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