Late-onset cerebellar ataxia in three European patients with repeat expansions in RFC1 and FGF14: a case series.

IF 4.8 2区医学 Q1 CLINICAL NEUROLOGY

Journal of Neurology Pub Date : 2025-07-10 DOI:10.1007/s00415-025-13234-6

Armand Hocquel, David Pellerin, Jean Loup Méreaux, Vincent Huin, Marios Hadjivassiliou, Guillemette Clément, Felipe Villa, Salomé Puisieux, Solène Frismand, Marion Wandzel, Virginie Roth, Anna Wissocq, Thomas Wirth, Matt C Danzi, Isabelle Quadrio, Stephan Zuchner, Laetitia Lambert, Fanny Mochel, Matthis Synofzik, Mathieu Anheim, Henry Houlden, Alexis Brice, Carine Pourié, Bernard Brais, Céline Bonnet, Alexandra Durr, Mathilde Renaud

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3例欧洲RFC1和FGF14重复扩张患者的晚发性小脑性共济失调：病例系列

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

Journal of Neurology 医学-临床神经学

CiteScore

10.00

自引率

5.00%

发文量

558

审稿时长

1 months

期刊介绍： The Journal of Neurology is an international peer-reviewed journal which provides a source for publishing original communications and reviews on clinical neurology covering the whole field. In addition, Letters to the Editors serve as a forum for clinical cases and the exchange of ideas which highlight important new findings. A section on Neurological progress serves to summarise the major findings in certain fields of neurology. Commentaries on new developments in clinical neuroscience, which may be commissioned or submitted, are published as editorials. Every neurologist interested in the current diagnosis and treatment of neurological disorders needs access to the information contained in this valuable journal.