Associated Papers
Novel Biallelic SQSTM1 Mutation Causing a Subacute-Onset Complex Movement Disorder with Oculomotor Abnormalities.
de Almeida Marcelino AL et al.
Movement Disorders Clinical Practice, 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
A Novel Variant in SQSTM1 Gene Causing Neurodegeneration with Ataxia, Dystonia, and Gaze Palsy in a Peruvian Family.
Chacaltana-Vinas C et al.
Movement Disorders Clinical Practice, 2024
First report of novel mutation (c.790del) on SQSTM1 gene on a family with childhood onset of progressive cerebellar ataxia with vertical gaze palsy.
Jalali H et al.
Clinical Case Reports, 2022
SQSTM1 mutation: Description of the first Tunisian case and literature review.
Akkari M et al.
Molecular Genetics & Genomic Medicine, 2020
Identification of a Novel Hemizygous SQSTM1 Nonsense Mutation in Atypical Behavioral Variant Frontotemporal Dementia.
Sun L et al.
Frontiers in Aging Neuroscience, 2018
Absence of the Autophagy Adaptor SQSTM1/p62 Causes Childhood-Onset Neurodegeneration with Ataxia, Dystonia, and Gaze Palsy.
Haack TB et al.
American Journal of Human Genetics, 2016
Select a paper to view details