Short-read genome sequencing allows 'en route' diagnosis of patients with atypical Friedreich ataxia.

Fleszar, Zofia; Dufke, Claudia; Sturm, Marc; Schüle, Rebecca; Schöls, Ludger; Haack, Tobias B; Synofzik, Matthis

Fleszar, Zofia; Dufke, Claudia; Sturm, Marc; Schüle, Rebecca; Schöls, Ludger; Haack, Tobias B; Synofzik, Matthis.

Afiliación

Fleszar Z; Department of Neurodegenerative Diseases and Hertie Institute for Clinical Brain Research, University of Tübingen, Tübingen, Germany.
Dufke C; German Centre for Neurodegenerative Diseases (DZNE), Tübingen, Germany.
Sturm M; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.
Schüle R; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.
Schöls L; Department of Neurodegenerative Diseases and Hertie Institute for Clinical Brain Research, University of Tübingen, Tübingen, Germany.
Haack TB; German Centre for Neurodegenerative Diseases (DZNE), Tübingen, Germany.
Synofzik M; Division of Neurodegenerative Diseases, Department of Neurology, Heidelberg University Hospital, Heidelberg, Germany.

J Neurol ; 270(8): 4112-4117, 2023 Aug.

Article en En | MEDLINE | ID: mdl-37119371

Asunto(s)

Ataxia de Friedreich; Humanos; Ataxia de Friedreich/diagnóstico; Ataxia de Friedreich/genética

Texto completo

Añadir a Mi BVS

Imprimir

XML

PubMed Links

Buscar en Google

Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Ataxia de Friedreich Tipo de estudio: Diagnostic_studies Límite: Humans Idioma: En Revista: J Neurol Año: 2023 Tipo del documento: Article País de afiliación: Alemania Pais de publicación: Alemania

Texto completo

Añadir a Mi BVS

Imprimir

XML

PubMed Links

Buscar en Google