Varaico: Literature-Extracted Genetic Variants

Gene:PLA2G6
Variant:p.R635Q
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PLA2G6

NM_003560.4:p.R635Q

Associated Papers

An estimation of global genetic prevalence of PLA2G6-associated neurodegeneration.

Kurtovic-Kozaric A et al.

Orphanet Journal of Rare Diseases, 2024

A novel variant of PLA2G6 gene related early-onset parkinsonism: a case report and literature review.

Cai D et al.

Frontiers in Neurology, 2024

Genetic Movement Disorders Commonly Seen in Asians.

Jagota P et al.

Movement Disorders Clinical Practice, 2023

Dissecting the Phenotype and Genotype of PLA2G6-Related Parkinsonism.

Magrinelli F et al.

Movement Disorders : Official Journal of the Movement Disorder Society, 2022

Novel PLA2G6 Pathogenic Variants in Chinese Patients With PLA2G6-Associated Neurodegeneration.

Wan Y et al.

Frontiers in Neurology, 2022

Case Report: A case of PLA2G6 gene-related early-onset Parkinson's disease and review of literature.

Gao L et al.

Frontiers in Neuroscience, 2022

PLA2G6 variants associated with the number of affected alleles in Parkinson's disease in Japan.

Daida K et al.

Neurobiology of Aging, 2021

Pluripotent Stem Cell Derived Neurons as In Vitro Models for Studying Autosomal Recessive Parkinson's Disease (ARPD): PLA2G6 and Other Gene Loci.

Gopurappilly R

Advances in Experimental Medicine and Biology, 2021

The GenomeAsia 100K Project enables genetic discoveries across Asia.

Unknown Author

Nature, 2019

31802016 (PubMed )
Supplement: 41586_2019_1793_MOESM3_ESM.xlsx › S4b_-_Disease_Var

PLA2G6-associated neurodegeneration presenting as a complicated form of hereditary spastic paraplegia.

Koh K et al.

Journal of Human Genetics, 2019

Correction: PLA2G6-associated neurodegeneration presenting as a complicated form of hereditary spastic paraplegia.

Koh K et al.

Journal of Human Genetics, 2019

Early-Onset Parkinson's Disease Caused by PLA2G6 Compound Heterozygous Mutation, a Case Report and Literature Review.

Shen T et al.

Frontiers in Neurology, 2019

Genetic analysis of ATP13A2, PLA2G6 and FBXO7 in a cohort of Chinese patients with early-onset Parkinson's disease.

Shen T et al.

Scientific Reports, 2018

PLA2G6-Associated Neurodegeneration (PLAN): Review of Clinical Phenotypes and Genotypes.

Guo YP et al.

Frontiers in Neurology, 2018

Mutation screening of PLA2G6 in Japanese patients with early onset dystonia-parkinsonism.

Yamashita C et al.

Journal of Neural Transmission (vienna, Austria : 1996), 2017

Genetic Analysis of PLA2G6 in 22 Indian Families with Infantile Neuroaxonal Dystrophy, Atypical Late-Onset Neuroaxonal Dystrophy and Dystonia Parkinsonism Complex.

Kapoor S et al.

Plos One, 2016

27196560 (PubMed )
Supplement: pone.0155605.s001.pdf

A novel homozygous PLA2G6 mutation causes dystonia-parkinsonism.

Malaguti MC et al.

Parkinsonism & Related Disorders, 2015

PLA2G6-associated Dystonia-Parkinsonism: Case Report and Literature Review.

Karkheiran S et al.

Tremor and Other Hyperkinetic Movements (new York, N.y.), 2015

Novel PLA2G6 mutations associated with an exonic deletion due to non-allelic homologous recombination in a patient with infantile neuroaxonal dystrophy.

Yamamoto T et al.

Human Genome Variation, 2015

27081553 (PubMed )
Supplement: hgv201548-s2.xls › Table_S2

Genetics of Parkinson's disease: the yield.

Spatola M et al.

Parkinsonism & Related Disorders, 2014

Genetics and genomics of Parkinson's disease.

Lin MK et al.

Genome Medicine, 2014

Phenotypic spectrum of patients with PLA2G6 mutation and PARK14-linked parkinsonism.

Yoshino H et al.

Neurology, 2010

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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."