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Synaptotagmin 2 mutations cause an autosomal-dominant form of lambert-eaton myasthenic syndrome and nonprogressive motor neuropathy.
Herrmann, David N; Horvath, Rita; Sowden, Janet E; Gonzalez, Michael; Gonzales, Michael; Sanchez-Mejias, Avencia; Guan, Zhuo; Whittaker, Roger G; Almodovar, Jorge L; Lane, Maria; Bansagi, Boglarka; Pyle, Angela; Boczonadi, Veronika; Lochmüller, Hanns; Griffin, Helen; Chinnery, Patrick F; Lloyd, Thomas E; Littleton, J Troy; Zuchner, Stephan.
Afiliação
  • Herrmann DN; Department of Neurology, University of Rochester Medical Center, Rochester, NY 14642, USA.
  • Horvath R; Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne NE1 3BZ, UK.
  • Sowden JE; Department of Neurology, University of Rochester Medical Center, Rochester, NY 14642, USA.
  • Gonzales M; 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.
  • Sanchez-Mejias 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.
  • Guan Z; The Picower Institute for Learning and Memory, Department of Biology and Department of Brain and Cognitive Sciences, Massachusetts Institute of Technology, Cambridge, MA 02139, USA.
  • Whittaker RG; Institute of Neuroscience, Newcastle University, Newcastle upon Tyne NE2 4HH, UK.
  • Almodovar JL; Department of Neurology, Dartmouth Hitchcock Clinic, Geisel School of Medicine, Hanover, NH 03755, USA.
  • Lane M; Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne NE1 3BZ, UK.
  • Bansagi B; Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne NE1 3BZ, UK.
  • Pyle A; Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne NE1 3BZ, UK.
  • Boczonadi V; Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne NE1 3BZ, UK.
  • Lochmüller H; Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne NE1 3BZ, UK.
  • Griffin H; Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne NE1 3BZ, UK.
  • Chinnery PF; Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne NE1 3BZ, UK.
  • Lloyd TE; Departments of Neurology and Neuroscience, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA.
  • Littleton JT; The Picower Institute for Learning and Memory, Department of Biology and Department of Brain and Cognitive Sciences, Massachusetts Institute of Technology, Cambridge, MA 02139, 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. Electronic address: szuchner@med.miami.edu.
Am J Hum Genet ; 95(3): 332-9, 2014 Sep 04.
Article em En | MEDLINE | ID: mdl-25192047
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Síndrome Miastênica de Lambert-Eaton / Doença dos Neurônios Motores / Doenças do Sistema Nervoso Periférico / Sinaptotagmina II / Genes Dominantes / Mutação Idioma: En Ano de publicação: 2014 Tipo de documento: Article
Texto completo
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XML
PubMed Links
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Síndrome Miastênica de Lambert-Eaton / Doença dos Neurônios Motores / Doenças do Sistema Nervoso Periférico / Sinaptotagmina II / Genes Dominantes / Mutação Idioma: En Ano de publicação: 2014 Tipo de documento: Article