Varaico: Literature-Extracted Genetic Variants

Gene:VPS35
Variant:p.G51S
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VPS35

NM_018206.6:p.G51S

Associated Papers

An update on the monogenic causes of Parkinson's disease: Impact on patient stratification and personalised medicine.

Asmi S et al.

Ageing Research Reviews, 2026

Relevance of genetic testing in the gene-targeted trial era: the Rostock Parkinson's disease study.

Westenberger A et al.

Brain : a Journal of Neurology, 2024

39087914 (PubMed )
Supplement: awae188_supplementary_data.zip › awae188_Supplementary_Table_6.f..xlsx › Sheet1

Autosomal dominant Parkinson's disease caused by the recently identified LRRK2 N1437D mutation in a Chinese family: Clinical features, imaging findings, and functional impact.

Sun YM et al.

Parkinsonism & Related Disorders, 2023

Re-evaluation of Genetic Variants in Parkinson's Disease Using Targeted Panel and Next-Generation Sequencing.

Kablan A et al.

Twin Research and Human Genetics : the Official Journal of the International Society for Twin Studies, 2023

Genetic Evidence for Endolysosomal Dysfunction in Parkinson's Disease: A Critical Overview.

Yahya V et al.

International Journal of Molecular Sciences, 2023

Genetic landscape of Parkinson's disease and related diseases in Luxembourg.

Landoulsi Z et al.

Frontiers in Aging Neuroscience, 2023

Mutations in GBA, SNCA, and VPS35 are not associated with Alzheimer's disease in a Chinese population: a case-control study.

Wen YF et al.

Neural Regeneration Research, 2022

The Role of VPS35 in the Pathobiology of Parkinson's Disease.

Sassone J et al.

Cellular and Molecular Neurobiology, 2021

Community-based genetic study of Parkinson's disease in Estonia.

Muldmaa M et al.

Acta Neurologica Scandinavica, 2021

Mechanisms of VPS35-Mediated Neurodegeneration in Parkinson's Disease.

Sargent D et al.

International Review of Movement Disorders, 2021

Contributions of VPS35 Mutations to Parkinson's Disease.

Rahman AA et al.

Neuroscience, 2019

The functional roles of retromer in Parkinson's disease.

Cui Y et al.

Febs Letters, 2018

Genetics of Parkinson disease.

Domingo A et al.

Handbook of Clinical Neurology, 2018

VPS35, the Retromer Complex and Parkinson's Disease.

Williams ET et al.

Journal of Parkinson's Disease, 2017

Genetics in Parkinson disease: Mendelian versus non-Mendelian inheritance.

Hernandez DG et al.

Journal of Neurochemistry, 2016

Vacuolar Protein Sorting Genes in Parkinson's Disease: A Re-appraisal of Mutations Detection Rate and Neurobiology of Disease.

Gambardella S et al.

Frontiers in Neuroscience, 2016

A multi-centre clinico-genetic analysis of the VPS35 gene in Parkinson disease indicates reduced penetrance for disease-associated variants.

Sharma M et al.

Journal of Medical Genetics, 2012

A mutation in VPS35, encoding a subunit of the retromer complex, causes late-onset Parkinson disease.

Zimprich A et al.

American Journal of Human Genetics, 2011

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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."