(Q38118169)

29 August 2017

The association between ß-glucocerebrosidase mutations and parkinsonism (English)

1 reference

29 August 2017

1 reference

parkinsonian syndrome

1 reference

inferred from title

author

Rachel Saunders-Pullman

series ordinal

2

object named as

Rachel Saunders-Pullman

1 reference

29 August 2017

Matthew Swan

1

1 reference

29 August 2017

1 August 2013

1 reference

Current Neurology and Neuroscience Reports

29 August 2017

1 reference

29 August 2017

13

1 reference

29 August 2017

8

1 reference

29 August 2017

368

1 reference

https://scigraph.springernature.com/pub.10.1007/s11910-013-0368-x

29 August 2017

0 references

cites work

Glucocerebrosidase in the pathogenesis and treatment of Parkinson disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3816495

Augmenting CNS glucocerebrosidase activity as a therapeutic strategy for parkinsonism and other Gaucher-related synucleinopathies

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3816495

Transcranial sonography and functional imaging in glucocerebrosidase mutation Parkinson disease

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3816495

Glucocerebrosidase deficiency in substantia nigra of parkinson disease brains

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3816495

Greater risk of parkinsonism associated with non-N370S GBA1 mutations

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3816495

The neurobiology of glucocerebrosidase-associated parkinsonism: a positron emission tomography study of dopamine synthesis and regional cerebral blood flow

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3816495

Genetics of Parkinson disease and other movement disorders

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3816495

Cognitive performance of GBA mutation carriers with early-onset PD: the CORE-PD study.

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3816495

Aggregation of α-synuclein in brain samples from subjects with glucocerebrosidase mutations

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3816495

Exploring the link between glucocerebrosidase mutations and parkinsonism

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3816495

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

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3816495

Alpha-synuclein interacts with Glucocerebrosidase providing a molecular link between Parkinson and Gaucher diseases

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3816495

Mutations in the glucocerebrosidase gene confer a risk for Parkinson disease in North Africa

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3816495

The incidence of Parkinsonism in patients with type 1 Gaucher disease: data from the ICGG Gaucher Registry

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3816495

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

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3816495

Gaucher disease ascertained through a Parkinson's center: imaging and clinical characterization

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3816495

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

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3816495

Multicenter analysis of glucocerebrosidase mutations in Parkinson's disease.

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3816495

Transcranial sonography findings related to non-motor features of Parkinson's disease

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3816495

Parkinsonism in Gaucher's disease type 1: ten new cases and a review of the literature

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3816495

Association of glucocerebrosidase mutations with dementia with lewy bodies

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3816495

Glucocerebrosidase mutations in clinical and pathologically proven Parkinson's disease

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3816495

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

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3816495

The spectrum of parkinsonian manifestations associated with glucocerebrosidase mutations

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3816495

Glucocerebrosidase gene mutations: a risk factor for Lewy body disorders

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3816495

Complete screening for glucocerebrosidase mutations in Parkinson disease patients from Portugal

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3816495

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

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3816495

Glucocerebrosidase gene mutation is a risk factor for early onset of Parkinson disease among Taiwanese

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3816495

Parkinsonism among Gaucher disease carriers

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3816495

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

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3816495

Gaucher disease: complexity in a "simple" disorder

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3816495

Glucocerebrosidase mutations in subjects with parkinsonism

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3816495

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

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3816495

Acid β-glucosidase mutants linked to Gaucher disease, Parkinson disease, and Lewy body dementia alter α-synuclein processing.

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3816495

Interaction between parkin and mutant glucocerebrosidase variants: a possible link between Parkinson disease and Gaucher disease

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3816495

Occurrence of Parkinson's syndrome in type I Gaucher disease

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3816495

Large-scale screening of the Gaucher's disease-related glucocerebrosidase gene in Europeans with 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=3816495

Self-report of cognitive impairment and mini-mental state examination performance in PRKN, LRRK2, and GBA carriers with early onset Parkinson's disease

23 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3816495

Association between GBA L444P mutation and sporadic Parkinson's disease from Mainland China.

23 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3816495

Dopaminergic neuronal dysfunction associated with parkinsonism in both a Gaucher disease patient and a carrier

23 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3816495

Transcranial sonography in patients with Parkinson's disease with glucocerebrosidase mutations

23 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3816495

GBA-associated PD. Neurodegeneration, altered membrane metabolism, and lack of energy failure.

31 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3816495

Association between ATM polymorphisms and cancer risk: a meta-analysis

31 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3816495

Cerebrospinal fluid fatty acids in glucocerebrosidase-associated Parkinson's disease.

31 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3816495

Glucocerebrosidase mutations in a French-Canadian Parkinson's disease cohort.

31 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3816495

GBA-associated PD presents with nonmotor characteristics.

31 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3816495

Mutational analysis of GIGYF2, ATP13A2 and GBA genes in Brazilian patients with early-onset Parkinson's disease.

31 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3816495

Functional brain imaging in glucocerebrosidase mutation carriers with and without Parkinsonism

31 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3816495

Association of the glucocerebrosidase N370S allele with Parkinson's disease in two separate Chinese Han populations of mainland China.

31 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3816495

Glucocerebrosidase gene L444P mutation is a risk factor for Parkinson's disease in Chinese population

31 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3816495

LRRK2 and GBA mutations differentially affect the initial presentation of Parkinson disease.

31 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3816495

Complete screening for glucocerebrosidase mutations in Parkinson disease patients from Greece

31 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3816495

The need for appropriate genotyping strategies for glucocerebrosidase mutations in cohorts with Parkinson disease

31 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3816495

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

31 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3816495

Glucocerebrosidase mutations and risk of Parkinson disease in Chinese patients

31 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3816495

Effective treatment of an elderly patient with Gaucher's disease and Parkinsonism: a case report of 24 months' oral substrate reduction therapy with miglustat.

31 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3816495

Glucocerebrosidase mutations are an important risk factor for Lewy body disorders.

31 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3816495

Mutations in the glucocerebrosidase gene and Parkinson disease: phenotype-genotype correlation.

31 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3816495

Neuropathology provides clues to the pathophysiology of Gaucher disease

31 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3816495

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

31 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3816495

Association of mutations in the glucocerebrosidase gene with Parkinson disease in a Korean population

31 August 2018

1 reference

Crossref

https://api.crossref.org/works/10.1007%2FS11910-013-0368-X

β-Glucocerebrosidase gene mutations in two cohorts of Greek patients with sporadic Parkinson's disease

21 January 2018

1 reference

12 December 2020

Contribution of glucocerebrosidase mutation in a large cohort of sporadic Parkinson's disease in Taiwan

1 reference

12 December 2020

Glucocerebrosidase gene mutations are associated with Parkinson's disease in Russia

1 reference

12 December 2020

Penetrance of Parkinson disease in glucocerebrosidase gene mutation carriers

1 reference

12 December 2020

Glucocerebrosidase mutations confer a greater risk of dementia during Parkinson's disease course

1 reference

12 December 2020

Glucocerebrosidase N370S and L444P mutations as risk factors for Parkinson's disease in Brazilian patients

1 reference

12 December 2020

Penetrance of PD in Glucocerebrosidase Gene Mutation Carriers

1 reference

12 December 2020

Gaucher disease and parkinsonism: a phenotypic and genotypic characterization

1 reference

12 December 2020

Lysosomal hydrolases in cerebrospinal fluid from subjects with Parkinson's disease

1 reference

12 December 2020

Treating patients with Gaucher disease and parkinsonism: misrepresentation in a title

1 reference

12 December 2020

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

1 reference

12 December 2020

A patient with parkinsonism related to Gaucher's disease type I successfully treated by unilateral pallidotomy - a 3-year follow-up

1 reference

12 December 2020

Glucocerebrosidase mutations do not cause increased Lewy body pathology in Parkinson's disease

1 reference

12 December 2020

10.1007/S11910-013-0368-X

Identifiers

DOI

1 reference

PMC publication ID

3816495

Dimensions Publication ID

29 August 2017

0 references

1 reference

PMC publication ID

3816495

29 August 2017

PubMed publication ID

23812893

1 reference

PMC publication ID

3816495