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
Targeted Long-Read Sequencing as a Single Assay Improves the Diagnosis of Spastic-Ataxia Disorders.
Rudaks LI et al.
Annals of Clinical and Translational Neurology, 2025
A New Case Series Suggests That SCA48 (ATX/STUB1) Is Primarily a Monogenic Disorder.
van Prooije TH et al.
Movement Disorders : Official Journal of the Movement Disorder Society, 2024
A Chinese Family with Digenic TBP/STUB1 Spinocerebellar Ataxia.
Liu L et al.
Cerebellum (london, England), 2024
Genetic spectrum and clinical features in a cohort of Chinese patients with autosomal recessive cerebellar ataxias.
Cheng HL et al.
Translational Neurodegeneration, 2021
C-terminus of Hsp70 Interacting Protein (CHIP) and Neurodegeneration: Lessons from the Bench and Bedside.
Mylvaganam S et al.
Current Neuropharmacology, 2021
Clinical, neuropathological, and genetic characterization of STUB1 variants in cerebellar ataxias: a frequent cause of predominant cognitive impairment.
Roux T et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020
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