Associated Papers
A prospective trial comparing programmable targeted long-read sequencing and short-read genome sequencing for genetic diagnosis of cerebellar ataxia.
Rafehi H et al.
Genome Research, 2025
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
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
A Targeted Gene Panel That Covers Coding, Non-coding and Short Tandem Repeat Regions Improves the Diagnosis of Patients With Neurodegenerative Diseases.
Yu AC et al.
Frontiers in Neuroscience, 2019
A panel study on patients with dominant cerebellar ataxia highlights the frequency of channelopathies.
Coutelier M et al.
Brain : a Journal of Neurology, 2017
Spinocerebellar ataxia type 11 (SCA11) is an uncommon cause of dominant ataxia among French and German kindreds.
Bauer P et al.
Journal of Neurology, Neurosurgery, and Psychiatry, 2010
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