Associated Papers
A novel homozygous SQSTM1 frameshift variant in a Filipino adolescent with childhood-onset ataxia and gaze palsy.
Dichoso LP et al.
Parkinsonism & Related Disorders, 2026
A Phenotypic Paradigm for Cerebral Palsy Genetics.
Arterbery AS et al.
Medrxiv : the Preprint Server for Health Sciences, 2026
41646824 (PubMed )
Supplement: media-2.xlsx › Table_S6
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
Novel SQSTM1 (c.838G>T) Mutation Identified in Two Unrelated Cases of Cerebellar Ataxia and Gaze Palsy.
Hosseini Moshkenani N et al.
Advanced Biomedical Research, 2025
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
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