(Q33916685)

30 July 2017

title

Greater risk of parkinsonism associated with non-N370S GBA1 mutations (English)

1 reference

30 July 2017

1 reference

parkinsonian syndrome

1 reference

P Irun

5

0 references

Matthew J Barrett

1 reference

ORCID Public Data File 2021

author name string

M J Barrett

1

1 reference

30 July 2017

P Giraldo

2

1 reference

30 July 2017

J L Capablo

3

1 reference

30 July 2017

P Alfonso

4

1 reference

30 July 2017

B Garcia-Rodriguez

6

1 reference

30 July 2017

M Pocovi

7

1 reference

30 July 2017

G M Pastores

8

1 reference

30 July 2017

publication date

12 September 2012

1 reference

Journal of Inherited Metabolic Disease

30 July 2017

published in

1 reference

30 July 2017

volume

36

1 reference

30 July 2017

issue

3

1 reference

30 July 2017

page(s)

575-580

1 reference

Comprehensive research synopsis and systematic meta-analyses in Parkinson's disease genetics: The PDGene database

30 July 2017

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4102607

The enigma of the E326K mutation in acid β-glucocerebrosidase

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4102607

Exploring the link between glucocerebrosidase mutations and parkinsonism

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4102607

Gaucher disease glucocerebrosidase and α-synuclein form a bidirectional pathogenic loop in synucleinopathies

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4102607

Glucocerebrosidase is present in α-synuclein inclusions in Lewy body disorders

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4102607

The risk of Parkinson's disease in type 1 Gaucher disease

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4102607

Multicenter analysis of glucocerebrosidase mutations in Parkinson's disease.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4102607

Mutations for Gaucher disease confer high susceptibility to Parkinson disease

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4102607

Complete screening for glucocerebrosidase mutations in Parkinson disease patients from Portugal

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4102607

Glucocerebrosidase mutations in Chinese subjects from Taiwan with sporadic Parkinson disease

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4102607

Hematologically important mutations: Gaucher disease

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4102607

Parkinsonism among Gaucher disease carriers

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4102607

Gaucher's disease with Parkinson's disease: clinical and pathological aspects

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4102607

Incidence of Parkinson's disease: variation by age, gender, and race/ethnicity

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4102607

Occurrence of Parkinson's syndrome in type I Gaucher disease

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4102607

Comparative study on glucocerebrosidase in spleens from patients with Gaucher disease

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4102607

Differential phenotype in Parkinson's disease patients with severe versus mild GBA mutations

5 July 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-012-9527-5

Neurological manifestations in patients with Gaucher disease and their relatives, it is just a coincidence?

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-012-9527-5

Complete screening for glucocerebrosidase mutations in Parkinson disease patients from Greece

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-012-9527-5

Parkinson's syndrome preceding clinical manifestation of Gaucher's disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-012-9527-5

Detection of 12 new mutations in Gaucher disease Brazilian patients.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-012-9527-5

The diagnosis of Parkinson's disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-012-9527-5

ER retention and degradation as the molecular basis underlying Gaucher disease heterogeneity

21 January 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/22968580

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Genotype-phenotype correlations between GBA mutations and Parkinson disease risk and onset

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/22968580

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Penetrance of Parkinson disease in glucocerebrosidase gene mutation carriers

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/22968580

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1007/S10545-012-9527-5

1 reference

Dimensions Publication ID

30 July 2017

0 references

1 reference

30 July 2017

1 reference