Associated Papers
Population-Specific Differences in Pathogenic Variants of Genes Associated with Monogenic Parkinson's Disease.
Flores-Ocampo V et al.
Genes, 2025
40282414 (PubMed )
Supplement: genes-16-00454-s001.zip › Supplementary_Tables.xlsx › ST2
Mini-review: Synaptojanin 1 and its implications in membrane trafficking.
Choudhry H et al.
Neuroscience Letters, 2021
Clinical Variability of SYNJ1-Associated Early-Onset Parkinsonism.
Lesage S et al.
Frontiers in Neurology, 2021
SYNJ1 gene associated with neonatal onset of neurodegenerative disorder and intractable seizure.
Al Zaabi N et al.
Molecular Genetics & Genomic Medicine, 2018
Identification of a novel homozygous mutation Arg459Pro in SYNJ1 gene of an Indian family with autosomal recessive juvenile Parkinsonism.
Kirola L et al.
Parkinsonism & Related Disorders, 2016
Whole-exome sequencing broadens the phenotypic spectrum of rare pediatric epilepsy: a retrospective study.
Dyment DA et al.
Clinical Genetics, 2015
Homozygous nonsense mutation in SYNJ1 associated with intractable epilepsy and tau pathology.
Dyment DA et al.
Neurobiology of Aging, 2015
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