Associated Papers
Clinical Profile and Genetic Composition of Patients With Juvenile Parkinsonism From a Single Tertiary Care Center in India.
Farsana MK et al.
Journal of Movement Disorders, 2026
Population-Specific Differences in Pathogenic Variants of Genes Associated with Monogenic Parkinson's Disease.
Flores-Ocampo V et al.
Genes, 2025
Co-occurrence of PRKN and SYNJ1 variants in Early-Onset Parkinson's disease.
Cotrin JC et al.
Metabolic Brain Disease, 2024
Parkinsonism Sac domain mutation in Synaptojanin-1 affects ciliary properties in iPSC-derived dopaminergic neurons.
Mohd Rafiq N et al.
Proceedings of the National Academy of Sciences of the United States of America, 2024
Parkinsonism Sac domain mutation in Synaptojanin-1 affects ciliary properties in iPSC-derived dopaminergic neurons.
Rafiq NM et al.
Biorxiv : the Preprint Server for Biology, 2023
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 Novel SYNJ1 Mutation in a Tunisian Family with Juvenile Parkinson's Disease Associated with Epilepsy.
Ben Romdhan S et al.
Journal of Molecular Neuroscience : Mn, 2018
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
PARK20 caused by SYNJ1 homozygous Arg258Gln mutation in a new Italian family.
Olgiati S et al.
Neurogenetics, 2014
Synaptojanin 1 mutation in Parkinson's disease brings further insight into the neuropathological mechanisms.
Drouet V et al.
Biomed Research International, 2014
The Sac1 domain of SYNJ1 identified mutated in a family with early-onset progressive Parkinsonism with generalized seizures.
Krebs CE et al.
Human Mutation, 2013
Mutation in the SYNJ1 gene associated with autosomal recessive, early-onset Parkinsonism.
Quadri M et al.
Human Mutation, 2013