(Q38116806)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23798000%20AND%20SRC:MED&resulttype=core&format=json

3 March 2020

title

Recent advances in Parkinson’s disease genetics (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23798000%20AND%20SRC:MED&resulttype=core&format=json

3 March 2020

1 reference

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23798000%20AND%20SRC:MED&resulttype=core&format=json

3 March 2020

Steven Lubbe

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23798000%20AND%20SRC:MED&resulttype=core&format=json

3 March 2020

publication date

1 February 2014

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23798000%20AND%20SRC:MED&resulttype=core&format=json

3 March 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23798000%20AND%20SRC:MED&resulttype=core&format=json

3 March 2020

volume

261

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23798000%20AND%20SRC:MED&resulttype=core&format=json

3 March 2020

issue

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23798000%20AND%20SRC:MED&resulttype=core&format=json

3 March 2020

page(s)

259-266

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23798000%20AND%20SRC:MED&resulttype=core&format=json

3 March 2020

1 reference

https://api.crossref.org/works/10.1007%2FS00415-013-7003-2

100 years of Lewy pathology

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-013-7003-2

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-013-7003-2

AlaSOPro mutation in the gene encoding α-synuclein in Parkinson's disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-013-7003-2

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-013-7003-2

alpha-Synuclein locus triplication causes Parkinson's disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-013-7003-2

Acceleration of oligomerization, not fibrillization, is a shared property of both alpha-synuclein mutations linked to early-onset Parkinson's disease: implications for pathogenesis and therapy

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-013-7003-2

Alpha-synuclein p.H50Q, a novel pathogenic mutation for Parkinson's disease.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-013-7003-2

A novel α-synuclein missense mutation in Parkinson disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-013-7003-2

α-Synucleinopathy associated with G51D SNCA mutation: a link between Parkinson's disease and multiple system atrophy?

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-013-7003-2

G51D α-synuclein mutation causes a novel parkinsonian-pyramidal syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-013-7003-2

Phenotype, genotype, and worldwide genetic penetrance of LRRK2-associated Parkinson's disease: a case-control study

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-013-7003-2

The leucine rich repeat kinase 2 (LRRK2) G2019S substitution mutation. Association with Parkinson disease, malignant melanoma and prevalence in ethnic groups in Israel.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-013-7003-2

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-013-7003-2

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-013-7003-2

Mutations in LRRK2 cause autosomal-dominant parkinsonism with pleomorphic pathology

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-013-7003-2

The Gly2019Ser mutation in LRRK2 is not fully penetrant in familial Parkinson's disease: the GenePD study

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-013-7003-2

The role of leucine-rich repeat kinase 2 (LRRK2) in Parkinson's disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-013-7003-2

LRRK2 and human disease: a complicated question or a question of complexes?

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-013-7003-2

The function of ROCO proteins in health and disease.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-013-7003-2

Cancer and neurodegeneration: between the devil and the deep blue sea.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-013-7003-2

Parkinson's disease and cancer risk: a systematic review and meta-analysis

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-013-7003-2

Genetic determinants at the interface of cancer and neurodegenerative disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-013-7003-2

LRRK2 G2019S mutations are associated with an increased cancer risk in Parkinson disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-013-7003-2

VPS35 mutations in Parkinson disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-013-7003-2

A multi-centre clinico-genetic analysis of the VPS35 gene in Parkinson disease indicates reduced penetrance for disease-associated variants

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-013-7003-2

Screening for VPS35 mutations in Parkinson's disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-013-7003-2

VPS35 mutation in Japanese patients with typical Parkinson's disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-013-7003-2

Translation initiator EIF4G1 mutations in familial Parkinson disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-013-7003-2

Study of the genetic variability in a Parkinson's Disease gene: EIF4G1

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-013-7003-2

Whole exome sequencing of rare variants in EIF4G1 and VPS35 in Parkinson disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-013-7003-2

EIF4G1 in familial Parkinson's disease: pathogenic mutations or rare benign variants?

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-013-7003-2

Variants in eukaryotic translation initiation factor 4G1 in sporadic Parkinson's disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-013-7003-2

Mutations in the parkin gene cause autosomal recessive juvenile parkinsonism

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-013-7003-2

Systematic review and UK-based study of PARK2 (parkin), PINK1, PARK7 (DJ-1) and LRRK2 in early-onset Parkinson's disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-013-7003-2

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-013-7003-2

Familial Parkinson disease gene product, parkin, is a ubiquitin-protein ligase

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-013-7003-2

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-013-7003-2

Mitochondria: The Next (Neurode)Generation

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-013-7003-2

Parkin enhances mitochondrial biogenesis in proliferating cells

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-013-7003-2

PARIS (ZNF746) repression of PGC-1α contributes to neurodegeneration in Parkinson's disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-013-7003-2

Drosophila pink1 is required for mitochondrial function and interacts genetically with parkin

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-013-7003-2

Mitochondrial dysfunction in Drosophila PINK1 mutants is complemented by parkin

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-013-7003-2

PINK1-associated Parkinson's disease is caused by neuronal vulnerability to calcium-induced cell death

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-013-7003-2

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-013-7003-2

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-013-7003-2

Lewy body pathology in a patient with a homozygous parkin deletion

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-013-7003-2

Parkin and PINK1 parkinsonism may represent nigral mitochondrial cytopathies distinct from Lewy body Parkinson's disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-013-7003-2

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-013-7003-2

Deficiency of ATP13A2 leads to lysosomal dysfunction, α-synuclein accumulation, and neurotoxicity

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-013-7003-2

Early-onset L-dopa-responsive parkinsonism with pyramidal signs due to ATP13A2, PLA2G6, FBXO7 and spatacsin mutations

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-013-7003-2

Characterization of PLA2G6 as a locus for dystonia-parkinsonism

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-013-7003-2

The PLA2G6 gene in early‐onset Parkinson's disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-013-7003-2

FBXO7 mutations cause autosomal recessive, early-onset parkinsonian-pyramidal syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-013-7003-2

Cooperative genome-wide analysis shows increased homozygosity in early onset Parkinson's disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-013-7003-2

Genome-wide association study reveals genetic risk underlying Parkinson's disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-013-7003-2

Genome-wide association study identifies common variants at four loci as genetic risk factors for Parkinson's disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-013-7003-2

Meta-analysis of Parkinson's disease: identification of a novel locus, RIT2.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-013-7003-2

Genomewide association study for susceptibility genes contributing to familial Parkinson disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-013-7003-2

Genome-wide association study confirms SNPs in SNCA and the MAPT region as common risk factors for Parkinson disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-013-7003-2

Common genetic variation in the HLA region is associated with late-onset sporadic Parkinson's disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-013-7003-2

Genome-wide association study confirms BST1 and suggests a locus on 12q24 as the risk loci for Parkinson's disease in the European population

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-013-7003-2

Dissection of the genetics of Parkinson's disease identifies an additional association 5' of SNCA and multiple associated haplotypes at 17q21.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-013-7003-2

Imputation of sequence variants for identification of genetic risks for Parkinson's disease: a meta-analysis of genome-wide association studies

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-013-7003-2

A two-stage meta-analysis identifies several new loci for Parkinson's disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-013-7003-2

Web-based genome-wide association study identifies two novel loci and a substantial genetic component for Parkinson's disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-013-7003-2

Genome-wide association study identifies candidate genes for Parkinson's disease in an Ashkenazi Jewish population

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-013-7003-2

Supportive evidence for 11 loci from genome-wide association studies in Parkinson's disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-013-7003-2

Large-scale replication and heterogeneity in Parkinson disease genetic loci

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-013-7003-2

Genomewide association studies and human disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-013-7003-2

Identification and analysis of functional elements in 1% of the human genome by the ENCODE pilot project

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-013-7003-2

Using genome-wide complex trait analysis to quantify 'missing heritability' in Parkinson's disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-013-7003-2

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-013-7003-2

Occurrence of Parkinson's syndrome in type I Gaucher disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-013-7003-2

Glucocerebrosidase mutations in clinical and pathologically proven Parkinson's disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-013-7003-2

Multicenter analysis of glucocerebrosidase mutations in Parkinson's disease.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-013-7003-2

Glucocerebrosidase mutations influence the natural history of Parkinson's disease in a community-based incident cohort.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-013-7003-2

A clinical and family history study of Parkinson's disease in heterozygous glucocerebrosidase mutation carriers

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-013-7003-2

Glucocerebrosidase deficiency in substantia nigra of parkinson disease brains

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-013-7003-2

A generalizable hypothesis for the genetic architecture of disease: pleomorphic risk loci

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-013-7003-2

Mitophagy and Parkinson's disease: the PINK1-parkin link.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-013-7003-2

The PINK1/Parkin pathway: a mitochondrial quality control system?

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-013-7003-2

PINK1 cleavage at position A103 by the mitochondrial protease PARL.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-013-7003-2

Rhomboid protease PARL mediates the mitochondrial membrane potential loss-induced cleavage of PGAM5

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-013-7003-2

Parkin is recruited selectively to impaired mitochondria and promotes their autophagy

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-013-7003-2

21 January 2018

Mechanisms of mitophagy

1 reference

https://api.crossref.org/works/10.1007%2FS00415-013-7003-2

Mitofusin 1 and mitofusin 2 are ubiquitinated in a PINK1/parkin-dependent manner upon induction of mitophagy

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-013-7003-2

Drosophila parkin requires PINK1 for mitochondrial translocation and ubiquitinates mitofusin

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-013-7003-2

Mitochondrial quality control mediated by PINK1 and Parkin: links to parkinsonism.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-013-7003-2

Parkinson's disease-associated kinase PINK1 regulates Miro protein level and axonal transport of mitochondria

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-013-7003-2

PINK1 and Parkin target Miro for phosphorylation and degradation to arrest mitochondrial motility

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-013-7003-2

Voltage-dependent anion channels (VDACs) recruit Parkin to defective mitochondria to promote mitochondrial autophagy

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-013-7003-2

PINK1/Parkin-mediated mitophagy is dependent on VDAC1 and p62/SQSTM1

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-013-7003-2

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-013-7003-2

A pathway-based analysis provides additional support for an immune-related genetic susceptibility to Parkinson's disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-013-7003-2

Association of the human leucocyte antigen region with susceptibility to Parkinson's disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-013-7003-2

Glial reactions in Parkinson's disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-013-7003-2

Tau acts as an independent genetic risk factor in pathologically proven PD.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-013-7003-2

Distinctive neuropathology revealed by α-synuclein antibodies in hereditary parkinsonism and dementia linked to chromosome 4p

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-013-7003-2

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-013-7003-2

Identification of VPS35 mutations replicated in French families with Parkinson disease

21 January 2018

1 reference

12 December 2020

Gaucher disease and parkinsonism: a phenotypic and genotypic characterization

1 reference

12 December 2020

Parkin disease: a clinicopathologic entity?

1 reference

12 December 2020

F-box only protein 7 gene in parkinsonian-pyramidal disease

1 reference

12 December 2020

Non-replication of association for six polymorphisms from meta-analysis of genome-wide association studies of Parkinson's disease: large-scale collaborative study

1 reference

12 December 2020