Condition: Gaucher Disease


rs11986414 in CLN8 gene and Gaucher Disease PMID 22388998 2012 Genome-wide association study of N370S homozygous Gaucher disease reveals the candidacy of CLN8 gene as a genetic modifier contributing to extreme phenotypic variation.

rs104886460 in GBA gene and Gaucher Disease PMID 23430873 2012 A twelve-year follow-up study on a case of early-onset parkinsonism preceding clinical manifestation of Gaucher disease.

PMID 1558964 1992 Mutations in Jewish patients with Gaucher disease.

PMID 10796875 2000 Analysis and classification of 304 mutant alleles in patients with type 1 and type 3 Gaucher disease.

PMID 10649495 2000 Glucocerebrosidase gene mutations in patients with type 2 Gaucher disease.

PMID 16293621 2006 Analyses of variant acid beta-glucosidases: effects of Gaucher disease mutations.

PMID 17059888 2007 Detection of 12 new mutations in Gaucher disease Brazilian patients.

PMID 17574891 2007 Gaucher disease: different clinical manifestations associated with a rare mutation (R48W) in a Lebanese family.

PMID 9153297 1997 Identification and expression of acid beta-glucosidase mutations causing severe type 1 and neurologic type 2 Gaucher disease in non-Jewish patients.

PMID 8790604 1994 Glucocerebrosidase mutations in Gaucher disease.

PMID 27222815 2016 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.

PMID 22658918 2012 Novel pathogenic mutations in the glucocerebrosidase locus.

PMID 10757640 2000 Gaucher disease: expression and characterization of mild and severe acid beta-glucosidase mutations in Portuguese type 1 patients.

PMID 20846888 2011 Coinheritance of Gaucher disease and α-thalassemia resulting in confusion between two inherited hematologic diseases.

PMID 18338393 2008 Gaucher disease: mutation and polymorphism spectrum in the glucocerebrosidase gene (GBA).

PMID 17689991 2007 Molecular characterization of type 3 (neuronopathic) Gaucher disease in Thai patients.

PMID 27865684 2018 Clinical and molecular characteristics of patients with Gaucher disease in Southern China.

PMID 22118943 2012 DLB and PDD: a role for mutations in dementia and Parkinson disease genes?

PMID 23588557 2013 A multicenter study of glucocerebrosidase mutations in dementia with Lewy bodies.

PMID 21831682 2012 The enigma of the E326K mutation in acid β-glucocerebrosidase.

PMID 1864608 1991 Three unique base pair changes in a family with Gaucher disease.

PMID 10079102 1999 Non-pseudogene-derived complex acid beta-glucosidase mutations causing mild type 1 and severe type 2 gaucher disease.

PMID 27397011 2016 Mutations in glucocerebrosidase are a major genetic risk factor for Parkinson's disease and increase susceptibility to dementia in a Flanders-Belgian cohort.

PMID 21087600 2011 Characterization of the c.(-203)A>G variant in the glucocerebrosidase gene and its association with phenotype in Gaucher disease.

PMID 16185900 2006 Hematologically important mutations: Gaucher disease.

PMID 15605411 2005 Identification and functional characterization of five novel mutant alleles in 58 Italian patients with Gaucher disease type 1.

PMID 24022302 2014 Functional analysis of 11 novel GBA alleles.

PMID 22375149 2012 Clinical and genetic characteristics of Gaucher disease according to phenotypic subgroups.

PMID 20729108 2011 Clinical and genetic characteristics of Korean patients with Gaucher disease.

PMID 21982627 2011 Skin ultrastructural findings in type 2 Gaucher disease: diagnostic implications.

PMID 8774051 1996 Gaucher disease: four families with previously undescribed mutations.

PMID 8889578 1996 Glucocerebrosidase (Gaucher disease).

PMID 7500895 1995 Gaucher disease.

PMID 21056933 2011 A monozygotic twin pair with highly discordant Gaucher phenotypes.

PMID 17395504 2007 Genetic and clinical features of patients with Gaucher disease in Hungary.

PMID 16086325 2005 Gaucher mutation N188S is associated with myoclonic epilepsy.

PMID 20004867 2010 Gaucher disease patient with myoclonus epilepsy and a novel mutation.

PMID 15146461 2004 Expression studies revealed that the c.1093G>A (p.E326K) change, which was never found alone in a Gaucher disease-causing allele, when found in a double mutant such as [c.680A>G; c.1093G>A] ([p.N188S; p.E326K]) and [c.1448T>C; c.1093G>A] ([p.L444P; p.E326K]), decreases activity compared to the activity found for the other mutation alone.

PMID 1961718 1991 Identification of the second common Jewish Gaucher disease mutation makes possible population-based screening for the heterozygous state.

PMID 30328501 2018 Thalamic and dentate nucleus abnormalities in the brain of children with Gaucher disease.

PMID 12587096 2003 Reciprocal and nonreciprocal recombination at the glucocerebrosidase gene region: implications for complexity in Gaucher disease.

PMID 16329099 2006 Characterization of two novel GBA mutations causing Gaucher disease that lead to aberrant RNA species by using functional splicing assays.

PMID 12791040 2003 Gaucher's disease: identification of novel mutant alleles and genotype-phenotype relationships.

PMID 23430543 2013 Novel mutations in the glucocerebrosidase gene of brazilian patients with Gaucher disease.

PMID 23719189 2013 A common and two novel GBA mutations in Thai patients with Gaucher disease.

PMID 7981693 1994 New Gaucher disease mutations in exon 10: a novel L444R mutation produces a new NciI site the same as L444P.

PMID 14757438 2004 Expression and functional characterization of mutated glucocerebrosidase alleles causing Gaucher disease in Spanish patients.

PMID 10679038 2000 Novel point mutation (W184R) in neonatal type 2 Gaucher disease.

PMID 26220978 2015 Altered TFEB-mediated lysosomal biogenesis in Gaucher disease iPSC-derived neuronal cells.

PMID 16185907 2005 Gaucher disease in Colombia: mutation identification and comparison to other Hispanic populations.

PMID 8432537 1993 Identification of six new Gaucher disease mutations.

PMID 8294487 1994 Analysis of human acid beta-glucosidase by site-directed mutagenesis and heterologous expression.

PMID 25249066 2014 Glucocerebrosidase mutations in primary parkinsonism.

PMID 11933202 2002 The identification of eight novel glucocerebrosidase (GBA) mutations in patients with Gaucher disease.

PMID 25829804 2015 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.

PMID 27123476 2016 Clinical course and prognosis in patients with Gaucher disease and parkinsonism.

PMID 27008851 2016 Biochemical response to substrate reduction therapy versus enzyme replacement therapy in Gaucher disease type 1 patients.

PMID 20947659 2011 Large-scale screening of the Gaucher's disease-related glucocerebrosidase gene in Europeans with Parkinson's disease.

PMID 22234757 2011 Pediatric Gaucher experience in South Marmara region of Turkey.

PMID 21704274 2011 Identification of recombinant alleles using quantitative real-time PCR implications for Gaucher disease.

PMID 24685312 2014 Patients with type 1 Gaucher disease in South Florida, USA: demographics, genotypes, disease severity and treatment outcomes.

PMID 2508065 1989 Comparison of RNase A, a chemical cleavage and GC-clamped denaturing gradient gel electrophoresis for the detection of mutations in exon 9 of the human acid beta-glucosidase gene.

PMID 9279145 1997 Mutation analysis in 46 British and Irish patients with Gaucher's disease.