Associated Papers
Heterozygous p62/SQSTM1 mutation and right temporal variant of frontotemporal dementia: Α case report.
Koumasopoulos E et al.
Neurocase, 2025
A systematic review and functional in-silico analysis of genes and variants associated with amyotrophic lateral sclerosis.
Arreola-Aldape CA et al.
Frontiers in Neuroscience, 2025
40589786 (PubMed )
Supplement: Table_4.xlsx › ClinVar_filtered_variants
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
Neurodegeneration, Ataxia, Dystonia, and Gaze Palsy (NADGP) Syndrome with Nocturnal Paroxysmal Head Tremor.
Salari M et al.
Movement Disorders Clinical Practice, 2023
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
Beyond dystonia and ataxia: Expanding the phenotype of SQSTM1 mutations.
Zúñiga-Ramírez C et al.
Parkinsonism & Related Disorders, 2019
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