The genetic landscape and phenotypic spectrum of GAA-FGF14 ataxia in China: a large cohort studyResearch in context

Summary: Background: An intronic GAA repeat expansion in FGF14 was recently identified as a cause of GAA-FGF14 ataxia. We aimed to characterise the frequency and phenotypic profile of GAA-FGF14 ataxia in a large Chinese ataxia cohort. Methods: A total of 1216 patients that included 399 typical late...

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Bibliographic Details
Main Authors:	Riwei Ouyang, Linlin Wan, David Pellerin, Zhe Long, Jian Hu, Qian Jiang, Chunrong Wang, Linliu Peng, Huirong Peng, Lang He, Rong Qiu, Junling Wang, Jifeng Guo, Lu Shen, Bernard Brais, Matt C. Danzi, Stephan Zuchner, Beisha Tang, Zhao Chen, Hong Jiang
Format:	Article
Language:	English
Published:	Elsevier 2024-04-01
Series:	EBioMedicine
Subjects:	GAA-FGF14 ataxia GAA-impure expansion Co-occurrence Long-read sequencing Biallelic (GAA)n allele
Online Access:	http://www.sciencedirect.com/science/article/pii/S2352396424001129

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http://www.sciencedirect.com/science/article/pii/S2352396424001129

The genetic landscape and phenotypic spectrum of GAA-FGF14 ataxia in China: a large cohort studyResearch in context

Internet

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