(Q30435626)

20 August 2017

1 reference

title

Genetic susceptibility in Parkinson's disease (English)

1 reference

20 August 2017

1 reference

2

Andrew Singleton

1 reference

20 August 2017

1

Jose Miguel Bras

1 reference

20 August 2017

PMC publication ID

2768897

language of work or name

English

0 references

publication date

20 November 2008

1 reference

Biochimica et Biophysica Acta

20 August 2017

1 reference

20 August 2017

1792

1 reference

20 August 2017

7

1 reference

20 August 2017

597-603

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LRRK2 Gly2385Arg mutation and clinical features in a Chinese population with early-onset Parkinson's disease compared to late-onset patients

20 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2768897

Haplotypes and gene expression implicate the MAPT region for Parkinson disease: the GenePD Study

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2768897

A HapMap harvest of insights into the genetics of common disease

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2768897

Sequencing analysis of OMI/HTRA2 shows previously reported pathogenic mutations in neurologically normal controls

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2768897

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

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2768897

LRRK2 Gly2385Arg variant is a risk factor of Parkinson's disease among Han-Chinese from mainland China

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2768897

Complete screening for glucocerebrosidase mutations in Parkinson disease patients from Portugal

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2768897

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

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2768897

The genetics of frontotemporal dementia

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2768897

Association analysis of MAPT H1 haplotype and subhaplotypes in Parkinson's disease

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2768897

Lrrk2 G2385R is an ancestral risk factor for Parkinson's disease in Asia

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2768897

A common genetic factor for Parkinson disease in ethnic Chinese population in Taiwan

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2768897

The MAPT H1c risk haplotype is associated with increased expression of tau and especially of 4 repeat containing transcripts

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2768897

Haplotype-specific expression of exon 10 at the human MAPT locus

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2768897

Heterozygosity for a Mendelian disorder as a risk factor for complex disease

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2768897

Multiple candidate gene analysis identifies alpha-synuclein as a susceptibility gene for sporadic Parkinson's disease

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2768897

Loss of function mutations in the gene encoding Omi/HtrA2 in Parkinson's disease

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2768897

Multiple regions of alpha-synuclein are associated with Parkinson's disease

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2768897

A common LRRK2 mutation in idiopathic Parkinson's disease

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2768897

Australian data and meta-analysis lend support for alpha-synuclein (NACP-Rep1) as a risk factor for Parkinson's disease

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2768897

Cloning of the gene containing mutations that cause PARK8-linked Parkinson's disease

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2768897

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

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2768897

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

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2768897

Neuroprotective role of the Reaper-related serine protease HtrA2/Omi revealed by targeted deletion in mice

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2768897

Linkage disequilibrium and association of MAPT H1 in Parkinson disease

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2768897

Alzheimer's disease-associated amyloid beta interacts with the human serine protease HtrA2/Omi

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2768897

Tau haplotypes regulate transcription and are associated with Parkinson's disease.

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2768897

Glucocerebrosidase mutations in subjects with parkinsonism

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2768897

The PARK8 locus in autosomal dominant parkinsonism: confirmation of linkage and further delineation of the disease-containing interval

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2768897

alpha-Synuclein locus triplication causes Parkinson's disease

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2768897

Loss of Omi mitochondrial protease activity causes the neuromuscular disorder of mnd2 mutant mice

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2768897

Parkinson's disease is not associated with the combined alpha-synuclein/apolipoprotein E susceptibility genotype

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2768897

Characterization of human HtrA2, a novel serine protease involved in the mammalian cellular stress response

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2768897

Association of missense and 5'-splice-site mutations in tau with the inherited dementia FTDP-17

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2768897

Mutation in the tau gene in familial multiple system tauopathy with presenile dementia

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2768897

Identification of three additional genes contiguous to the glucocerebrosidase locus on chromosome 1q21: implications for Gaucher disease

20 June 2018

2 references

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2768897

20 June 2018

12 December 2020

Occurrence of Parkinson's syndrome in type I Gaucher disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2768897

The LRRK2 Arg1628Pro variant is a risk factor for Parkinson's disease in the Chinese population

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2768897

Multiplealpha-synucleingene polymorphisms are associated with Parkinson’s disease in a Norwegian population

26 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2768897

A survey of genetic human cortical gene expression

26 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2768897

The prevalence of LRRK2 Gly2385Arg variant in Chinese Han population with Parkinson's disease.

26 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2768897

Role of ethnicity on the association of MAPT H1 haplotypes and subhaplotypes in Parkinson's disease

26 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2768897

Genome-wide association. Closing the net on common disease genes

26 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2768897

Leucine-rich repeat kinase 2 G2385R variant is a risk factor for Parkinson disease in Asian population.

26 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2768897

Collaborative Analysis of α-Synuclein Gene Promoter Variability and Parkinson Disease

26 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2768897

Glucocerebrosidase gene mutations and Parkinson disease in the Norwegian population

26 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2768897

LRRK2 G2019S as a cause of Parkinson's disease in Ashkenazi Jews.

26 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2768897

Lrrk2 pathogenic substitutions in Parkinson's disease

26 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2768897

G2019S dardarin substitution is a common cause of Parkinson's disease in a Portuguese cohort

26 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2768897

A frequent LRRK2 gene mutation associated with autosomal dominant Parkinson's disease.

26 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2768897

Dopaminergic dysfunction in unrelated, asymptomatic carriers of a single parkin mutation

26 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2768897

Analysis of the glucocerebrosidase gene in Parkinson's disease

26 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2768897

alpha-Synuclein promoter confers susceptibility to Parkinson's disease.

26 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2768897

Alpha-synuclein in blood and brain from familial Parkinson disease with SNCA locus triplication

26 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2768897

Alpha synuclein promoter and risk of Parkinson's disease: microsatellite and allelic size variability

26 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2768897

Genetic evidence for the involvement of tau in progressive supranuclear palsy

26 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2768897

Association of alpha-synuclein Rep1 polymorphism and Parkinson's disease: influence of Rep1 on age at onset

26 November 2018

1 reference

12 December 2020

A common missense variant in the LRRK2 gene, Gly2385Arg, associated with Parkinson's disease risk in Taiwan

1 reference

12 December 2020

LRRK2 R1628P increases risk of Parkinson's disease: replication evidence

1 reference

12 December 2020

Association of tau haplotype-tagging polymorphisms with Parkinson's disease in diverse ethnic Parkinson's disease cohorts

1 reference

12 December 2020

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

1 reference

12 December 2020

1 reference

12 December 2020

alpha-synuclein gene haplotypes are associated with Parkinson's disease

1 reference

12 December 2020

NACP-REP1 polymorphism is not involved in Parkinson's disease: a case-control study in a population sample from southern Italy

1 reference

12 December 2020

Increased susceptibility to sporadic Parkinson's disease by a certain combined alpha-synuclein/apolipoprotein E genotype

1 reference

12 December 2020

Genetic screening for a single common LRRK2 mutation in familial Parkinson's disease

1 reference

12 December 2020

Glucocerebrosidase recombinant allele: molecular evolution of the glucocerebrosidase gene and pseudogene in primates

1 reference

12 December 2020

LRRK2G2019S as a Cause of Parkinson's Disease in North African Arabs

1 reference

12 December 2020

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

1 reference

12 December 2020

10.1016/J.BBADIS.2008.11.008

Identifiers

DOI

1 reference

20 August 2017

1 reference

PMC publication ID

2768897

20 August 2017

PubMed publication ID

19063963

1 reference

PMC publication ID

2768897