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Yi-Chun Lu
Researcher at Taipei Veterans General Hospital
Publications - 12
Citations - 627
Yi-Chun Lu is an academic researcher from Taipei Veterans General Hospital. The author has contributed to research in topics: Spinocerebellar ataxia & Mutation. The author has an hindex of 10, co-authored 11 publications receiving 580 citations.
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Journal ArticleDOI
Mutations in KCND3 cause spinocerebellar ataxia type 22
Yi-Chung Lee,Alexandra Durr,Karen Majczenko,Yen Hua Huang,Yu Chao Liu,Cheng Chang Lien,Pei-Chien Tsai,Yaeko Ichikawa,Jun Goto,Marie Lorraine Monin,Jun Li,Ming Yi Chung,Emeline Mundwiller,Vikram G. Shakkottai,Tze Tze Liu,Christelle Tesson,Yi-Chun Lu,Alexis Brice,Shoji Tsuji,Margit Burmeister,Giovanni Stevanin,Bing-Wen Soong +21 more
TL;DR: In this article, the causative gene in SCA22, an autosomal dominant cerebellar ataxia mapped to chromosome 1p21-q23, was identified.
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A hexanucleotide repeat expansion in C9ORF72 causes familial and sporadic ALS in Taiwan
Ching-Paio Tsai,Ching-Paio Tsai,Bing-Wen Soong,Bing-Wen Soong,Pang-Hsien Tu,Kon-Ping Lin,Kon-Ping Lin,Jong Ling Fuh,Jong Ling Fuh,Pei-Chien Tsai,Pei-Chien Tsai,Yi-Chun Lu,I-Hui Lee,I-Hui Lee,Yi-Chung Lee,Yi-Chung Lee +15 more
TL;DR: This study clearly demonstrates the existence and importance of the C9ORF72 hexanucleotide repeat expansion in a Taiwanese ALS cohort of Chinese origin, and supports the global presence of the GGGGCC hexan nucleotide repeat Expansion in ALS.
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A novel autosomal dominant spinocerebellar ataxia (SCA22) linked to chromosome 1p21‐q23
TL;DR: A four-generation Chinese pedigree segregating an autosomal dominant phenotype for cerebellar ataxia is ascertained and clinically characterized and is characterized by a slowly progressive, pure cerebellum without involvement of the brainstem.
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Frequency analysis of autosomal dominant cerebellar ataxias in Taiwanese patients and clinical and molecular characterization of spinocerebellar ataxia type 6.
TL;DR: Although SCA6 has, so far, not been reported in mainland Chinese, it is found that a geographic cluster of families with SCA 6 on Taiwan is found, suggesting a founder effect in the Taiwanese patients withSCA6.
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Exome sequencing identifies GNB4 mutations as a cause of dominant intermediate Charcot-Marie-Tooth disease.
Bing-Wen Soong,Yen Hua Huang,Pei-Chien Tsai,Chien Chang Huang,Hung Chuan Pan,Yi-Chun Lu,Hsin Ju Chien,Tze Tze Liu,Ming Hong Chang,Kon Ping Lin,Kon Ping Lin,Pang-Hsien Tu,Lung Sen Kao,Yi-Chung Lee,Yi-Chung Lee +14 more
TL;DR: GNB4 mutations are identified as a cause ofarcot-Marie-Tooth disease and the importance of Gβ4-related GPCR signaling in peripheral-nerve function in humans is highlighted.