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Author

Chunyu Li

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Open access Sep 2026

Cross-Ethnic Replication of Intersectin-1 as a Parkinson's Disease Susceptibility Gene in a Large Chinese Cohort.

BACKGROUND Rare loss-of-function (LoF) variants in Intersectin-1 (ITSN1) have recently been identified as strong genetic risk factors for Parkinson's disease (PD) in individuals of European ancestry. OBJECTIVE The aim was to determine whether this association extends to other populations. METHODS We analyzed whole-...

Chun-Yu Li, R. Ou, Q. Wei et al. · 0 citations
Case report Open access Aug 2026

Amyotrophic lateral sclerosis -plus patient with an intermediate-length CACNA1A allele: a Case Report

Amyotrophic lateral sclerosis (ALS), the most common type of motor neuron disease, primarily manifests as progressive weakness, atrophy, fasciculations, bulbar palsy, and pyramidal tract symptoms. Accumulating evidence indicates that the pathological spectrum of ALS extends beyond the pyramidal and neuromuscular motor...

Xin-Yao Gao, Ting-Ting Wang, Si-Hui Chen et al. · 0 citations
Jul 2026

Detecting Rare Variants in PCDHGB1 in Dystonia.

This study supplemented the evidence on the role of PCDHGB1 in dystonia and expanded the genotypic and phenotypic spectrum of PCDHGB1.

Junyu Lin, Chunyu Li, Dejiang Pang et al. · 0 citations

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