부산대학교 도서관

Freiburg, C.D.; Solomon-Degefa, H.; Schmitz, S.; Schiavinato, A.; Paulsson, M.; Wagener, R.; Freiburg, P.; Behrmann, E.; Mörgelin, M.; Bolduc, V.; Bönnemann, C.G.; Ala, P.; Muntoni, F.

In: Human Mutation. (Human Mutation, 2023, 2023)

Solomon-Degefa, H.; Freiburg, C.D.; Paulsson, M.; Wagener, R.; Gebauer, J.M.; Meckelburg, P.; Baumann, U.; Behrmann, E.; Jeffries, C.M.; Svergun, D.I.; Bird, L.E.; Owens, R.J.; Werner, J.M.

In: Journal of Biological Chemistry. (Journal of Biological Chemistry, 4 September 2020, 295(36):12755-12771)

Bolduc, V.; Reghan Foley, A.; Sarathy, A.; Donkervoort, S.; Hu, Y.; Chen, G.S.; Sizov, K.; Nalls, M.; Bönnemann, C.G.; Solomon-Degefa, H.; Wagener, R.; Zhou, H.; Aguti, S.; Sarkozy, A.; Ferlini, A.; Muntoni, F.; Cummings, B.B.; Lek, M.; Tukiainen, T.; MacArthur, D.G.; Marshall, J.L.; Regev, O.; Marek-Yagel, D.; Butterfield, R.J.; Jou, C.; Jimenez-Mallebrera, C.; Li, Y.; Gartioux, C.; Mamchaoui, K.; Allamand, V.; Gualandi, F.; Hanssen, E.; Wilton, S.D.; Lamandé, S.R.

In: JCI Insight. (JCI Insight, 21 March 2019, 4(6))

Foley AR; Neuromuscular and Neurogenetic Disorders of Childhood Section, Neurogenetics Branch, National Institute of Neurological Disorders and Stroke, NIH, Bethesda, MD 20892, USA.; Bolduc V; Neuromuscular and Neurogenetic Disorders of Childhood Section, Neurogenetics Branch, National Institute of Neurological Disorders and Stroke, NIH, Bethesda, MD 20892, USA.; Guirguis F; Neuromuscular and Neurogenetic Disorders of Childhood Section, Neurogenetics Branch, National Institute of Neurological Disorders and Stroke, NIH, Bethesda, MD 20892, USA.; Donkervoort S; Neuromuscular and Neurogenetic Disorders of Childhood Section, Neurogenetics Branch, National Institute of Neurological Disorders and Stroke, NIH, Bethesda, MD 20892, USA.; Hu Y; Neuromuscular and Neurogenetic Disorders of Childhood Section, Neurogenetics Branch, National Institute of Neurological Disorders and Stroke, NIH, Bethesda, MD 20892, USA.; Orbach R; Neuromuscular and Neurogenetic Disorders of Childhood Section, Neurogenetics Branch, National Institute of Neurological Disorders and Stroke, NIH, Bethesda, MD 20892, USA.; Dana-Dwek Children's Hospital, Tel Aviv 64239, Israel.; McCarty RM; Neuromuscular and Neurogenetic Disorders of Childhood Section, Neurogenetics Branch, National Institute of Neurological Disorders and Stroke, NIH, Bethesda, MD 20892, USA.; Sarathy A; Neuromuscular and Neurogenetic Disorders of Childhood Section, Neurogenetics Branch, National Institute of Neurological Disorders and Stroke, NIH, Bethesda, MD 20892, USA.; Norato G; Clinical Trials Unit, National Institute of Neurological Disorders and Stroke, NIH, Bethesda, MD 20892, USA.; Cummings BB; Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA.; Lek M; Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA.; Sarkozy A; Dubowitz Neuromuscular Centre, UCL Great Ormond Street Institute of Child Health and Great Ormond Street Hospital for Children, London WC1N 1EH, UK.; Butterfield RJ; Departments of Neurology and Pediatrics, University of Utah, Salt Lake City, UT 84132, USA.; Kirschner J; Department of Neuropediatrics and Muscle Disorders, Medical Center - University of Freiburg, Faculty of Medicine, Freiburg 79110, Germany.; Nascimento A; Neuromuscular Unit, Neuropediatrics Department, Institut de Recerca Sant Joan de Déu, Hospital Sant Joan de Déu. CIBERER ISCIII. Barcelona 08950, Spain.; Benito DN; Neuromuscular Unit, Neuropediatrics Department, Institut de Recerca Sant Joan de Déu, Hospital Sant Joan de Déu. CIBERER ISCIII. Barcelona 08950, Spain.; Quijano-Roy S; Garches Neuromuscular Reference Center, Child Neurology and ICU Department, APHP Raymond Poincare University Hospital (UVSQ Paris Saclay), Garches 92380, France.; Stojkovic T; Centre de Référence des Maladies Neuromusculaires Nord/Est/Île-de-France, Institut de Myologie, Hôpital Pitié-Salpêtrière, AP-HP, Paris 75013, France.; Merlini L; Department of Biomedical and Neuromotor Sciences, University of Bologna, Bologna 40126, Italy.; Comi G; Neurology Unit, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy.; Ryan M; Department of Neurology, The Royal Children's Hospital, Parkville, VIC 3052, Australia.; McDonald D; Department of Neurodisability, Children's Health Ireland at Tallaght, Dublin 24 Ireland.; Munot P; Dubowitz Neuromuscular Centre, UCL Great Ormond Street Institute of Child Health and Great Ormond Street Hospital for Children, London WC1N 1EH, UK.; Yoon G; Department of Pediatrics, Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, University of Toronto, Toronto, ON M5G 1X8, Canada.; Leung E; Department of Pediatrics and Child Health, University of Manitoba, Winnipeg, MB R3A 1S1, Canada.; Finanger E; Department of Pediatrics and Neurology, Oregon Health & Science University, Portland, OR 97239, USA.; Leach ME; Neuromuscular and Neurogenetic Disorders of Childhood Section, Neurogenetics Branch, National Institute of Neurological Disorders and Stroke, NIH, Bethesda, MD 20892, USA.; Department of Pediatrics and Neurology, Oregon Health & Science University, Portland, OR 97239, USA.; Collins J; Divisions of Neurology and Pediatrics, Cincinnati Children's Hospital Medical Center, Cincinnati, OH 45229, USA.; Tian C; Divisions of Neurology and Pediatrics, Cincinnati Children's Hospital Medical Center, Cincinnati, OH 45229, USA.; Mohassel P; Neuromuscular and Neurogenetic Disorders of Childhood Section, Neurogenetics Branch, National Institute of Neurological Disorders and Stroke, NIH, Bethesda, MD 20892, USA.; Neuhaus SB; Neuromuscular and Neurogenetic Disorders of Childhood Section, Neurogenetics Branch, National Institute of Neurological Disorders and Stroke, NIH, Bethesda, MD 20892, USA.; Saade D; Neuromuscular and Neurogenetic Disorders of Childhood Section, Neurogenetics Branch, National Institute of Neurological Disorders and Stroke, NIH, Bethesda, MD 20892, USA.; Cocanougher BT; Division of Medical Genetics, Department of Pediatrics, Duke University, Durham, NC 27710, USA.; Chu ML; Department of Neurology, New York University School of Medicine, New York, NY 10016, USA.; Scavina M; Division of Neurology, Nemours Children's Hospital Delaware, Wilmington, DE 19803, USA.; Grosmann C; Department of Neurology, Rady Children's Hospital University of California San Diego, San Diego, CA 92123, USA.; Richardson R; Department of Neurology, Gillette Children's Specialty Healthcare, St Paul, MN 55101, USA.; Kossak BD; Department of Neurology, Dartmouth Hitchcock Medical Center, Lebanon, NH 03766, USA.; Gospe SM Jr; Department of Neurology and Pediatrics, University of Washington, Seattle, WA 98105, USA.; Bhise V; Departments of Pediatrics and Neurology, Rutgers Robert Wood Johnson Medical School, Rutgers University, New Brunswick, NJ 08901, USA.; Taurina G; Children's Clinical University Hospital, Medical Genetics and Prenatal Diagnostic Clinic, Riga 1004, Latvia.; Lace B; Riga East Clinical University, Institute of Clinical and Preventive Medicine of the University of Latvia, Riga 1586, Latvia.; Troncoso M; Pediatric Neuropsychiatry Service, Hospital Clínico San Borja Arriarán, Pediatric Department, Universidad de Chile, Santiago 1234, Chile.; Shohat M; The Genomics Unit, Sheba Cancer Research Center, Sheba Medical Center, Ramat Gan 52621, Israel.; Shalata A; The Simon Winter Institute for Human Genetics, Bnai Zion Medical Center, The Ruth and Bruce Rappaport Faculty of Medicine, Technion-Israel Institute of Technology, Haifa 32000, Israel.; Chan SHS; Department of Paediatrics and Adolescent Medicine, Li Ka Shing Faculty of Medicine, The University of Hong Kong, Hong Kong, Special Administrative Region, China.; Jokela M; Clinical Neurosciences, University of Turku, Turku, Finland and Neurocenter, Turku University Hospital, Turku 20520, Finland.; Neuromuscular Research Center, Tampere University and Tampere University Hospital, Tampere 33101, Finland.; Palmio J; Neuromuscular Research Center, Tampere University and Tampere University Hospital, Tampere 33101, Finland.; Haliloğlu G; Division of Pediatric Neurology, Department of Pediatrics, Hacettepe University Faculty of Medicine, Ankara 06230, Turkey.; Jou C; Pathology department, Institut de Recerca Sant Joan de Déu, Hospital Sant Joan de Déu, Barcelona 08950, Spain.; Gartioux C; INSERM, Institut de Myologie, Centre de Recherche en Myologie, Sorbonne Université, Paris 75013, France.; Solomon-Degefa H; Center for Biochemistry, Medical Faculty, University of Cologne, Cologne 50931, Germany.; Freiburg CD; Center for Biochemistry, Medical Faculty, University of Cologne, Cologne 50931, Germany.; Schiavinato A; Center for Biochemistry, Medical Faculty, University of Cologne, Cologne 50931, Germany.; Zhou H; National Institute of Health Research, Great Ormond Street Hospital Biomedical Research Centre, Genetics and Genomic Medicine Research and Teaching Department, Great Ormond Street Institute of Child Health, University College London, London WC1N 1EH, UK.; Aguti S; Neurodegenerative Disease Department, UCL Queen Square Institute of Neurology, University College London, London WC1N 3BG, UK.; Nevo Y; Institute of Pediatric Neurology, Schneider Children's Medical Center of Israel, Petach Tikva, Israel, Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv 69978, Israel.; Nishino I; Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry, Tokyo 187-8502, Japan.; Jimenez-Mallebrera C; Laboratorio de Investigación Aplicada en Enfermedades Neuromusculares, Unidad de Patología Neuromuscular, Servicio de Neuropediatría, Institut de Recerca Sant Joan de Déu, Barcelona 08950, Spain.; Lamandé SR; Department of Paediatrics, University of Melbourne, The Murdoch Children's Research Institute, Parkville, VIC 3052, Australia.; Allamand V; INSERM, Institut de Myologie, Centre de Recherche en Myologie, Sorbonne Université, Paris 75013, France.; Gualandi F; Unit of Medical Genetics, Department of Medical Sciences and Department of Mother and Child, University Hospital S. Anna Ferrara, Ferrara 44121, Italy.; Ferlini A; Unit of Medical Genetics, Department of Medical Sciences and Department of Mother and Child, University Hospital S. Anna Ferrara, Ferrara 44121, Italy.; MacArthur DG; Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA.; Wilton SD; Centre for Molecular Medicine and Innovative Therapeutics, Health Futures Institute, Murdoch University; Centre for Neuromuscular and Neurological Disorders, Perron Institute for Neurological and Translational Science, The University of Western Australia, Nedlands, WA 6009, Australia.; Wagener R; Center for Biochemistry, Medical Faculty, University of Cologne, Cologne 50931, Germany.; Bertini E; Research Unit of Neuromuscular and Neurodegenerative Disorders, IRCCS Ospedale Pediatrico Bambino Gesù, Rome 00146, Italy.; Muntoni F; Dubowitz Neuromuscular Centre, UCL Great Ormond Street Institute of Child Health and Great Ormond Street Hospital for Children, London WC1N 1EH, UK.; National Institute of Health Research, Great Ormond Street Hospital Biomedical Research Centre, London WC1N 1EH, UK.; Bönnemann CG; Neuromuscular and Neurogenetic Disorders of Childhood Section, Neurogenetics Branch, National Institute of Neurological Disorders and Stroke, NIH, Bethesda, MD 20892, USA.

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