×
Entrez Id:
2629
Gene Symbol:
GBA
GBA
Gaucher Disease, Type 1
1.000
CausalMutation
CLINVAR
Integrated Genetic Analysis of Racial Differences of Common GBA Variants in Parkinson's Disease: A Meta-Analysis.
29527153
2018
×
Entrez Id:
2629
Gene Symbol:
GBA
GBA
Gaucher Disease, Type 1
1.000
CausalMutation
CLINVAR
Early manifestations of type 1 Gaucher disease in presymptomatic children diagnosed after parental carrier screening.
27735925
2017
×
Entrez Id:
2629
Gene Symbol:
GBA
GBA
Gaucher Disease, Type 1
1.000
CausalMutation
CLINVAR
ER Stress and Autophagic Perturbations Lead to Elevated Extracellular α-Synuclein in GBA-N370S Parkinson's iPSC-Derived Dopamine Neurons.
26905200
2016
×
Entrez Id:
2629
Gene Symbol:
GBA
GBA
Gaucher Disease, Type 1
1.000
CausalMutation
CLINVAR
Mutations of glucocerebrosidase gene and susceptibility to Parkinson's disease: An updated meta-analysis in a European population.
26868973
2016
×
Entrez Id:
2629
Gene Symbol:
GBA
GBA
Gaucher Disease, Type 1
1.000
CausalMutation
CLINVAR
Differential effects of severe vs mild GBA mutations on Parkinson disease.
25653295
2015
×
Entrez Id:
2629
Gene Symbol:
GBA
GBA
Gaucher Disease, Type 1
1.000
CausalMutation
CLINVAR
Gaucher disease types 1 and 3: Phenotypic characterization of large populations from the ICGG Gaucher Registry.
26096741
2015
×
Entrez Id:
2629
Gene Symbol:
GBA
GBA
Gaucher Disease, Type 1
1.000
CausalMutation
CLINVAR
iPSC-derived dopamine neurons reveal differences between monozygotic twins discordant for Parkinson's disease.
25456120
2014
×
Entrez Id:
2629
Gene Symbol:
GBA
GBA
Gaucher Disease, Type 1
1.000
CausalMutation
CLINVAR
Novel mutations in the glucocerebrosidase gene of Indian patients with Gaucher disease.
24522292
2014
×
Entrez Id:
2629
Gene Symbol:
GBA
GBA
Gaucher Disease, Type 1
1.000
CausalMutation
CLINVAR
Long term effects of enzyme replacement therapy in an Italian cohort of type 3 Gaucher patients.
25127542
2014
×
Entrez Id:
2629
Gene Symbol:
GBA
GBA
Gaucher Disease, Type 1
1.000
CausalMutation
CLINVAR
Comparison of Parkinson risk in Ashkenazi Jewish patients with Gaucher disease and GBA heterozygotes.
24756352
2014
×
Entrez Id:
2629
Gene Symbol:
GBA
GBA
Gaucher Disease, Type 1
1.000
CausalMutation
CLINVAR
Clinical and biochemical differences in patients having Parkinson disease with vs without GBA mutations.
23699752
2013
×
Entrez Id:
2629
Gene Symbol:
GBA
GBA
Gaucher Disease, Type 1
1.000
CausalMutation
CLINVAR
Adult type 3 Gaucher disease as manifestation of R463C/Rec Nci I mutation: first reported case in the world literature.
24482953
2013
×
Entrez Id:
2629
Gene Symbol:
GBA
GBA
Gaucher Disease, Type 1
1.000
CausalMutation
CLINVAR
A multicenter study of glucocerebrosidase mutations in dementia with Lewy bodies.
23588557
2013
×
Entrez Id:
2629
Gene Symbol:
GBA
GBA
Gaucher Disease, Type 1
1.000
CausalMutation
CLINVAR
Phenotype diversity in type 1 Gaucher disease: discovering the genetic basis of Gaucher disease/hematologic malignancy phenotype by individual genome analysis.
22493294
2012
×
Entrez Id:
2629
Gene Symbol:
GBA
GBA
Gaucher Disease, Type 1
1.000
CausalMutation
CLINVAR
Meta-analysis of Parkinson's disease: identification of a novel locus, RIT2.
22451204
2012
×
Entrez Id:
2629
Gene Symbol:
GBA
GBA
Gaucher Disease, Type 1
1.000
CausalMutation
CLINVAR
Pharmacological chaperones facilitate the post-ER transport of recombinant N370S mutant β-glucocerebrosidase in plant cells: evidence that N370S is a folding mutant.
22592100
2012
×
Entrez Id:
2629
Gene Symbol:
GBA
GBA
Gaucher Disease, Type 1
1.000
GeneticVariation
CLINVAR
Accumulation and distribution of α-synuclein and ubiquitin in the CNS of Gaucher disease mouse models.
21257328
2011
×
Entrez Id:
2629
Gene Symbol:
GBA
GBA
Gaucher Disease, Type 1
1.000
CausalMutation
CLINVAR
Clinical and genetic characteristics of Korean patients with Gaucher disease.
20729108
2011
×
Entrez Id:
2629
Gene Symbol:
GBA
GBA
Gaucher Disease, Type 1
1.000
GeneticVariation
CLINVAR
Gaucher disease with communicating hydrocephalus and cardiac involvement.
19816973
2010
×
Entrez Id:
2629
Gene Symbol:
GBA
GBA
Gaucher Disease, Type 1
1.000
CausalMutation
CLINVAR
Multicenter analysis of glucocerebrosidase mutations in Parkinson's disease.
19846850
2009
×
Entrez Id:
2629
Gene Symbol:
GBA
GBA
Gaucher Disease, Type 1
1.000
CausalMutation
CLINVAR
Phenotypic heterogeneity of N370S homozygotes with type I Gaucher disease: an analysis of 798 patients from the ICGG Gaucher Registry.
18979180
2008
×
Entrez Id:
2629
Gene Symbol:
GBA
GBA
Gaucher Disease, Type 1
1.000
CausalMutation
CLINVAR
Gaucher disease: mutation and polymorphism spectrum in the glucocerebrosidase gene (GBA).
18338393
2008
×
Entrez Id:
2629
Gene Symbol:
GBA
GBA
Gaucher Disease, Type 1
1.000
CausalMutation
CLINVAR
Molecular analysis of Turkish Gaucher disease patients: identification of novel mutations in glucocerebrosidase (GBA) gene.
18586596
2008
×
Entrez Id:
2629
Gene Symbol:
GBA
GBA
Gaucher Disease, Type 1
1.000
CausalMutation
CLINVAR
Genetic and clinical features of patients with Gaucher disease in Hungary.
17395504
2007
×
Entrez Id:
2629
Gene Symbol:
GBA
GBA
Gaucher Disease, Type 1
1.000
CausalMutation
CLINVAR
Analyses of variant acid beta-glucosidases: effects of Gaucher disease mutations.
16293621
2006