×
Entrez Id:
2629
Gene Symbol:
GBA
GBA
Gaucher Disease
0.900
CausalMutation
CLINVAR
Clinical and molecular characteristics of patients with Gaucher disease in Southern China.
27865684
2018
×
Entrez Id:
2629
Gene Symbol:
GBA
GBA
Gaucher Disease
0.900
GeneticVariation
CLINVAR
Thalamic and dentate nucleus abnormalities in the brain of children with Gaucher disease.
30328501
2018
×
Entrez Id:
2629
Gene Symbol:
GBA
GBA
Gaucher Disease
0.900
CausalMutation
CLINVAR
Biochemical response to substrate reduction therapy versus enzyme replacement therapy in Gaucher disease type 1 patients.
27008851
2016
×
Entrez Id:
2629
Gene Symbol:
GBA
GBA
Gaucher Disease
0.900
CausalMutation
CLINVAR
Clinical course and prognosis in patients with Gaucher disease and parkinsonism.
27123476
2016
×
Entrez Id:
2629
Gene Symbol:
GBA
GBA
Gaucher Disease
0.900
CausalMutation
CLINVAR
Identification of novel splice site mutation IVS9 + 1(G > A) and novel complex allele G355R/R359X in Type 1 Gaucher patients heterozygous for mutation N370S.
27222815
2016
×
Entrez Id:
2629
Gene Symbol:
GBA
GBA
Gaucher Disease
0.900
GeneticVariation
CLINVAR
Mutations in glucocerebrosidase are a major genetic risk factor for Parkinson's disease and increase susceptibility to dementia in a Flanders-Belgian cohort.
27397011
2016
×
Entrez Id:
2629
Gene Symbol:
GBA
GBA
Gaucher Disease
0.900
CausalMutation
CLINVAR
A phase 2 multi-center, open-label, switch-over trial to evaluate the safety and efficacy of Abcertin® in patients with type 1 Gaucher disease.
25829804
2015
×
Entrez Id:
2629
Gene Symbol:
GBA
GBA
Gaucher Disease
0.900
CausalMutation
CLINVAR
Altered TFEB-mediated lysosomal biogenesis in Gaucher disease iPSC-derived neuronal cells.
26220978
2015
×
Entrez Id:
2629
Gene Symbol:
GBA
GBA
Gaucher Disease
0.900
CausalMutation
CLINVAR
Glucocerebrosidase mutations in primary parkinsonism.
25249066
2014
×
Entrez Id:
2629
Gene Symbol:
GBA
GBA
Gaucher Disease
0.900
CausalMutation
CLINVAR
Patients with type 1 Gaucher disease in South Florida, USA: demographics, genotypes, disease severity and treatment outcomes.
24685312
2014
×
Entrez Id:
2629
Gene Symbol:
GBA
GBA
Gaucher Disease
0.900
CausalMutation
CLINVAR
Functional analysis of 11 novel GBA alleles.
24022302
2014
×
Entrez Id:
2629
Gene Symbol:
GBA
GBA
Gaucher Disease
0.900
GeneticVariation
CLINVAR
Functional analysis of 11 novel GBA alleles.
24022302
2014
×
Entrez Id:
2629
Gene Symbol:
GBA
GBA
Gaucher Disease
0.900
CausalMutation
CLINVAR
A common and two novel GBA mutations in Thai patients with Gaucher disease.
23719189
2013
×
Entrez Id:
2629
Gene Symbol:
GBA
GBA
Gaucher Disease
0.900
CausalMutation
CLINVAR
Novel mutations in the glucocerebrosidase gene of brazilian patients with Gaucher disease.
23430543
2013
×
Entrez Id:
2629
Gene Symbol:
GBA
GBA
Gaucher Disease
0.900
GeneticVariation
CLINVAR
A multicenter study of glucocerebrosidase mutations in dementia with Lewy bodies.
23588557
2013
×
Entrez Id:
2629
Gene Symbol:
GBA
GBA
Gaucher Disease
0.900
CausalMutation
CLINVAR
A twelve-year follow-up study on a case of early-onset parkinsonism preceding clinical manifestation of Gaucher disease.
23430873
2012
×
Entrez Id:
2629
Gene Symbol:
GBA
GBA
Gaucher Disease
0.900
GeneticVariation
CLINVAR
DLB and PDD: a role for mutations in dementia and Parkinson disease genes?
22118943
2012
×
Entrez Id:
2629
Gene Symbol:
GBA
GBA
Gaucher Disease
0.900
CausalMutation
CLINVAR
Novel pathogenic mutations in the glucocerebrosidase locus.
22658918
2012
×
Entrez Id:
2629
Gene Symbol:
GBA
GBA
Gaucher Disease
0.900
CausalMutation
CLINVAR
Clinical and genetic characteristics of Gaucher disease according to phenotypic subgroups.
22375149
2012
×
Entrez Id:
2629
Gene Symbol:
GBA
GBA
Gaucher Disease
0.900
GeneticVariation
CLINVAR
The enigma of the E326K mutation in acid β-glucocerebrosidase.
21831682
2012
×
Entrez Id:
2629
Gene Symbol:
GBA
GBA
Gaucher Disease
0.900
CausalMutation
CLINVAR
Pediatric Gaucher experience in South Marmara region of Turkey.
22234757
2011
×
Entrez Id:
2629
Gene Symbol:
GBA
GBA
Gaucher Disease
0.900
CausalMutation
CLINVAR
Skin ultrastructural findings in type 2 Gaucher disease: diagnostic implications.
21982627
2011
×
Entrez Id:
2629
Gene Symbol:
GBA
GBA
Gaucher Disease
0.900
CausalMutation
CLINVAR
Coinheritance of Gaucher disease and α-thalassemia resulting in confusion between two inherited hematologic diseases.
20846888
2011
×
Entrez Id:
2629
Gene Symbol:
GBA
GBA
Gaucher Disease
0.900
GeneticVariation
CLINVAR
A monozygotic twin pair with highly discordant Gaucher phenotypes.
21056933
2011
×
Entrez Id:
2629
Gene Symbol:
GBA
GBA
Gaucher Disease
0.900
GeneticVariation
CLINVAR
Characterization of the c.(-203)A>G variant in the glucocerebrosidase gene and its association with phenotype in Gaucher disease.
21087600
2011