Natural History and Phenotypic Spectrum of GAA-FGF14 Sporadic Late-Onset Cerebellar Ataxia (SCA27B).

Thomas Wirth,Guillemette Clément,Clarisse Delvallée,Céline Bonnet,Thomas Bogdan,Andra Iosif,Audrey Schalk,Jean-Baptiste Chanson,David Pellerin,Bernard Brais, Virginie Roth, Marion Wandzel,Marie-Céline Fleury,Amélie Piton,Nadège Calmels,Izzie Jacques Namer,Stéphane Kremer,Christine Tranchant,Mathilde Renaud,Mathieu Anheim

Movement disorders : official journal of the Movement Disorder Society（2023）

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摘要

FGF14 expansion is a major cause of SLOCA. Our natural history data will inform future FGF14 clinical trials. © 2023 The Authors. Movement Disorders published by Wiley Periodicals LLC on behalf of International Parkinson and Movement Disorder Society.

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cerebellar ataxia, genetics, FGF14, natural history, phenotyping, SCA27B

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