(Q34398442)

1 August 2017

The glucocerobrosidase E326K variant predisposes to Parkinson's disease, but does not cause Gaucher's disease (English)

1 reference

Kailash Phatechand Bhatia

1 August 2017

1 reference

1 reference

15

Kailash P Bhatia

1 reference

1 August 2017

Raquel Duran

1

0 references

Derralynn A Hughes

Derralynn Hughes

8

0 references

Nicholas W. Wood

Nicholas W Wood

16

0 references

Patricia Limousin

13

Patricia Limousin

1 reference

1 August 2017

12

Andrew J Lees

1 reference

1 August 2017

17

John Hardy

1 reference

1 August 2017

11

Anthony H Schapira

1 reference

1 August 2017

18

Tom Foltynie

1 reference

1 August 2017

14

Paul R Jarman

1 reference

1 August 2017

Niccolo E Mencacci

2

1 reference

1 August 2017

Aikaterini V Angeli

3

1 reference

1 August 2017

Maryam Shoai

4

1 reference

1 August 2017

Emma Deas

5

1 reference

1 August 2017

Henry Houlden

6

1 reference

1 August 2017

Atul Mehta

7

1 reference

1 August 2017

Timothy M Cox

9

1 reference

1 August 2017

Patrick Deegan

10

1 reference

1 August 2017

language of work or name

English

0 references

publication date

5 December 2012

1 reference

1 August 2017

1 reference

1 August 2017

28

1 reference

1 August 2017

2

1 reference

1 August 2017

232-236

1 reference

Glucocerebrosidase deficiency in substantia nigra of parkinson disease brains

1 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4208290

Novel pathogenic mutations in the glucocerebrosidase locus

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4208290

Meta-analysis of Parkinson's disease: identification of a novel locus, RIT2.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4208290

Hyposmia and cognitive impairment in Gaucher disease patients and carriers

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4208290

The enigma of the E326K mutation in acid β-glucocerebrosidase

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4208290

Imputation of sequence variants for identification of genetic risks for Parkinson's disease: a meta-analysis of genome-wide association studies

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4208290

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4208290

Multicenter analysis of glucocerebrosidase mutations in Parkinson's disease.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4208290

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4208290

Mutations for Gaucher disease confer high susceptibility to Parkinson disease

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4208290

Glucocerebrosidase mutations in 108 neuropathologically confirmed cases of multiple system atrophy

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4208290

Glucocerebrosidase mutations in clinical and pathologically proven Parkinson's disease

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4208290

Mutations in GBA are associated with familial Parkinson disease susceptibility and age at onset

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4208290

Phenotype, genotype, and worldwide genetic penetrance of LRRK2-associated Parkinson's disease: a case-control study

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4208290

Complete screening for glucocerebrosidase mutations in Parkinson disease patients from Portugal

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4208290

Mutations in the glucocerebrosidase gene are associated with early-onset Parkinson disease

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4208290

Parkinsonism among Gaucher disease carriers

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4208290

Functional analysis of 13 GBA mutant alleles identified in Gaucher disease patients: Pathogenic changes and "modifier" polymorphisms.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4208290

Gaucher disease: understanding the molecular pathogenesis of sphingolipidoses

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4208290

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4208290

Accuracy of clinical diagnosis of idiopathic Parkinson's disease: a clinico-pathological study of 100 cases

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4208290

The E326K mutation and Gaucher disease: mutation or polymorphism?

6 July 2018

1 reference

Crossref

https://api.crossref.org/works/10.1002%2FMDS.25248

Perinatal lethal phenotype with generalized ichthyosis in a type 2 Gaucher disease patient with the [L444P;E326K]/P182L genotype: effect of the E326K change in neonatal and classic forms of the disease

21 January 2018

1 reference

Crossref

https://api.crossref.org/works/10.1002%2FMDS.25248

Detection of 12 new mutations in Gaucher disease Brazilian patients.

21 January 2018

1 reference

Crossref

https://api.crossref.org/works/10.1002%2FMDS.25248

Two new mild homozygous mutations in Gaucher disease patients: Clinical signs and biochemical analyses

21 January 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/23225227

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Is E326K glucocerebrosidase a polymorphic or pathological variant?

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/23225227

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1002/MDS.25248

1 reference

1 August 2017

1 reference

1 August 2017

1 reference