The genetic landscape and phenotypic spectrum of GAA-FGF14 ataxia in China: a large cohort study-Reference-Cited by-同舟云学术

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

Published:2024-04 Issue: Volume:102 Page:105077
ISSN:2352-3964
Container-title:eBioMedicine
language:en
Short-container-title:eBioMedicine

Author:

Ouyang Riwei,Wan Linlin,Pellerin David,Long Zhe,Hu Jian,Jiang Qian,Wang Chunrong,Peng Linliu,Peng Huirong,He Lang,Qiu Rong,Wang Junling,Guo Jifeng,Shen Lu,Brais Bernard,Danzi Matt C.,Zuchner Stephan,Tang Beisha,Chen Zhao^ORCID,Jiang Hong^ORCID

Funder

Ministry of Science and Technology of the People's Republic of China

Hunan Provincial Natural Science Foundation

Xiangya Hospital Central South University

Key Project of Research and Development Plan of Hunan Province

Hunan Provincial Science and Technology Department

Central South University

National Natural Science Foundation of China

Publisher

Elsevier BV

Reference31 articles.

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4. Functional genomics provide key insights to improve the diagnostic yield of hereditary ataxia;Chen;Brain,2023

5. Deep intronic FGF14 GAA repeat expansion in late-onset cerebellar ataxia;Pellerin;N Engl J Med,2023

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