Reply: Biallelic POLR3A variants confirmed as a frequent cause of hereditary ataxia and spastic paraparesis.

Minnerop, Martina; Kurzwelly, Delia; Wagner, Holger; Schüle, Rebecca; Ramirez, Alfredo

Minnerop, Martina; Kurzwelly, Delia; Wagner, Holger; Schüle, Rebecca; Ramirez, Alfredo.

Afiliação

Minnerop M; Institute of Neuroscience and Medicine (INM-1), Research Centre Juelich, Jülich, Germany.
Kurzwelly D; Center for Movement Disorders and Neuromodulation, Department of Neurology and Institute of Clinical Neuroscience and Medical Psychology, Medical Faculty, Heinrich-Heine University, Düsseldorf, Germany.
Wagner H; Department of Neurology, University of Bonn, Bonn, Germany.
Schüle R; Division for Neurogenetics and Molecular Psychiatry, Department of Psychiatry and Psychotherapy, Medical Faculty, University of Cologne, Cologne, Germany.
Ramirez A; Center for Neurology and Hertie Institute for Clinical Brain Research, University of Tübingen, Tübingen, Germany.

Brain ; 142(4): e13, 2019 04 01.

Article em En | MEDLINE | ID: mdl-30847463

Assuntos

Atrofia Óptica; Paraparesia Espástica; Ataxias Espinocerebelares; Humanos; Deficiência Intelectual; Espasticidade Muscular; Mutação; RNA Polimerase III/genética

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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Atrofia Óptica / Ataxias Espinocerebelares / Paraparesia Espástica Limite: Humans Idioma: En Ano de publicação: 2019 Tipo de documento: Article

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