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
Are rare heterozygous SYNJ1 variants associated with Parkinson's disease?
Senkevich K et al.
Medrxiv : the Preprint Server for Health Sciences, 2024
38853950 (PubMed )
Supplement: media-1.xlsx › S_table_4.SYNJ1_AMP_PD_and_UKBB
Co-occurrence of PRKN and SYNJ1 variants in Early-Onset Parkinson's disease.
Cotrin JC et al.
Metabolic Brain Disease, 2024
A novel SYNJ1 homozygous variant causing developmental and epileptic encephalopathy in an Afro-Caribbean individual.
Maj M et al.
Molecular Genetics & Genomic Medicine, 2023
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
A structure of substrate-bound Synaptojanin1 provides new insights in its mechanism and the effect of disease mutations.
Paesmans J et al.
Elife, 2020
SYNJ1 gene associated with neonatal onset of neurodegenerative disorder and intractable seizure.
Al Zaabi N et al.
Molecular Genetics & Genomic Medicine, 2018
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