(Q50312477)

English

PARK2 copy number aberrations in two children presenting with autism spectrum disorder: further support of an association and possible evidence for a new microdeletion/microduplication syndrome.

scientific article published on 25 February 2011

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scholarly article

1 reference

Europe PubMed Central

PubMed publication ID

2 March 2018

http://europepmc.org/abstract/MED/21360662

PARK2 copy number aberrations in two children presenting with autism spectrum disorder: further support of an association and possible evidence for a new microdeletion/microduplication syndrome. (English)

1 reference

Europe PubMed Central

PubMed publication ID

2 March 2018

http://europepmc.org/abstract/MED/21360662

autism spectrum disorder

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author name string

Angela Scheuerle

1

1 reference

Europe PubMed Central

PubMed publication ID

2 March 2018

http://europepmc.org/abstract/MED/21360662

Kathleen Wilson

2

1 reference

Europe PubMed Central

PubMed publication ID

2 March 2018

http://europepmc.org/abstract/MED/21360662

publication date

25 February 2011

1 reference

Europe PubMed Central

PubMed publication ID

2 March 2018

http://europepmc.org/abstract/MED/21360662

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics

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Europe PubMed Central

PubMed publication ID

2 March 2018

http://europepmc.org/abstract/MED/21360662

156B

1 reference

Europe PubMed Central

PubMed publication ID

2 March 2018

http://europepmc.org/abstract/MED/21360662

4

1 reference

Europe PubMed Central

PubMed publication ID

2 March 2018

http://europepmc.org/abstract/MED/21360662

413-420

1 reference

Europe PubMed Central

PubMed publication ID

2 March 2018

http://europepmc.org/abstract/MED/21360662

The genomic structure and promoter region of the human parkin gene

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.31176

21 January 2018

Haploinsufficiency of the gene Quaking (QKI) is associated with the 6q terminal deletion syndrome.

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.31176

21 January 2018

Copy-number variations associated with neuropsychiatric conditions

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.31176

21 January 2018

Transcriptional repression of p53 by parkin and impairment by mutations associated with autosomal recessive juvenile Parkinson's disease.

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.31176

21 January 2018

Mitochondrial dysfunction in autism

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.31176

21 January 2018

Autism genome-wide copy number variation reveals ubiquitin and neuronal genes

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.31176

21 January 2018

An unfolded putative transmembrane polypeptide, which can lead to endoplasmic reticulum stress, is a substrate of Parkin

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.31176

21 January 2018

CHIP is associated with Parkin, a gene responsible for familial Parkinson's disease, and enhances its ubiquitin ligase activity

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.31176

21 January 2018

Parkin protects human dopaminergic neuroblastoma cells against dopamine-induced apoptosis

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.31176

21 January 2018

A comprehensive analysis of deletions, multiplications, and copy number variations in PARK2

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.31176

21 January 2018

Parkin disease: a phenotypic study of a large case series

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.31176

21 January 2018

Mutations in the parkin gene cause autosomal recessive juvenile parkinsonism

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.31176

21 January 2018

Linkage disequilibrium and heritability of copy-number polymorphisms within duplicated regions of the human genome

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.31176

21 January 2018

Deletion of the Parkin coregulated gene causes male sterility in the quaking(viable) mouse mutant

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.31176

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.31176

21 January 2018

Brain serotonin and dopamine transporter bindings in adults with high-functioning autism.

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.31176

21 January 2018

Increased presynaptic dopamine function in Asperger syndrome

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.31176

21 January 2018

Association between family history of dementia and hallucinations in Parkinson disease.

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.31176

21 January 2018

Global variation in copy number in the human genome

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.31176

21 January 2018

Parkin protects mitochondrial genome integrity and supports mitochondrial DNA repair

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.31176

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.31176

21 January 2018

Familial juvenile parkinsonism: clinical and pathologic study in a family

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.31176

21 January 2018

Risk of Parkinson disease in carriers of parkin mutations: estimation using the kin-cohort method

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.31176

21 January 2018

A genome-wide linkage and association scan reveals novel loci for autism

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.31176

21 January 2018

Identification of a novel gene linked to parkin via a bi-directional promoter

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.31176

21 January 2018

Deletion of the Parkin co-regulated gene causes defects in ependymal ciliary motility and hydrocephalus in the quakingviable mutant mouse

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.B.31176

21 January 2018

Identifiers

10.1002/AJMG.B.31176

1 reference

Europe PubMed Central

PubMed publication ID

2 March 2018

http://europepmc.org/abstract/MED/21360662

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

2 March 2018

http://europepmc.org/abstract/MED/21360662

ResearchGate publication ID

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