Associated Papers
A Novel TTBK2 Mutation in a Chinese Pedigree with Spinocerebellar Ataxia 11.
Lu YQ et al.
Cerebellum (london, England), 2024
Spinocerebellar ataxia type 11 (SCA11): TTBK2 variants, functions and associated disease mechanisms.
Felício D et al.
Cerebellum (london, England), 2024
TTBK2 T3290C mutation in spinocerebellar ataxia 11 interferes with ciliogenesis.
Luo R et al.
Translational Neuroscience, 2024
Spinocerebellar ataxia type 11 (SCA11): An update.
Gong Z et al.
The European Journal of Neuroscience, 2023
TTBK2 mutations associated with spinocerebellar ataxia type 11 disrupt peroxisome dynamics and ciliary localization of SHH signaling proteins.
Muñoz-Estrada J et al.
Biorxiv : the Preprint Server for Biology, 2023
Next-Generation Sequencing Technologies and Neurogenetic Diseases.
Sun H et al.
Life (basel, Switzerland), 2021
First finding of familial spinal cerebellar Ataxia11 in China: clinical, imaging and genetic features.
Deng Y et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2020
Screening Gene Mutations in Chinese Patients With Benign Essential Blepharospasm.
Dong H et al.
Frontiers in Neurology, 2019
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