Truncating mutations in FUS/TLS give rise to a more aggressive ALS-phenotype than missense mutations: a clinico-genetic study in Germany.

Waibel, S; Neumann, M; Rosenbohm, A; Birve, A; Volk, A E; Weishaupt, J H; Meyer, T; Müller, U; Andersen, P M; Ludolph, A C

Waibel, S; Neumann, M; Rosenbohm, A; Birve, A; Volk, A E; Weishaupt, J H; Meyer, T; Müller, U; Andersen, P M; Ludolph, A C.

Afiliação

Waibel S; Department of Neurology, University of Ulm, Ulm, Germany.
Neumann M; Institute of Neuropathology, University Hospital of Zurich, Zurich, Switzerland.
Rosenbohm A; Department of Neurology, University of Ulm, Ulm, Germany.
Birve A; Department of Clinical Neuroscience, Umeå University, Umeå, Sweden.
Volk AE; Institute of Human Genetics, University of Ulm, Ulm, Germany.
Weishaupt JH; Department of Neurology, University of Ulm, Ulm, Germany.
Meyer T; Department of Neurology, Humboldt University Berlin, Berlin, Germany.
Müller U; Department of Human Genetics, University of Giessen, Giessen, Germany.
Andersen PM; Department of Neurology, University of Ulm, Ulm, Germany.
Ludolph AC; Department of Clinical Neuroscience, Umeå University, Umeå, Sweden.

Eur J Neurol ; 20(3): 540-546, 2013 Mar.

Article em En | MEDLINE | ID: mdl-23217123

Assuntos

Esclerose Lateral Amiotrófica/genética; Proteína FUS de Ligação a RNA/genética; Adulto; Progressão da Doença; Feminino; Genótipo; Alemanha; Humanos; Masculino; Pessoa de Meia-Idade; Mutação; Linhagem; Fenótipo; Reação em Cadeia da Polimerase Via Transcriptase Reversa

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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Proteína FUS de Ligação a RNA / Esclerose Lateral Amiotrófica Tipo de estudo: Prognostic_studies / Risk_factors_studies Limite: Adult / Female / Humans / Male / Middle aged País/Região como assunto: Europa Idioma: En Revista: Eur J Neurol Ano de publicação: 2013 Tipo de documento: Article

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