Associated Papers
Spinocerebellar ataxia type 11 (SCA11): TTBK2 variants, functions and associated disease mechanisms.
Felício D et al.
Cerebellum (london, England), 2024
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
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
Past, present and future therapeutics for cerebellar ataxias.
Marmolino D et al.
Current Neuropharmacology, 2010
Missense exchanges in the TTBK2 gene mutated in SCA11.
Edener U et al.
Journal of Neurology, 2009
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