Reduced Age-Dependent Penetrance of a Large FGF14 GAA Repeat Expansion in a 74-Year-Old Woman from a German Family with SCA27B.

Pellerin, David; Seemann, Jens; Traschütz, Andreas; Brais, Bernard; Ilg, Winfried; Synofzik, Matthis

Pellerin, David; Seemann, Jens; Traschütz, Andreas; Brais, Bernard; Ilg, Winfried; Synofzik, Matthis.

Afiliação

Pellerin D; Department of Neurology and Neurosurgery, Montreal Neurological Hospital and Institute, McGill University, Montreal, Quebec, Canada.
Seemann J; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology and The National Hospital for Neurology and Neurosurgery, University College London, London, UK.
Traschütz A; Section Computational Sensomotrics, Hertie Institute for Clinical Brain Research, Tübingen, Germany.
Brais B; Centre for Integrative Neuroscience (CIN), Tübingen, Germany.
Ilg W; Division Translational Genomics of Neurodegenerative Diseases, Hertie Institute for Clinical Brain Research and Center of Neurology, University of Tübingen, Tübingen, Germany.
Synofzik M; German Center for Neurodegenerative Diseases (DZNE), Tübingen, Germany.

Mov Disord ; 2024 Jul 01.

Article em En | MEDLINE | ID: mdl-38949032

Palavras-chave

GAAFGF14 ataxia; SCA27B; penetrance; repeat expansion disorder

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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Idioma: En Revista: Mov Disord Assunto da revista: NEUROLOGIA Ano de publicação: 2024 Tipo de documento: Article País de afiliação: Canadá

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