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OPTN 691_692insAG is a founder mutation causing recessive ALS and increased risk in heterozygotes.
Goldstein, Orly; Nayshool, Omri; Nefussy, Beatrice; Traynor, Bryan J; Renton, Alan E; Gana-Weisz, Mali; Drory, Vivian E; Orr-Urtreger, Avi.
Afiliação
  • Goldstein O; From The Genetic Institute (O.G., O.N., M.G.-W., A.O.-U.) and the Neuromuscular Service, Department of Neurology (B.N., V.E.D.), Tel Aviv Sourasky Medical Center, Israel; the Laboratory of Neurogenetics (B.J.T., A.E.R.), National Institute on Aging, Bethesda, MD; and the Sackler Faculty of Medicine
  • Nayshool O; From The Genetic Institute (O.G., O.N., M.G.-W., A.O.-U.) and the Neuromuscular Service, Department of Neurology (B.N., V.E.D.), Tel Aviv Sourasky Medical Center, Israel; the Laboratory of Neurogenetics (B.J.T., A.E.R.), National Institute on Aging, Bethesda, MD; and the Sackler Faculty of Medicine
  • Nefussy B; From The Genetic Institute (O.G., O.N., M.G.-W., A.O.-U.) and the Neuromuscular Service, Department of Neurology (B.N., V.E.D.), Tel Aviv Sourasky Medical Center, Israel; the Laboratory of Neurogenetics (B.J.T., A.E.R.), National Institute on Aging, Bethesda, MD; and the Sackler Faculty of Medicine
  • Traynor BJ; From The Genetic Institute (O.G., O.N., M.G.-W., A.O.-U.) and the Neuromuscular Service, Department of Neurology (B.N., V.E.D.), Tel Aviv Sourasky Medical Center, Israel; the Laboratory of Neurogenetics (B.J.T., A.E.R.), National Institute on Aging, Bethesda, MD; and the Sackler Faculty of Medicine
  • Renton AE; From The Genetic Institute (O.G., O.N., M.G.-W., A.O.-U.) and the Neuromuscular Service, Department of Neurology (B.N., V.E.D.), Tel Aviv Sourasky Medical Center, Israel; the Laboratory of Neurogenetics (B.J.T., A.E.R.), National Institute on Aging, Bethesda, MD; and the Sackler Faculty of Medicine
  • Gana-Weisz M; From The Genetic Institute (O.G., O.N., M.G.-W., A.O.-U.) and the Neuromuscular Service, Department of Neurology (B.N., V.E.D.), Tel Aviv Sourasky Medical Center, Israel; the Laboratory of Neurogenetics (B.J.T., A.E.R.), National Institute on Aging, Bethesda, MD; and the Sackler Faculty of Medicine
  • Drory VE; From The Genetic Institute (O.G., O.N., M.G.-W., A.O.-U.) and the Neuromuscular Service, Department of Neurology (B.N., V.E.D.), Tel Aviv Sourasky Medical Center, Israel; the Laboratory of Neurogenetics (B.J.T., A.E.R.), National Institute on Aging, Bethesda, MD; and the Sackler Faculty of Medicine
  • Orr-Urtreger A; From The Genetic Institute (O.G., O.N., M.G.-W., A.O.-U.) and the Neuromuscular Service, Department of Neurology (B.N., V.E.D.), Tel Aviv Sourasky Medical Center, Israel; the Laboratory of Neurogenetics (B.J.T., A.E.R.), National Institute on Aging, Bethesda, MD; and the Sackler Faculty of Medicine
Neurology ; 86(5): 446-53, 2016 Feb 02.
Article em En | MEDLINE | ID: mdl-26740678
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Judeus / Efeito Fundador / Predisposição Genética para Doença / Mutação de Sentido Incorreto / Fator de Transcrição TFIIIA / Heterozigoto / Esclerose Lateral Amiotrófica Tipo de estudo: Diagnostic_studies / Etiology_studies / Prognostic_studies / Risk_factors_studies Limite: Adult / Aged / Aged80 / Female / Humans / Male / Middle aged País/Região como assunto: Africa Idioma: En Ano de publicação: 2016 Tipo de documento: Article
Texto completo
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Judeus / Efeito Fundador / Predisposição Genética para Doença / Mutação de Sentido Incorreto / Fator de Transcrição TFIIIA / Heterozigoto / Esclerose Lateral Amiotrófica Tipo de estudo: Diagnostic_studies / Etiology_studies / Prognostic_studies / Risk_factors_studies Limite: Adult / Aged / Aged80 / Female / Humans / Male / Middle aged País/Região como assunto: Africa Idioma: En Ano de publicação: 2016 Tipo de documento: Article