Associated Papers
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
Unraveling the genetic landscape of undiagnosed cerebellar ataxia in Brazilian patients.
Novis LE et al.
Parkinsonism & Related Disorders, 2024
Spinocerebellar ataxia type 17-digenic TBP/STUB1 disease: neuropathologic features of an autopsied patient.
Saito R et al.
Acta Neuropathologica Communications, 2022
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
CHIP mutations affect the heat shock response differently in human fibroblasts and iPSC-derived neurons.
Schuster S et al.
Disease Models & Mechanisms, 2020
Spinocerebellar ataxia type 48: last but not least.
De Michele G et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2020
The complex phenotype of spinocerebellar ataxia type 48 in eight unrelated Italian families.
Lieto M et al.
European Journal of Neurology, 2020
A Comprehensive Atlas of E3 Ubiquitin Ligase Mutations in Neurological Disorders.
George AJ et al.
Frontiers in Genetics, 2018
29491882 (PubMed )
Supplement: Table2.xlsx › Sheet1
STUB1/CHIP mutations cause Gordon Holmes syndrome as part of a widespread multisystemic neurodegeneration: evidence from four novel mutations.
Hayer SN et al.
Orphanet Journal of Rare Diseases, 2017
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