Associated Papers
Heterozygous p62/SQSTM1 mutation and right temporal variant of frontotemporal dementia: Α case report.
Koumasopoulos E et al.
Neurocase, 2025
A Novel Synonymous Variant in SQSTM1 Causes Neurodegeneration With Ataxia, Dystonia, and Gaze Palsy Revealed by Urine-Derived Cells-Based Functional Analysis.
Masuko S et al.
Molecular Genetics & Genomic Medicine, 2024
39587727 (PubMed )
Supplement: MGG3-12-e70044-s001.xlsx › Table
SQSTM1 gene as a potential genetic modifier of CADASIL phenotype.
Almeida MR et al.
Journal of Neurology, 2021
SQSTM1 mutation: Description of the first Tunisian case and literature review.
Akkari M et al.
Molecular Genetics & Genomic Medicine, 2020
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