Large-scale screening in sporadic amyotrophic lateral sclerosis identifies genetic modifiers in C9orf72 repeat carriers.

Dekker, Annelot M; Seelen, Meinie; van Doormaal, Perry T C; van Rheenen, Wouter; Bothof, Reinoud J P; van Riessen, Tim; Brands, William J; van der Kooi, Anneke J; de Visser, Marianne; Voermans, Nicol C; Pasterkamp, R Jeroen; Veldink, Jan H; van den Berg, Leonard H; van Es, Michael A

Dekker, Annelot M; Seelen, Meinie; van Doormaal, Perry T C; van Rheenen, Wouter; Bothof, Reinoud J P; van Riessen, Tim; Brands, William J; van der Kooi, Anneke J; de Visser, Marianne; Voermans, Nicol C; Pasterkamp, R Jeroen; Veldink, Jan H; van den Berg, Leonard H; van Es, Michael A.

Afiliação

Dekker AM; Department of Neurology, Brain Center Rudolf Magnus, University Medical Center Utrecht, Utrecht, the Netherlands.
Seelen M; Department of Neurology, Brain Center Rudolf Magnus, University Medical Center Utrecht, Utrecht, the Netherlands.
van Doormaal PT; Department of Neurology, Brain Center Rudolf Magnus, University Medical Center Utrecht, Utrecht, the Netherlands.
van Rheenen W; Department of Neurology, Brain Center Rudolf Magnus, University Medical Center Utrecht, Utrecht, the Netherlands.
Bothof RJ; Department of Neurology, Brain Center Rudolf Magnus, University Medical Center Utrecht, Utrecht, the Netherlands.
van Riessen T; Department of Neurology, Brain Center Rudolf Magnus, University Medical Center Utrecht, Utrecht, the Netherlands.
Brands WJ; Department of Neurology, Brain Center Rudolf Magnus, University Medical Center Utrecht, Utrecht, the Netherlands.
van der Kooi AJ; Department of Neurology, Academic Medical Center, University of Amsterdam, Amsterdam, the Netherlands.
de Visser M; Department of Neurology, Academic Medical Center, University of Amsterdam, Amsterdam, the Netherlands.
Voermans NC; Department of Neurology, Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Center, Nijmegen, the Netherlands.
Pasterkamp RJ; Department of Translational Neuroscience, Brain Center Rudolf Magnus, University Medical Center Utrecht, Utrecht, the Netherlands.
Veldink JH; Department of Neurology, Brain Center Rudolf Magnus, University Medical Center Utrecht, Utrecht, the Netherlands.
van den Berg LH; Department of Neurology, Brain Center Rudolf Magnus, University Medical Center Utrecht, Utrecht, the Netherlands.
van Es MA; Department of Neurology, Brain Center Rudolf Magnus, University Medical Center Utrecht, Utrecht, the Netherlands. Electronic address: m.a.vanes@umcutrecht.nl.

Neurobiol Aging ; 39: 220.e9-15, 2016 Mar.

Article em En | MEDLINE | ID: mdl-26777436

Assuntos

Esclerose Lateral Amiotrófica/genética; Testes Genéticos; Heterozigoto; Proteínas de Membrana/genética; Proteínas/genética; Sequências Repetitivas de Ácido Nucleico/genética; Idoso; Proteína C9orf72; Feminino; Predisposição Genética para Doença/genética; Variação Genética; Humanos; Masculino; Pessoa de Meia-Idade; Fatores de Risco

Palavras-chave

Amyotrophic lateral sclerosis; C9orf72; Genetic modifiers; NIPA1; Repeat expansions

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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Sequências Repetitivas de Ácido Nucleico / Proteínas / Testes Genéticos / Heterozigoto / Esclerose Lateral Amiotrófica / Proteínas de Membrana Tipo de estudo: Diagnostic_studies / Etiology_studies / Prognostic_studies / Risk_factors_studies / Screening_studies Limite: Aged / Female / Humans / Male / Middle aged Idioma: En Ano de publicação: 2016 Tipo de documento: Article

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