Varaico: Literature-Extracted Genetic Variants

Gene:GBA1
Variant:p.R502Splc
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GBA1

NM_000157.4:p.R502Splc

Associated Papers

Cognitive Decline in Parkinsonism: From Clinical Phenotypes to the Genetic Background.

Koros C et al.

Biomedicines, 2025

Effects of glucocerebrosidase gene variations on the risk of Parkinson's disease dementia: a meta-analysis.

Li Q et al.

Frontiers in Aging Neuroscience, 2025

GBA1 variants in Brazilian Gaucher disease patients.

Basgalupp SP et al.

Molecular Genetics and Metabolism Reports, 2023

GBA1 in Parkinson's disease: variant detection and pathogenicity scoring matters.

Gabbert C et al.

Bmc Genomics, 2023

37312046 (PubMed )
Supplement: 12864_2023_9417_MOESM1_ESM.pdf

Role of Lysosomal Gene Variants in Modulating GBA-Associated Parkinson's Disease Risk.

Straniero L et al.

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

35262230 (PubMed )
Supplement: NIHMS1825319-supplement-Supplementary_Material.zip › MDS_28987_Supplementary_Table_3.xlsx › Foglio1

Cognitive Impairment in Genetic Parkinson's Disease.

Planas-Ballvé A et al.

Parkinson's Disease, 2021

Glucocerebrosidase Defects as a Major Risk Factor for Parkinson's Disease.

Avenali M et al.

Frontiers in Aging Neuroscience, 2020

Evaluation of the frequency of non-motor symptoms of Parkinson's disease in adult patients with Gaucher disease type 1.

Wilke MVMB et al.

Orphanet Journal of Rare Diseases, 2019

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

Balestrino R et al.

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

Alleles with more than one mutation can complicate genotype/phenotype studies in Mendelian disorders: Lessons from Gaucher disease.

Hassan S et al.

Molecular Genetics and Metabolism, 2018

Glucocerebrosidase mutations and neuropsychiatric phenotypes in Parkinson's disease and Lewy body dementias: Review and meta-analyses.

Creese B et al.

American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics, 2018

Glucocerebrosidase Mutations in Parkinson Disease.

O'Regan G et al.

Journal of Parkinson's Disease, 2017

The relationship between glucocerebrosidase mutations and Parkinson disease.

Migdalska-Richards A et al.

Journal of Neurochemistry, 2016

Glucocerebrosidase mutations in primary parkinsonism.

Asselta R et al.

Parkinsonism & Related Disorders, 2014

Novel mutations in the glucocerebrosidase gene of brazilian patients with Gaucher disease.

Siebert M et al.

Jimd Reports, 2013

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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."