Novel pathogenic mutations in the glucocerebrosidase locus (Q36186922)

12 August 2017

Novel pathogenic mutations in the glucocerebrosidase locus (English)

1 reference

12 August 2017

8

John Hardy

1 reference

12 August 2017

7

Anthony H V Schapira

1 reference

12 August 2017

Raquel Duran

1

1 reference

12 August 2017

Alisdair McNeill

2

1 reference

12 August 2017

Atul Mehta

3

1 reference

12 August 2017

Derralyn Hughes

4

1 reference

12 August 2017

Timothy Cox

5

1 reference

12 August 2017

Patrick Deegan

6

1 reference

12 August 2017

18 May 2012

1 reference

Molecular Genetics and Metabolism

12 August 2017

1 reference

12 August 2017

106

1 reference

12 August 2017

4

1 reference

12 August 2017

495-497

1 reference

Hyposmia and cognitive impairment in Gaucher disease patients and carriers

12 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3426931

SDM--a server for predicting effects of mutations on protein stability and malfunction

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3426931

LOVD v.2.0: the next generation in gene variant databases

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3426931

Protein structure analysis of mutations causing inheritable diseases. An e-Science approach with life scientist friendly interfaces

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3426931

A method and server for predicting damaging missense mutations

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3426931

Multicenter analysis of glucocerebrosidase mutations in Parkinson's disease.

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3426931

Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3426931

Glucocerebrosidase mutations in 108 neuropathologically confirmed cases of multiple system atrophy

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3426931

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

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3426931

Mutation analysis and genotype/phenotype relationships of Gaucher disease patients in Spain

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3426931

Gaucher disease among Chinese patients: review on genotype/phenotype correlation from 29 patients and identification of novel and rare alleles

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3426931

Hematologically important mutations: Gaucher disease

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3426931

The Molecular Biology Toolkit (MBT): a modular platform for developing molecular visualization applications

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3426931

Analysis and classification of 304 mutant alleles in patients with type 1 and type 3 Gaucher disease

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3426931

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

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3426931

Gaucher disease. Clinical, laboratory, radiologic, and genetic features of 53 patients

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3426931

Mutation analysis in 46 British and Irish patients with Gaucher's disease

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3426931

Human Gene Mutation Database (HGMD): 2003 update.

2 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3426931

An evolutionary and structure-based docking model for glucocerebrosidase-saposin C and glucocerebrosidase-substrate interactions - relevance for Gaucher disease

23 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3426931

Six new Gaucher disease mutations

21 October 2018

1 reference

Crossref

https://api.crossref.org/works/10.1016%2FJ.YMGME.2012.05.006

Molecular analysis of Turkish Gaucher disease patients: identification of novel mutations in glucocerebrosidase (GBA) gene

7 January 2021

1 reference

Crossref

https://api.crossref.org/works/10.1016%2FJ.YMGME.2012.05.006

10.1016/J.YMGME.2012.05.006

7 January 2021

Identifiers

DOI

1 reference

12 August 2017

1 reference

12 August 2017

1 reference