Varaico: Literature-Extracted Genetic Variants

Gene:PRKN
Variant:p.S108insFs
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PRKN

NM_004562.3:p.S108insFs

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

Therapeutic potential of Parkin and its regulation in Parkinson's disease.

Safreena N et al.

Biochemical Pharmacology, 2024

Pediatric-onset PRKN disease: New insights into an understudied population.

Gonul Oner O et al.

Journal of Parkinson's Disease, 2024

PARK Genes Link Mitochondrial Dysfunction and Alpha-Synuclein Pathology in Sporadic Parkinson's Disease.

Li W et al.

Frontiers in Cell and Developmental Biology, 2021

Language Deficits as a Preclinical Window into Parkinson's Disease: Evidence from Asymptomatic Parkin and Dardarin Mutation Carriers.

García AM et al.

Journal of the International Neuropsychological Society : Jins, 2017

Parkin genetics: one model for Parkinson's disease.

Mata IF et al.

Human Molecular Genetics, 2004

Origin of the mutations in the parkin gene in Europe: exon rearrangements are independent recurrent events, whereas point mutations may result from Founder effects.

Periquet M et al.

American Journal of Human Genetics, 2001

New mutation (R42P) of the parkin gene in the ubiquitinlike domain associated with parkinsonism.

Terreni L et al.

Neurology, 2001

A novel Cys212Tyr founder mutation in parkin and allelic heterogeneity of juvenile Parkinsonism in a population from North West Colombia.

Pineda-Trujillo N et al.

Neuroscience Letters, 2001

Familial Parkinson's disease. Alpha-synuclein and parkin.

Mizuno Y et al.

Advances in Neurology, 2001

Association between early-onset Parkinson's disease and mutations in the parkin gene.

Lücking CB et al.

The New England Journal of Medicine, 2000

Progress in the clinical and molecular genetics of familial parkinsonism.

Kitada T et al.

Neurogenetics, 2000

A wide variety of mutations in the parkin gene are responsible for autosomal recessive parkinsonism in Europe. French Parkinson's Disease Genetics Study Group and the European Consortium on Genetic Susceptibility in Parkinson's Disease.

Abbas N et al.

Human Molecular Genetics, 1999

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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."