FGF14 GAA Intronic Expansion in Unsolved Adult‐Onset Ataxia in the Care4Rare Canada Consortium

ABSTRACT Background and Objectives Spinocerebellar ataxias (SCA) represent a clinically and genetically heterogeneous group of progressive neurodegenerative diseases with prominent cerebellar atrophy. Recently, a novel pathogenic repeat expansion in intron 1 of FGF14 was identified, causing adult‐on...

Fuld beskrivelse

Bibliografiske detaljer

Principais autores:	Alexanne Cuillerier, Giulia F. Del Gobbo, Layla Mackay, Erika Wall, Madeline Couse, Laura M. McDonell, Mireille Cloutier, Matt C. Danzi, Jodi Warman‐Chardon, Pierre R. Bourque, Oksana Suchowersky, Alan Mears, Luke Seldenthuis, Wendy Mears, Laura Larrigan, Alexandre White‐Brown, Gerald Pfeffer, Dennis E. Bulman, David Dyment, Care4Rare Canada Consortium, Kym M. Boycott
Format:	Artigo
Sprog:	Inglês
Udgivet:	Wiley 2025-06-01
Serier:	Annals of Clinical and Translational Neurology
Online adgang:	https://doi.org/10.1002/acn3.70016
Tags:	Tilføj Tag Ingen Tags, Vær først til at tagge denne postø!