Associated Papers
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
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
Homozygous sequestosome 1 (SQSTM1) mutation: a rare cause for childhood-onset progressive cerebellar ataxia with vertical gaze palsy.
Vedartham V et al.
Ophthalmic Genetics, 2019
Select a paper to view details