(Q26827825)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22315721%20AND%20SRC:MED&resulttype=core&format=json

22 January 2020

title

Genetics of Parkinson's disease (English)

2 references

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22315721%20AND%20SRC:MED&resulttype=core&format=json

22 January 2020

1 reference

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22315721%20AND%20SRC:MED&resulttype=core&format=json

22 January 2020

1

Christine Klein

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22315721%20AND%20SRC:MED&resulttype=core&format=json

22 January 2020

language of work or name

1 reference

1 January 2012

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22315721%20AND%20SRC:MED&resulttype=core&format=json

Cold Spring Harbor Perspectives in Medicine

22 January 2020

published in

2 references

Crossref

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22 January 2020

volume

2

2 references

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22 January 2020

issue

1

2 references

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22315721%20AND%20SRC:MED&resulttype=core&format=json

22 January 2020

page(s)

a008888

2 references

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Genetics of Parkinson's disease

22 January 2020

different from

0 references

cites work

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

1 reference

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A map of human genome variation from population-scale sequencing

7 April 2017

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Genetic etiology of Parkinson disease associated with mutations in the SNCA, PARK2, PINK1, PARK7, and LRRK2 genes: a mutation update

7 April 2017

1 reference

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Multicenter analysis of glucocerebrosidase mutations in Parkinson's disease.

7 April 2017

1 reference

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The familial Parkinsonism gene LRRK2 regulates neurite process morphology

7 April 2017

1 reference

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Interaction of DJ-1 with Daxx inhibits apoptosis signal-regulating kinase 1 activity and cell death

7 April 2017

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Mechanisms of mitophagy

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alpha-Synuclein locus triplication causes Parkinson's disease

7 April 2017

1 reference

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Mutation in the alpha-synuclein gene identified in families with Parkinson's disease

7 April 2017

1 reference

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Hereditary parkinsonism with dementia is caused by mutations in ATP13A2, encoding a lysosomal type 5 P-type ATPase

7 April 2017

1 reference

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Translation initiator EIF4G1 mutations in familial Parkinson disease

7 April 2017

1 reference

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Comparison of kindreds with parkinsonism and alpha-synuclein genomic multiplications

7 April 2017

1 reference

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Glucocerebrosidase mutations in subjects with parkinsonism

7 April 2017

1 reference

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

7 April 2017

1 reference

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The new mutation, E46K, of alpha-synuclein causes Parkinson and Lewy body dementia

7 April 2017

1 reference

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Ala30Pro mutation in the gene encoding alpha-synuclein in Parkinson's disease

7 April 2017

1 reference

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Alpha-synuclein locus duplication as a cause of familial 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=3253033

Impaired degradation of mutant alpha-synuclein by chaperone-mediated autophagy

7 April 2017

1 reference

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Association between early-onset Parkinson's disease and mutations in the parkin gene

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3253033

The curious case of phenocopies in families with genetic Parkinson's disease

7 April 2017

1 reference

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A Swedish family with de novo alpha-synuclein A53T mutation: evidence for early cortical dysfunction

28 September 2017

1 reference

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Familial Parkinsonism and early onset Parkinson's disease in a Brazilian movement disorders clinic: phenotypic characterization and frequency of SNCA, PRKN, PINK1, and LRRK2 mutations

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3253033

Molecular basis for the structural instability of human DJ-1 induced by the L166P mutation associated 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=3253033

Genomic investigation of alpha-synuclein multiplication and parkinsonism

28 September 2017

1 reference

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Structural effects of Parkinson's disease linked DJ-1 mutations.

28 September 2017

1 reference

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

28 September 2017

1 reference

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Lrrk2 R1441C parkinsonism is clinically similar to sporadic Parkinson disease.

28 September 2017

1 reference

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Impact of recent genetic findings in Parkinson's disease

28 September 2017

1 reference

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Mutations in DJ-1 are rare in familial Parkinson disease

28 September 2017

1 reference

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

28 September 2017

1 reference

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LRRK2 G2019S in families with Parkinson disease who originated from Europe and the Middle East: evidence of two distinct founding events beginning two millennia ago.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3253033

The genetics of Parkinson disease: Implications for neurological care

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3253033

Biochemical and pathological characterization of Lrrk2.

28 September 2017

1 reference

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Genetics of Parkinson's disease: LRRK2 on the rise

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3253033

Clinicogenetic study of PINK1 mutations in autosomal recessive early-onset parkinsonism

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3253033

Analysis of the PINK1 gene in a large cohort of cases with 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=3253033

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=3253033

PINK1 (PARK6) associated Parkinson disease in Ireland

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3253033

PINK1 mutations are associated with sporadic early-onset parkinsonism

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3253033

The Parkinson's disease protein DJ-1 is neuroprotective due to cysteine-sulfinic acid-driven mitochondrial localization

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3253033

A new complex homozygous large rearrangement of the PINK1 gene in a Sudanese family with early onset 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=3253033

Reduced anti-oxidative stress activities of DJ-1 mutants found in Parkinson's disease patients

31 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3253033

Clinical and pathological features of a Parkinsonian syndrome in a family with an Ala53Thr alpha-synuclein mutation

31 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3253033

A hydrophobic stretch of 12 amino acid residues in the middle of alpha-synuclein is essential for filament assembly.

31 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3253033

Progression of subtle motor signs in PINK1 mutation carriers with mild dopaminergic deficit

31 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3253033

Alpha-synuclein-glucocerebrosidase interactions in pharmacological Gaucher models: a biological link between Gaucher disease and parkinsonism.

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3253033

EFNS guidelines on the molecular diagnosis of neurogenetic disorders: general issues, Huntington's disease, Parkinson's disease and dystonias

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3253033

Alpha-synuclein gene rearrangements in dominantly inherited parkinsonism: frequency, phenotype, and mechanisms

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3253033

LRRK2 G2019S and R1441G mutations associated with Parkinson's disease are common in the Basque Country, but relative prevalence is determined by ethnicity.

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3253033

Prominent psychiatric symptoms and glucose hypometabolism in a family with a SNCA duplication

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3253033

Analysis of PARK genes in a Korean cohort of early-onset Parkinson disease.

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3253033

Patients homozygous and heterozygous for SNCA duplication in a family with parkinsonism and dementia.

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3253033

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3253033

alpha-Synuclein gene duplication is present in sporadic Parkinson disease.

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3253033

The Ala53Thr mutation in the α-synuclein gene in a Korean family with Parkinson disease

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3253033

Phenotypic variation in a large Swedish pedigree due to SNCA duplication and triplication

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3253033

Frequency of LRRK2 mutations in early- and late-onset Parkinson disease

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3253033

PINK1 homozygous W437X mutation in a patient with apparent dominant transmission of parkinsonism

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3253033

Clinicogenetic study of mutations inLRRK2 exon 41 in Parkinson's disease patients from 18 countries

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3253033

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

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3253033

Clinical heterogeneity of alpha-synuclein gene duplication in Parkinson's disease.

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3253033

Early-onset parkinsonism associated with PINK1 mutations: frequency, genotypes, and phenotypes

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3253033

PINK1, Parkin, and DJ-1 mutations in Italian patients with early-onset parkinsonism

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3253033

Alpha-synuclein phosphorylation controls neurotoxicity and inclusion formation in a Drosophila model of Parkinson disease

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3253033

The DJ-1L166P mutant protein associated with early onset Parkinson's disease is unstable and forms higher-order protein complexes

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3253033

Genetic analysis of families with Parkinson disease that carry the Ala53Thr mutation in the gene encoding alpha-synuclein

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3253033

Low frequency of alpha-synuclein mutations in familial Parkinson's disease

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3253033

Familial Mutants of α-Synuclein with Increased Neurotoxicity Have a Destabilized Conformation

28 November 2018

1 reference

12 December 2020

Re: Alpha-synuclein gene duplication is present in sporadic Parkinson disease

1 reference

12 December 2020

1 reference

12 December 2020

Causal relation between alpha-synuclein gene duplication and familial Parkinson's disease

1 reference

12 December 2020

Parkinson's disease due to the R1441G mutation in Dardarin: a founder effect in the Basques

1 reference

12 December 2020

Whole gene deletion and splicing mutations expand the PINK1 genotypic spectrum

1 reference

12 December 2020

Phenotypic spectrum of PINK1-associated parkinsonism in 15 mutation carriers from 1 family

1 reference

12 December 2020

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

1 reference

12 December 2020

Increased incidence of Parkinson disease among relatives of patients with Gaucher disease

1 reference

12 December 2020

Clinical Spectrum of Homozygous and Heterozygous PINK1 Mutations in a Large German Family With Parkinson Disease

1 reference

12 December 2020

1 reference

12 December 2020

Attitudes of young patients with Parkinson's disease towards possible presymptomatic and prenatal genetic testing

1 reference

12 December 2020

1 reference

12 December 2020

1 reference

12 December 2020

1 reference

12 December 2020

The glucocerebrosidase gene and Parkinson's disease in Ashkenazi Jews

1 reference

12 December 2020

Parkin disease in a Brazilian kindred: Manifesting heterozygotes and clinical follow-up over 10 years

1 reference

12 December 2020

10.1101/CSHPERSPECT.A008888

Identifiers

DOI

2 references

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22315721%20AND%20SRC:MED&resulttype=core&format=json

22 January 2020

1 reference

2 references

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22315721%20AND%20SRC:MED&resulttype=core&format=json

22 January 2020

PubMed publication ID

22315721

2 references

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22315721%20AND%20SRC:MED&resulttype=core&format=json