|
Gaucher Disease, Type 1
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
The identification of eight novel glucocerebrosidase (GBA) mutations in patients with Gaucher disease.
|
11933202 |
2002 |
|
Gaucher Disease, Type 1
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Glucocerebrosidase mutations in Gaucher disease.
|
8790604 |
1994 |
|
Gaucher Disease, Type 1
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
A novel mutation of the beta-glucocerebrosidase gene associated with neurologic manifestations in three sibs.
|
9650766 |
1998 |
|
Gaucher Disease, Type 1
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Characterization of human glucocerebrosidase from different mutant alleles.
|
1704891 |
1991 |
|
Gaucher Disease, Type 1
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Variant Gaucher disease characterized by dysmorphic features, absence of cardiovascular involvement, laryngospasm, and compound heterozygosity for a novel mutation (D409H/C16S).
|
11992489 |
2002 |
|
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 |
Analyses of variant acid beta-glucosidases: effects of Gaucher disease mutations.
|
16293621 |
2006 |
|
Gaucher Disease, Type 1
|
1.000 |
Biomarker
|
disease |
BEFREE |
This multicenter, open-label, 12-month study examined the safety and efficacy of velaglucerase alfa in patients with GD1 previously receiving imiglucerase.
|
23339116 |
2013 |
|
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 |
GeneticVariation
|
disease |
UNIPROT |
Glucocerebrosidase mutations and risk of Parkinson disease in Chinese patients.
|
17620502 |
2007 |
|
Gaucher Disease, Type 1
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
A novel mutation (V191G) in a German-British type 1 Gaucher disease patient. Mutations in brief no. 131. Online.
|
10206680 |
1998 |
|
Gaucher Disease, Type 1
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Hematologically important mutations: Gaucher disease.
|
9516376 |
1998 |
|
Gaucher Disease, Type 1
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Identification and expression of acid beta-glucosidase mutations causing severe type 1 and neurologic type 2 Gaucher disease in non-Jewish patients.
|
9153297 |
1997 |
|
Gaucher Disease, Type 1
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Exhaustive screening of the acid beta-glucosidase gene, by fluorescence-assisted mismatch analysis using universal primers: mutation profile and genotype/phenotype correlations in Gaucher disease.
|
9683600 |
1998 |
|
Gaucher Disease, Type 1
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
DNA analysis of an uncommon missense mutation in a Gaucher disease patient of Jewish-Polish-Russian descent.
|
7916532 |
1994 |
|
Gaucher Disease, Type 1
|
1.000 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Hyperferritinemia and iron overload in type 1 Gaucher disease.
|
20575041 |
2010 |
|
Gaucher Disease, Type 1
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Glucocerebrosidase mutations among Chinese neuronopathic and non-neuronopathic Gaucher disease patients.
|
10360404 |
1999 |
|
Gaucher Disease, Type 1
|
1.000 |
Biomarker
|
disease |
CTD_human |
Evaluation of quinazoline analogues as glucocerebrosidase inhibitors with chaperone activity.
|
21250698 |
2011 |
|
Gaucher Disease, Type 1
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Six new Gaucher disease mutations.
|
9554454 |
1998 |
|
Gaucher Disease, Type 1
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Here, we describe the case of an adult non-Jewish Caucasian male with a heterozygous Gaucher disease type 1 (mutations c.1226A>G and c.1448T>C in the GBA1 gene) who presented with atypical morphology of GC on bone marrow examination.
|
21113739 |
2011 |
|
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 |
Biomarker
|
disease |
BEFREE |
These findings demonstrate that loss of GBA function may contribute to SNCA accumulation through inhibition of autophagy via PPP2A inactivation, thereby providing a mechanistic basis for the increased PD risk associated with GBA deficiency.
|
26378614 |
2015 |
|
Gaucher Disease, Type 1
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Genotypes at the acid beta-glucosidase locus in selected Gaucher disease Type 1 patients were determined by allele-specific oligonucleotide hybridization of amplified genomic DNA.
|
2324100 |
1990 |
|
Gaucher Disease, Type 1
|
1.000 |
Biomarker
|
disease |
BEFREE |
Ann Allergy 72: 1994: 395-403) and glucocerebrosidase for Gaucher disease (Niederau C, vom Dahl S, Haussinger D. First long-term results of imiglucerase therapy of type 1 Gaucher disease.Eur J Med Res 1998: 3: 25-30).
|
10450855 |
1999 |
|
Gaucher Disease, Type 1
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Detection of three rare (G377S, T134P and 1451delAC), and two novel mutations (G195W and Rec[1263del55;1342G>C]] in Spanish Gaucher disease patients. Mutation in brief no. 251. Online.
|
10447266 |
1999 |