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Electrophysiologic features of SYT2 mutations causing a treatable neuromuscular syndrome.
Whittaker, Roger G; Herrmann, David N; Bansagi, Boglarka; Hasan, Bashar Awwad Shiekh; Lofra, Robert Muni; Logigian, Eric L; Sowden, Janet E; Almodovar, Jorge L; Littleton, J Troy; Zuchner, Stephan; Horvath, Rita; Lochmüller, Hanns.
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  • Whittaker RG; From the Institute of Neuroscience (R.G.W., B.A.S.H.) and John Walton Muscular Dystrophy Research Centre, Institute of Genetic Medicine (B.B., R.M.L., R.H., H.L.), Newcastle University, Newcastle, UK; Department of Neurology (D.N.H., E.L.L., J.E.S.), University of Rochester Medical Center, NY; Depar
  • Herrmann DN; From the Institute of Neuroscience (R.G.W., B.A.S.H.) and John Walton Muscular Dystrophy Research Centre, Institute of Genetic Medicine (B.B., R.M.L., R.H., H.L.), Newcastle University, Newcastle, UK; Department of Neurology (D.N.H., E.L.L., J.E.S.), University of Rochester Medical Center, NY; Depar
  • Bansagi B; From the Institute of Neuroscience (R.G.W., B.A.S.H.) and John Walton Muscular Dystrophy Research Centre, Institute of Genetic Medicine (B.B., R.M.L., R.H., H.L.), Newcastle University, Newcastle, UK; Department of Neurology (D.N.H., E.L.L., J.E.S.), University of Rochester Medical Center, NY; Depar
  • Hasan BA; From the Institute of Neuroscience (R.G.W., B.A.S.H.) and John Walton Muscular Dystrophy Research Centre, Institute of Genetic Medicine (B.B., R.M.L., R.H., H.L.), Newcastle University, Newcastle, UK; Department of Neurology (D.N.H., E.L.L., J.E.S.), University of Rochester Medical Center, NY; Depar
  • Lofra RM; From the Institute of Neuroscience (R.G.W., B.A.S.H.) and John Walton Muscular Dystrophy Research Centre, Institute of Genetic Medicine (B.B., R.M.L., R.H., H.L.), Newcastle University, Newcastle, UK; Department of Neurology (D.N.H., E.L.L., J.E.S.), University of Rochester Medical Center, NY; Depar
  • Logigian EL; From the Institute of Neuroscience (R.G.W., B.A.S.H.) and John Walton Muscular Dystrophy Research Centre, Institute of Genetic Medicine (B.B., R.M.L., R.H., H.L.), Newcastle University, Newcastle, UK; Department of Neurology (D.N.H., E.L.L., J.E.S.), University of Rochester Medical Center, NY; Depar
  • Sowden JE; From the Institute of Neuroscience (R.G.W., B.A.S.H.) and John Walton Muscular Dystrophy Research Centre, Institute of Genetic Medicine (B.B., R.M.L., R.H., H.L.), Newcastle University, Newcastle, UK; Department of Neurology (D.N.H., E.L.L., J.E.S.), University of Rochester Medical Center, NY; Depar
  • Almodovar JL; From the Institute of Neuroscience (R.G.W., B.A.S.H.) and John Walton Muscular Dystrophy Research Centre, Institute of Genetic Medicine (B.B., R.M.L., R.H., H.L.), Newcastle University, Newcastle, UK; Department of Neurology (D.N.H., E.L.L., J.E.S.), University of Rochester Medical Center, NY; Depar
  • Littleton JT; From the Institute of Neuroscience (R.G.W., B.A.S.H.) and John Walton Muscular Dystrophy Research Centre, Institute of Genetic Medicine (B.B., R.M.L., R.H., H.L.), Newcastle University, Newcastle, UK; Department of Neurology (D.N.H., E.L.L., J.E.S.), University of Rochester Medical Center, NY; Depar
  • Zuchner S; From the Institute of Neuroscience (R.G.W., B.A.S.H.) and John Walton Muscular Dystrophy Research Centre, Institute of Genetic Medicine (B.B., R.M.L., R.H., H.L.), Newcastle University, Newcastle, UK; Department of Neurology (D.N.H., E.L.L., J.E.S.), University of Rochester Medical Center, NY; Depar
  • Horvath R; From the Institute of Neuroscience (R.G.W., B.A.S.H.) and John Walton Muscular Dystrophy Research Centre, Institute of Genetic Medicine (B.B., R.M.L., R.H., H.L.), Newcastle University, Newcastle, UK; Department of Neurology (D.N.H., E.L.L., J.E.S.), University of Rochester Medical Center, NY; Depar
  • Lochmüller H; From the Institute of Neuroscience (R.G.W., B.A.S.H.) and John Walton Muscular Dystrophy Research Centre, Institute of Genetic Medicine (B.B., R.M.L., R.H., H.L.), Newcastle University, Newcastle, UK; Department of Neurology (D.N.H., E.L.L., J.E.S.), University of Rochester Medical Center, NY; Depar
Neurology ; 85(22): 1964-71, 2015 Dec 01.
Article en En | MEDLINE | ID: mdl-26519543
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Transmisión Sináptica / Síndromes Miasténicos Congénitos / Sinaptotagmina II / Mutación Límite: Adolescent / Adult / Aged / Child / Female / Humans / Male / Middle aged Idioma: En Revista: Neurology Año: 2015 Tipo del documento: Article
Texto completo
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Transmisión Sináptica / Síndromes Miasténicos Congénitos / Sinaptotagmina II / Mutación Límite: Adolescent / Adult / Aged / Child / Female / Humans / Male / Middle aged Idioma: En Revista: Neurology Año: 2015 Tipo del documento: Article