Associated Papers
Evaluating genome sequencing strategies: trio, singleton, and standard testing in rare disease diagnosis.
Kaschta D et al.
Genome Medicine, 2025
TBP Repeat Expansion Analysis in Patients Carrying Heterozygous STUB1 Variants.
De Winter J et al.
Movement Disorders : Official Journal of the Movement Disorder Society, 2025
STUB1 Mutations as Possible Genetic Modifiers in Spinocerebellar Ataxia Type 8.
Baviera-Muñoz R et al.
Movement Disorders : Official Journal of the Movement Disorder Society, 2024
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
Application of a custom NGS gene panel revealed a high diagnostic utility for molecular testing of hereditary ataxias.
Radziwonik W et al.
Journal of Applied Genetics, 2022
The Complex Genetic Landscape of Hereditary Ataxias in Turkey and Implications in Clinical Practice.
Vural A et al.
Movement Disorders : Official Journal of the Movement Disorder Society, 2021
Correspondence on "Clinical, neuropathological, and genetic characterization of STUB1 variants in cerebellar ataxias: a frequent cause of predominant cognitive impairment" by Roux et al.
Park J et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2021
Expanding the clinical spectrum of STIP1 homology and U-box containing protein 1-associated ataxia.
Ravel JM et al.
Journal of Neurology, 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