Varaico: Literature-Extracted Genetic Variants

Gene:PINK1
Variant:p.R120W
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PINK1

NM_032409.3:p.R120W

Associated Papers

GBA1-Associated Parkinson's Disease Is a Distinct Entity.

Skrahin A et al.

International Journal of Molecular Sciences, 2024

Differential effects of Mendelian GDAP1 clinical variants on mitochondria-lysosome membrane contacts sites.

Cantarero L et al.

Biology Open, 2023

Genetic Architecture of Parkinson's Disease.

Shadrina MI et al.

Biochemistry. Biokhimiia, 2023

Glucocerebrosidase and Parkinson Disease: Molecular, Clinical, and Therapeutic Implications.

Balestrino R et al.

The Neuroscientist : a Review Journal Bringing Neurobiology, Neurology and Psychiatry, 2018

An assessment of the frequency of mutations in the GBA and VPS35 genes in Hungarian patients with sporadic Parkinson's disease.

Török R et al.

Neuroscience Letters, 2016

Genetic assessment of familial and early-onset Parkinson's disease in a Greek population.

Bozi M et al.

European Journal of Neurology, 2014

Parkin-mediated ubiquitination of mutant glucocerebrosidase leads to competition with its substrates PARIS and ARTS.

Bendikov-Bar I et al.

Orphanet Journal of Rare Diseases, 2014

Clinicogenetic study of GBA mutations in patients with familial Parkinson's disease.

Li Y et al.

Neurobiology of Aging, 2014

The neuropathology of genetic Parkinson's disease.

Poulopoulos M et al.

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

Contribution of glucocerebrosidase mutation in a large cohort of sporadic Parkinson's disease in Taiwan.

Huang CL et al.

European Journal of Neurology, 2011

The role of glucocerebrosidase mutations in Parkinson disease and Lewy body disorders.

Velayati A et al.

Current Neurology and Neuroscience Reports, 2010

The role of mitochondrial network dynamics in the pathogenesis of Charcot-Marie-Tooth disease.

Palau F et al.

Advances in Experimental Medicine and Biology, 2009

Glucocerebrosidase gene mutation is a risk factor for early onset of Parkinson disease among Taiwanese.

Wu YR et al.

Journal of Neurology, Neurosurgery, and Psychiatry, 2007

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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."