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
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