Varaico: Literature-Extracted Genetic Variants

Gene:SNCA
Variant:p.G41Splc
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SNCA

NM_000345.4:p.G41Splc

Associated Papers

iSCORE-PD: an isogenic stem cell collection to research Parkinson's Disease.

Busquets O et al.

Biorxiv : the Preprint Server for Biology, 2025

38405931 (PubMed )
Supplement: NIHPP2024.02.12.579917v2-supplement-10.pdf

Alpha-Synuclein mRNA Level Found Dependent on L444P Variant in Carriers and Gaucher Disease Patients on Enzyme Replacement Therapy.

Dubiela P et al.

Biomolecules, 2023

Genetic Architecture of Parkinson's Disease.

Shadrina MI et al.

Biochemistry. Biokhimiia, 2023

Aberrant proteins expressed in skin fibroblasts of Parkinson's disease patients carrying heterozygous variants of glucocerebrosidase and parkin genes.

Sawangareetrakul P et al.

Biomedical Reports, 2021

A characterization of Gaucher iPS-derived astrocytes: Potential implications for Parkinson's disease.

Aflaki E et al.

Neurobiology of Disease, 2020

Integrated Genetic Analysis of Racial Differences of Common GBA Variants in Parkinson's Disease: A Meta-Analysis.

Zhang Y et al.

Frontiers in Molecular Neuroscience, 2018

Neuropathology of genetic synucleinopathies with parkinsonism: Review of the literature.

Schneider SA et al.

Movement Disorders : Official Journal of the Movement Disorder Society, 2017

Clinical profiles associated with LRRK2 and GBA mutations in Brazilians with Parkinson's disease.

da Silva CP et al.

Journal of the Neurological Sciences, 2017

Advances in GBA-associated Parkinson's disease--Pathology, presentation and therapies.

Barkhuizen M et al.

Neurochemistry International, 2016

Dopaminergic neuronal imaging in genetic Parkinson's disease: insights into pathogenesis.

McNeill A et al.

Plos One, 2013

The link between the GBA gene and parkinsonism.

Sidransky E et al.

The Lancet. Neurology, 2012

The neuropathology of genetic Parkinson's disease.

Poulopoulos M et al.

Movement Disorders : Official Journal of the Movement Disorder Society, 2012

Mutational analysis of GIGYF2, ATP13A2 and GBA genes in Brazilian patients with early-onset Parkinson's disease.

Dos Santos AV et al.

Neuroscience Letters, 2010

Mutations in the glucocerebrosidase gene and Parkinson's disease in Ashkenazi Jews.

Aharon-Peretz J et al.

The New England Journal of Medicine, 2004

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."