(Q30440991)

17 August 2017

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

1 reference

17 August 2017

2

Andrew B Singleton

1 reference

17 August 2017

Javier Simón-Sánchez

1

1 reference

PMC publication ID

2574854

17 August 2017

language of work or name

1 reference

25 March 2008

1 reference

17 August 2017

Human Molecular Genetics

1 reference

17 August 2017

17

1 reference

17 August 2017

13

1 reference

17 August 2017

1988-1993

1 reference

PLINK: a tool set for whole-genome association and population-based linkage analyses

17 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2574854

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=2574854

Mutations in LRRK2 cause autosomal-dominant parkinsonism with pleomorphic pathology

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2574854

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=2574854

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=2574854

Hereditary early-onset Parkinson's disease caused by mutations in PINK1

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2574854

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=2574854

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=2574854

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=2574854

Mutations in the DJ-1 gene associated with autosomal recessive early-onset 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=2574854

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=2574854

Mutations in the parkin gene cause autosomal recessive juvenile 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=2574854

A susceptibility locus for Parkinson's disease maps to chromosome 2p13.

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2574854

Mutation in the alpha-synuclein gene identified in families 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=2574854

Anticipation in familial Parkinson's disease: a reanalysis of 13 United Kingdom kindreds

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2574854

Clinical genetic analysis of Parkinson's disease in the Contursi kindred

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2574854

Mapping of a gene for Parkinson's disease to chromosome 4q21-q23

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2574854

Familial autosomal dominant dopa responsive Parkinson's disease in three living generations showing extreme anticipation and childhood onset

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2574854

A clinical and genetic study of familial cases of 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=2574854

Genetic anticipation 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=2574854

Cloning of a gene bearing missense mutations in early-onset familial Alzheimer'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=2574854

Power and sample size calculations. A review and computer program

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2574854

Genes influencing Parkinson disease onset: replication of PARK3 and identification of novel loci

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2574854

Refinement of the PARK3 locus on chromosome 2p13 and the analysis of 14 candidate 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=2574854

Autosomal dominant Lewy body parkinsonism in a four-generation family

26 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2574854

Western Nebraska family (family D) with autosomal dominant parkinsonism

26 November 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/18364387

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1093/HMG/DDN096

1 reference

17 August 2017

1 reference

PMC publication ID

2574854

17 August 2017

PubMed publication ID

18364387

1 reference

PMC publication ID

2574854