Parkville, VIC, Australia.; Mercuri E; Department of Paediatric Neurology, Catholic University, Rome, Italy.; De Vivo DC; Departments of Neurology and Pediatrics, Columbia University Irving Medical Center, New York, NY, USA.; Montes J; Department of Rehabilitation and Regenerative Medicine, Columbia University Irving Medical Center, New York, NY, USA.; Gurgel-Giannetti J; Department of Paediatrics, Universidade Federal de Minas Gerais, Belo Horizonte, Brazil.; Monine M; Biogen, Cambridge, MA, USA.; Gambino G; Biogen, Maidenhead, Berkshire, UK.; Makepeace C; Biogen, Maidenhead, Berkshire, UK.; Foster R; Biogen, Maidenhead, Berkshire, UK.; Berger Z; Biogen, Cambridge, MA, USA.

Publisher: IOS Press Country of Publication: Netherlands NLM ID: 101649948 Publication Model: Print Cited Medium: Internet ISSN: 2214-3602 (Electronic) NLM ISO Abbreviation: J Neuromuscul Dis Subsets: MEDLINE

Deshwar, Ashish R.; Cytrynbaum, Cheryl; Murthy, Harsha; Zon, Jessica; Chitayat, David; Volpatti, Jonathan; Newbury-Ecob, Ruth; Ellard, Sian; Allen, Hana Lango; Yu, Emily P.; Noche, Ramil; Walker, Suzi; Scherer, Stephen W.; Mahida, Sonal; Elitt, Christopher M.; Nicolas, Gael; Goldenberg, Alice; Saugier-Veber, Pascale; Lecoquierre, Francois; Dabaj, Ivana; Meddaugh, Hannah; Marble, Michael; Keppler-Noreuil, Kim M.; Drayson, Lucy; Baranano, Kristin W.; Chassevent, Anna; Agre, Katie; Letard, Pascaline; Bilan, Frederic; Le Guyader, Gwenael; Laquerriere, Annie; Ramsey, Keri; Henderson, Lindsay; Brady, Lauren; Tarnopolsky, Mark; Bainbridge, Matthew; Friedman, Jennifer; Capri, Yline; Athayde, Larissa; Kok, Fernando; Gurgel-Giannetti, Juliana; Ramos, Luiza L. P.; Blaser, Susan; Dowling, James J.; Weksberg, Rosanna

BRAIN; MAR 2022, 146 6, p2285-p2297, 13p.

Foley, A.; Maio, N.; Todd, J.; Huryn, L.; Saade, D.; Neuhaus, S.; Donkervoort, S.; Hufnagel, R.; Stasheff, S.; Orbach, R.; Gurgel-Giannetti, J.; Gropman, A.; Rouault, T.; Bönnemann, C.

In Neuromuscular Disorders October 2023 33 Supplement 1:S133-S133

Foley, A.; Maio, N.; Todd, J.; Huryn, L.; Saade, D.; Neuhaus, S.; Donkervoort, S.; Hufnagel, R.; Stasheff, S.; Orbach, R.; Gurgel-Giannetti, J.; Gropman, A.; Rouault, T.; Bonnemann, C.

NEUROMUSCULAR DISORDERS; OCT 2023, 33 pS133-pS133, 1p. Supplement: SUPP1

Sampaio LPB; Universidade de São Paulo, Faculdade de Medicina, Hospital das Clínicas, São Paulo SP, Brazil.; Manreza MLG; Universidade de São Paulo, Faculdade de Medicina, Hospital das Clínicas, São Paulo SP, Brazil.; Pessoa A; Universidade Estadual do Ceará, Hospital Infantil Albert Sabin, Fortaleza CE, Brazil.; Gurgel-Giannetti J; Universidade Federal de Minas Gerais, Faculdade de Medicina, Hospital das Clínicas, Belo Horizonte MG, Brazil.; Coan AC; Universidade Estadual de Campinas, Faculdade de Ciências Médicas, Campinas SP, Brazil.; Júnior HVL; Instituto de Neurologia de Goiânia, Goiânia GO, Brazil.; Embiruçu EK; Universidade do Estado da Bahia, Hospital Universitário Professor Edgard Santos, Salvador BA, Brazil.; Henriques-Souza AMM; Instituto de Medicina Integral Professor Fernando Figueira, Recife PE, Brazil.; Kok F; Universidade de São Paulo, Faculdade de Medicina, Hospital das Clínicas, São Paulo SP, Brazil.

Publisher: Thieme Country of Publication: Germany NLM ID: 0125444 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1678-4227 (Electronic) Linking ISSN: 0004282X NLM ISO Abbreviation: Arq Neuropsiquiatr Subsets: MEDLINE

Araujo APQC; Universidade Federal do Rio de Janeiro, Faculdade de Medicina, Rio de Janeiro RJ, Brazil.; Saute JAM; Universidade Federal do Rio Grande do Sul, Faculdade de Medicina, Porto Alegre RS, Brazil.; Fortes CPDD; Instituto de Puericultura e Pediatria Martagão Gesteira, Equipe de Pesquisa em Doenças Neuromusculares, Rio de Janeiro RJ, Brazil.; França MC Jr; Universidade Estadual de Campinas, Faculdade de Ciências Médicas, Campinas SP, Brazil.; Pereira JA; Universidade Federal do Rio de Janeiro, Faculdade de Fisioterapia, Rio de Janeiro RJ, Brazil.; Albuquerque MAV; Universidade de São Paulo, Hospital das Clínicas, São Paulo SP, Brazil.; Carvalho AAS; Centro Universitário da Faculdade de Medicina do ABC, Santo André SP, Brazil.; Cavalcanti EBU; Hospital Sarah Kubitschek, Unidade Lago Norte, Brasília DF, Brazil.; Covaleski APPM; Associação de Assistência à Criança Deficiente, Ambulatório de Doenças Neuromusculares, Recife PE, Brazil.; Fagondes SC; Hospital das Clínicas de Porto Alegre, Laboratório do Sono, Porto Alegre RS, Brazil.; Gurgel-Giannetti J; Faculdade de Medicina, Universidade Federal de Minas Gerais, Belo Horizonte MG, Brazil.; Gonçalves MVM; Faculdade de Medicina, Universidade da Região de Joinville, Joinville SC, Brazil.; Martinez ARM; Serviços de Doenças Neuromusculares, Universidade Estadual de Campinas, Campinas SP, Brazil.; Coimbra Neto AR; Universidade Estadual de Campinas, Faculdade de Ciências Médicas, Campinas SP, Brazil.; Neves FR; Instituto de Puericultura e Pediatria Martagão Gesteira, Equipe de Pesquisa em Doenças Neuromusculares, Rio de Janeiro RJ, Brazil.; Nucci A; Universidade Estadual de Campinas, Faculdade de Ciências Médicas, Campinas SP, Brazil.; Nucera APCDS; Universidade Federal do Rio de Janeiro, Faculdade de Medicina, Rio de Janeiro RJ, Brazil.; Pessoa ALS; Universidade Estadual do Ceará, Faculdade de Medicina, Fortaleza CE, Brazil.; Rebel MF; Universidade Federal do Rio de Janeiro, Faculdade de Fisioterapia, Rio de Janeiro RJ, Brazil.; Santos FND; Universidade Federal do Rio de Janeiro, Faculdade de Medicina, Rio de Janeiro RJ, Brazil.; Scola RH; Universidade Federal do Paraná, Faculdade de Medicina, Curitiba PR, Brazil.; Sobreira CFDR; Universidade de São Paulo, Faculdade de Medicina de Ribeirão Preto, Ribeirão Preto SP, Brazil.

Publisher: Thieme Country of Publication: Germany NLM ID: 0125444 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1678-4227 (Electronic) Linking ISSN: 0004282X NLM ISO Abbreviation: Arq Neuropsiquiatr Subsets: MEDLINE