(Q24656668)

15

0 references

Robin Lachmann

Robin H Lachmann

6

0 references

Nicholas W. Wood

Nicholas W Wood

17

0 references

Andrew John Lees

13

Andrew Lees

0 references

John Anthony Hardy

14

John Hardy

0 references

Rita Guerreiro

9

Rita Guerreiro

0 references

Andrew Singleton

12

Andrew Singleton

0 references

S.S. O'Sullivan

4

Sean S O'Sullivan

0 references

Reema Paudel

10

Reema Paudel

0 references

Laura Parkkinen

5

Laura Parkkinen

0 references

author name string

Juliane Neumann

1

0 references

Jose Bras

2

0 references

Emma Deas

3

0 references

Abi Li

7

0 references

Badmavady Segarane

11

0 references

Tamas Revesz

High frequency of the Gaucher disease mutation at nucleotide 1226 among Ashkenazi Jews

16

0 references

language of work or name

English

0 references

publication date

July 2009

0 references

published in

Brain

0 references

volume

132

0 references

issue

Pt 7

0 references

page(s)

1783-94

0 references

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2702833

Staging of brain pathology related to sporadic Parkinson's disease

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2702833

A common LRRK2 mutation in idiopathic Parkinson's disease

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2702833

Glucocerebrosidase mutations in subjects with parkinsonism

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2702833

Glucocerebrosidase gene mutations in patients with type 2 Gaucher disease

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2702833

Diagnosis and management of dementia with Lewy bodies: third report of the DLB Consortium

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2702833

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

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2702833

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

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2702833

Glucocerebrosidase gene mutations: a risk factor for Lewy body disorders

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2702833

Complete screening for glucocerebrosidase mutations in Parkinson disease patients from Portugal

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2702833

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

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2702833

Glucocerebrosidase mutations in Chinese subjects from Taiwan with sporadic Parkinson disease

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2702833

Visual hallucinations in the diagnosis of idiopathic Parkinson's disease: a retrospective autopsy study

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2702833

A systematic review of prevalence studies of dementia in Parkinson's disease

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2702833

Parkinsonism among Gaucher disease carriers

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2702833

Mutations in the glucocerebrosidase gene and Parkinson's disease in Ashkenazi Jews

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2702833

Gaucher disease: complexity in a "simple" disorder

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2702833

Are men at greater risk for Parkinson's disease than women?

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2702833

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

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2702833

Visual hallucinations in Lewy body disease relate to Lewy bodies in the temporal lobe

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2702833

Gaucher disease: gene frequencies and genotype/phenotype correlations

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2702833

Gaucher disease: gene frequencies in the Ashkenazi Jewish population

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2702833

The human glucocerebrosidase gene and pseudogene: structure and evolution

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2702833

Complex alleles of the acid beta-glucosidase gene in Gaucher disease

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2702833

Occurrence of Parkinson's syndrome in type I Gaucher disease

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2702833

Wild type alpha-synuclein is degraded by chaperone-mediated autophagy and macroautophagy in neuronal cells

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2702833

Impaired trafficking of mutants of lysosomal glucocerebrosidase in Gaucher's disease.

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2702833

Pilot association study of the beta-glucocerebrosidase N370S allele and Parkinson's disease in subjects of Jewish ethnicity

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2702833

Gaucher's disease: clinical features and natural history

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2702833

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

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2702833

Identification of six new Gaucher disease mutations

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2702833

The role of pathogenic DJ-1 mutations in Parkinson's disease.

30 May 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWP044

Glucocerebrosidase gene mutations are associated with Parkinson's disease in southern Italy.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWP044

Glucocerebrosidase mutations are an important risk factor for Lewy body disorders

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWP044

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWP044

Analysis of the glucocerebrosidase gene in Parkinson's disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWP044

Gaucher disease with parkinsonian manifestations: does glucocerebrosidase deficiency contribute to a vulnerability to parkinsonism?

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWP044

Glucocerebrosidase gene mutations and Parkinson disease in the Norwegian population

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWP044

Neuropathology provides clues to the pathophysiology of Gaucher disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWP044

A heterozygous effect for PINK1 mutations in Parkinson's disease?

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWP044

Twin pairs showing discordance of phenotype in adult Gaucher's disease

21 January 2018

1 reference

12 December 2020

The glucocerebrosidase gene and Parkinson's disease in Ashkenazi Jews

1 reference

12 December 2020

Glucocerebrosidase mutations are also found in subjects with early-onset parkinsonism from Venezuela

1 reference

12 December 2020

Neurological evaluation of patients with Gaucher disease diagnosed as type 1

1 reference

12 December 2020

Association between Parkinson's disease and glucocerebrosidase mutations in Brazil

1 reference

12 December 2020

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

1 reference

12 December 2020

Identifiers

DOI

10.1093/BRAIN/AWP044

1 reference

1 reference

1 reference

PubMed publication ID

19286695

1 reference