Associated Papers
A novel RBBP8(p.E281*) germline mutation is a predisposing mutation in familial hereditary cancer syndrome.
Yan J et al.
Journal of Molecular Medicine (berlin, Germany), 2023
Feasibility of Follow-Up Studies and Reclassification in Spinocerebellar Ataxia Gene Variants of Unknown Significance.
Ghorbani F et al.
Frontiers in Genetics, 2022
TGM6 might not be a specific causative gene for spinocerebellar ataxia resulting from genetic analysis and functional study.
Cheng HL et al.
Gene, 2021
Case Report: A Novel Heterozygous Mutation of CD2AP in a Chinese Family With Proteinuria Leads to Focal Segmental Glomerulosclerosis.
Liu YX et al.
Frontiers in Pediatrics, 2021
A case report of late-onset cerebellar ataxia associated with a rare p.R342W TGM6 (SCA35) mutation.
Manini A et al.
Bmc Neurology, 2020
TGM6 variants in Parkinson's disease: clinical findings and functional evidence.
Chen K et al.
Journal of Integrative Neuroscience, 2020
Mutations in TGM6 induce the unfolded protein response in SCA35.
Tripathy D et al.
Human Molecular Genetics, 2017
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