المؤلفون: Zaros, C, Genin, E, Hellman, Urban, Saporta, MA, Languille, L, Wadington-Cruz, M, Suhr, Ole B, Misrahi, M, Planté-Bordeneuve, V

المصدر: Annals of Human Genetics. 72(Pt 4):478-84

وصف الملف: print

URL الوصول: https://urn.kb.se/resolve?urn=urn:nbn:se:umu:diva-22851

المؤلفون: Pellerin, D, Danzi, MC, Wilke, C, Renaud, M, Fazal, S, Dicaire, M, Scriba, CK, Ashton, C, Yanick, C, Beijer, D, Rebelo, A, Rocca, C, Jaunmuktane, Z, Sonnen, JA, Larivière, R, Genis, D, Porcel, L, Choquet, K, Sakalla, R, Provost, S, Tétreault, M, Reiling, SJ, Nagy, S, Nishadham, V, Purushottam, M, Vengalil, S, Bardhan, M, Nalini, A, Chen, Z, Mathieu, J, Massie, R, Chalk, CH, Lafontaine, A, Evoy, F, Rioux, M, Ragoussis, J, Boycott, KM, Dubé, M, Duquette, A, Houlden, H, Ravenscroft, G, Laing, NG, Lamont, P, Saporta, MA, Schüle, R, Schöls, L, La Piana, R, Synofzik, M, Zuchner, S, Brais, B

المصدر: The Canadian Journal of Neurological Sciences; June 2023, Vol. 50 Issue: Supplement 2 pS46-S46, 1p

المؤلفون: Patzkó A, Bai Y, Saporta MA, Katona I, Wu X, Vizzuso D, Feltri ML, Wang S, Dillon LM, Kamholz J, Kirschner D, Sarkar FH, Wrabetz L, Shy ME, Patzkó, Agnes, Bai, Yunhong, Saporta, Mario A, Katona, István, Wu, Xingyao, Vizzuso, Domenica

المصدر: Brain: A Journal of Neurology; Dec2012, Vol. 135 Issue 12, p3551-3566, 16p

المؤلفون: Saporta MA, Shy BR, Patzko A, Bai Y, Pennuto M, Ferri C, Tinelli E, Saveri P, Kirschner D, Crowther M, Southwood C, Wu X, Gow A, Feltri ML, Wrabetz L, Shy ME, Saporta, Mario A C, Shy, Brian R, Patzko, Agnes, Bai, Yunhong

المصدر: Brain: A Journal of Neurology; Jul2012, Vol. 135 Issue 7, p2032-2047, 16p

المؤلفون: Saporta MA, Katona I, Lewis RA, Masse S, Shy ME, Li J, Saporta, Mario A, Katona, Istvan, Lewis, Richard A, Masse, Stacey, Shy, Michael E, Li, Jun

المصدر: Brain: A Journal of Neurology; Dec2009, Vol. 132 Issue 12, p3263-3273, 11p

المؤلفون: Medina J; Dr. John T. Macdonald Foundation Department of Human Genetics and John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, FL 33136, USA., Rebelo A; Dr. John T. Macdonald Foundation Department of Human Genetics and John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, FL 33136, USA., Danzi MC; Dr. John T. Macdonald Foundation Department of Human Genetics and John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, FL 33136, USA., Jacobs EH; Department of Neurology, University of Miami Miller School of Medicine, Miami, FL, USA.; Medical Scientist Training Program, University of Miami Miller School of Medicine, Miami, FL 33136, USA., Xu IRL; Dr. John T. Macdonald Foundation Department of Human Genetics and John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, FL 33136, USA., Ahrens KP; Dr. John T. Macdonald Foundation Department of Human Genetics and John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, FL 33136, USA., Chen S; Dr. John T. Macdonald Foundation Department of Human Genetics and John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, FL 33136, USA., Raposo J; Dr. John T. Macdonald Foundation Department of Human Genetics and John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, FL 33136, USA., Yanick C; Department of Neurology, University of Miami Miller School of Medicine, Miami, FL, USA., Zuchner S; Dr. John T. Macdonald Foundation Department of Human Genetics and John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, FL 33136, USA., Saporta MA; Department of Neurology, University of Miami Miller School of Medicine, Miami, FL, USA.

المصدر: Brain : a journal of neurology [Brain] 2024 Jul 15. Date of Electronic Publication: 2024 Jul 15.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Oxford University Press Country of Publication: England NLM ID: 0372537 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1460-2156 (Electronic) Linking ISSN: 00068950 NLM ISO Abbreviation: Brain Subsets: MEDLINE

المؤلفون: Pellerin D, Méreaux JL, Boluda S, Danzi MC, Dicaire MJ, Davoine CS, Genis D, Spurdens G, Ashton C, Hammond JM, Gerhart BJ, Chelban V, Le PU, Safisamghabadi M, Yanick C, Lee H, Nageshwaran SK, Matos-Rodrigues G, Jaunmuktane Z, Petrecca K, Akbarian S, Nussenzweig A, Usdin K, Renaud M, Bonnet C, Ravenscroft G, Saporta MA, Napierala JS, Houlden H, Deveson IW, Napierala M, Brice A, Molina Porcel L, Seilhean D, Zuchner S, Durr A, Brais B

المصدر: MedRxiv : the preprint server for health sciences [medRxiv] 2024 Jul 03. Date of Electronic Publication: 2024 Jul 03.

نوع المنشور: Journal Article; Preprint

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

المؤلفون: Donkervoort S; Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, Maryland, USA., Mohassel P; Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, Maryland, USA., O'Leary M; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, Massachusetts, USA., Bonner DE; Stanford Center for Undiagnosed Diseases, Stanford University, Stanford, California, USA.; Department of Pediatrics, Medical Genetics, Stanford University School of Medicine, Stanford, California, USA., Hartley T; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Ontario, Canada., Acquaye N; Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, Maryland, USA., Brull A; Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, Maryland, USA., Mozaffar T; Department of Neurology, University of California, Irvine, California, USA.; Department of Pathology & Laboratory Medicine, University of California, Irvine, California, USA., Saporta MA; Department of Neurology, University of Miami Miller School of Medicine, Miami, Florida, USA., Dyment DA; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Ontario, Canada., Sampson JB; Stanford Center for Undiagnosed Diseases, Stanford University, Stanford, California, USA.; Department of Neurology, Stanford University School of Medicine, Stanford, California, USA., Pajusalu S; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, Massachusetts, USA.; Genetics and Personalized Medicine Clinic, Tartu University Hospital, Tartu, Estonia.; Department of Clinical Genetics, Institute of Clinical Medicine, University of Tartu, Tartu, Estonia., Austin-Tse C; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, Massachusetts, USA.; Center for Genomic Medicine, Massachusetts General Hospital, Harvard Medical School, Boston, Massachusetts, USA., Hurth K; Department of Pathology, Keck School of Medicine, University of Southern California, Los Angeles, California, USA., Cohen JS; Department of Neurology and Developmental Medicine, Hugo W. Moser Research Institute, Kennedy Krieger Institute, Baltimore, Maryland, USA.; Department of Neurology, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA., McWalter K; GeneDx, Gaithersburg, Maryland, USA., Warman-Chardon J; Department of Medicine, The Ottawa Hospital, University of Ottawa, Ottawa, Ontario, Canada., Crunk A; GeneDx, Gaithersburg, Maryland, USA., Foley AR; Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, Maryland, USA., Mammen AL; Department of Neurology, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA.; Muscle Disease Unit, National Institute of Arthritis and Musculoskeletal and Skin Diseases, National Institutes of Health, Bethesda, Maryland, USA.; Department of Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA., Wheeler MT; Stanford Center for Undiagnosed Diseases, Stanford University, Stanford, California, USA.; Division of Cardiovascular Medicine, Stanford University School of Medicine, Stanford, California, USA., O'Donnell-Luria A; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, Massachusetts, USA.; Center for Genomic Medicine, Massachusetts General Hospital, Harvard Medical School, Boston, Massachusetts, USA.; Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA., Bönnemann CG; Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, Maryland, USA.

مؤلفون مشاركون: Undiagnosed Diseases Network

المصدر: Annals of clinical and translational neurology [Ann Clin Transl Neurol] 2024 Mar; Vol. 11 (3), pp. 629-640. Date of Electronic Publication: 2024 Feb 04.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Wiley Periodicals, Inc on behalf of American Neurological Association Country of Publication: United States NLM ID: 101623278 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2328-9503 (Electronic) Linking ISSN: 23289503 NLM ISO Abbreviation: Ann Clin Transl Neurol Subsets: MEDLINE

مواضيع طبية MeSH: Muscular Diseases*/genetics , Muscular Diseases*/pathology , Cardiomyopathies*, Adult ; Humans ; Muscle, Skeletal/diagnostic imaging ; Muscle, Skeletal/pathology ; Actinin/genetics ; Phenotype

المؤلفون: Record CJ; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, WC1N 3BG, UK., Skorupinska M; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, WC1N 3BG, UK., Laura M; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, WC1N 3BG, UK., Rossor AM; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, WC1N 3BG, UK., Pareyson D; Department of Clinical Neurosciences, Fondazione IRCCS Istituto Neurologico Carlo Besta, 20133 Milan, Italy., Pisciotta C; Department of Clinical Neurosciences, Fondazione IRCCS Istituto Neurologico Carlo Besta, 20133 Milan, Italy., Feely SME; Department of Neurology, University of Iowa Carver College of Medicine, Iowa City, IA 52242, USA., Lloyd TE; Departments of Neurology and Neuroscience, John Hopkins University School of Medicine, Baltimore, MD 21205, USA., Horvath R; Department of Clinical Neurosciences, University of Cambridge, Cambridge, CB2 0PY, UK., Sadjadi R; Department of Neurology, Massachusetts General Hospital, Boston, MA 02114, USA., Herrmann DN; Department of Neurology, University of Rochester, Rochester, NY 14618, USA., Li J; Department of Neurology, Houston Methodist Hospital, Houston, TX 77030, USA., Walk D; Department of Neurology, University of Minnesota, Minneapolis, MN 55455, USA., Yum SW; Department of Neurology, The Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA 19104, USA.; Department of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA., Lewis RA; Department of Neurology, Cedars-Sinai Medical Center, Los Angeles, CA 90048, USA., Day J; Department of Neurology, Stanford University, Stanford, CA 94304, USA., Burns J; University of Sydney School of Health Sciences, Faculty of Medicine and Health; Paediatric Gait Analysis Service of New South Wales, Sydney Children's Hospitals Network, Sydney, 2145Australia., Finkel RS; Department of Neurology, Nemours Children's Hospital, Orlando, FL 32827, USA., Saporta MA; Department of Neurology, University of Miami Miller School of Medicine, Miami, FL 33136, USA., Ramchandren S; Department of Neurology, Wayne State University, Detroit, MI 48201, USA.; The Janssen Pharmaceutical Companies of Johnson & Johnson, Titusville, NJ 08560, USA., Weiss MD; Department of Neurology, University of Washington, Seattle, WA, 98195USA., Acsadi G; Connecticut Children's Medical Center, Hartford, CT 06106, USA., Fridman V; Department of Neurology, University of Colorado Denver School of Medicine, Aurora, CO 80045, USA., Muntoni F; The Dubowitz Neuromuscular Centre, NIHR Great Ormond Street Hospital Biomedical Research Centre, Great Ormond Street Institute of Child Health University College London, and Great Ormond Street Hospital Trust, London, WC1N 1EH, UK., Poh R; Neurogenetics Laboratory, National Hospital for Neurology and Neurosurgery, London, WC1N 3BG, UK., Polke JM; Neurogenetics Laboratory, National Hospital for Neurology and Neurosurgery, London, WC1N 3BG, UK., Zuchner S; Dr. John T. Macdonald Foundation Department of Human Genetics and John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, FL 33136, USA., Shy ME; Department of Neurology, University of Iowa Carver College of Medicine, Iowa City, IA 52242, USA., Scherer SS; Department of Neurology, The Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA 19104, USA., Reilly MM; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, WC1N 3BG, UK.

مؤلفون مشاركون: Inherited Neuropathies Consortium—Rare Disease Clinical Research Network

المصدر: Brain : a journal of neurology [Brain] 2023 Oct 03; Vol. 146 (10), pp. 4336-4349.

نوع المنشور: Journal Article; Multicenter Study; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't

بيانات الدورية: 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

مواضيع طبية MeSH: Charcot-Marie-Tooth Disease*/pathology, Female ; Humans ; Male ; Connexins/genetics ; Mutation/genetics ; Mutation, Missense ; Phenotype ; Gap Junction beta-1 Protein

SCR Disease Name: Charcot-Marie-Tooth disease, X-linked, 1

المؤلفون: Cutrupi AN; Northcott Neuroscience Laboratory, ANZAC Research Institute, Sydney, NSW 2139, Australia.; Faculty of Medicine and Health, University of Sydney, Sydney, NSW 2006, Australia., Narayanan RK; Northcott Neuroscience Laboratory, ANZAC Research Institute, Sydney, NSW 2139, Australia.; Faculty of Medicine and Health, University of Sydney, Sydney, NSW 2006, Australia., Perez-Siles G; Northcott Neuroscience Laboratory, ANZAC Research Institute, Sydney, NSW 2139, Australia.; Faculty of Medicine and Health, University of Sydney, Sydney, NSW 2006, Australia., Grosz BR; Northcott Neuroscience Laboratory, ANZAC Research Institute, Sydney, NSW 2139, Australia.; Faculty of Medicine and Health, University of Sydney, Sydney, NSW 2006, Australia., Lai K; Northcott Neuroscience Laboratory, ANZAC Research Institute, Sydney, NSW 2139, Australia.; Ancestry and Health Genomics Laboratory, Charles Perkins Centre, Faculty of Medicine and Health, University of Sydney, Sydney, NSW 2006, Australia., Boyling A; Northcott Neuroscience Laboratory, ANZAC Research Institute, Sydney, NSW 2139, Australia.; Faculty of Medicine and Health, University of Sydney, Sydney, NSW 2006, Australia., Ellis M; Northcott Neuroscience Laboratory, ANZAC Research Institute, Sydney, NSW 2139, Australia.; Faculty of Medicine and Health, University of Sydney, Sydney, NSW 2006, Australia., Lin RCY; Faculty of Medicine and Health, University of Sydney, Sydney, NSW 2006, Australia.; Centre for Infectious Diseases and Microbiology, Westmead Institute for Medical Research, Sydney, NSW 2145, Australia., Neumann B; Monash Biomedicine Discovery Institute and Department of Anatomy and Developmental Biology, Monash University, Melbourne, VIC 3800, Australia., Mao D; Institute for Integrated Cell-Material Sciences and Institute for Chemical Research, Kyoto University, Uji 611-0011, Japan., Uesugi M; Institute for Integrated Cell-Material Sciences and Institute for Chemical Research, Kyoto University, Uji 611-0011, Japan., Nicholson GA; Northcott Neuroscience Laboratory, ANZAC Research Institute, Sydney, NSW 2139, Australia.; Molecular Medicine Laboratory, Concord Repatriation General Hospital, Sydney, NSW 2139, Australia., Vucic S; Faculty of Medicine and Health, University of Sydney, Sydney, NSW 2006, Australia.; Brain and Nerve Research Centre, Concord Repatriation General Hospital, Sydney, NSW 2139, Australia., Saporta MA; Department of Neurology, University of Miami Miller School of Medicine, Miami, FL 33136, USA., Kennerson ML; Northcott Neuroscience Laboratory, ANZAC Research Institute, Sydney, NSW 2139, Australia.; Faculty of Medicine and Health, University of Sydney, Sydney, NSW 2006, Australia.; Molecular Medicine Laboratory, Concord Repatriation General Hospital, Sydney, NSW 2139, Australia.

المصدر: Brain : a journal of neurology [Brain] 2023 Mar 01; Vol. 146 (3), pp. 880-897.

نوع المنشور: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't

بيانات الدورية: 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

مواضيع طبية MeSH: Muscular Atrophy, Spinal*/genetics , Ubiquitin-Protein Ligases*/genetics, Animals ; Mutation ; Ubiquitin/genetics ; Humans

SCR Disease Name: Neuronopathy, Distal Hereditary Motor, Type I