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
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
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