Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Identification of p.Gln858* in ATP13A2 in two EOPD patients and presentation of their clinical features.

Neuroscience letters - 8 Aug 2014

Malakouti-Nejad Maryam, Shahidi Gholam-Ali, Rohani Mohammad, Shojaee Seyed Mehdi, Hashemi Mehrdad, Klotzle Brandy, Fan Jian-Bing, Elahi Elahe

Abstract excerpt

We present results of homozygosity mapping in two siblings affected with early onset Parkinson's disease (EOPD) and mutation screening of ATP13A2 in these and other Iranian EOPD patients. Genome-wide SNP homozygosity analysis revealed linkage to a locus that included ATP13A2, and sequencing of the gene revealed a novel p.Gln858*-causing mutation in the homozygous state in the siblings. Sequencing of the gene in...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Chromosome Mapping
Share to Genetic Testing

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Homozygote

Share to Mutation

Share to Parkinson Disease

Share to Proton-Translocating ATPases

Share to Young Adult

Source

Identifiers

PMID: 24949580
DOI: 10.1016/j.neulet.2014.06.023

Genes

PINK1
PRKN

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Identification of p.Gln858* in ATP13A2 in two EOPD patients and presentation of their clinical features.PMID 24949580Read ↗

PARK9-linked parkinsonism in eastern Asia: mutation detection in ATP13A2 and clinical phenotype.Semantic proximity Read ↗

Early-Onset Hyperkinetic Movement Disorders Define the Most Severe Presentation of the ATP8A2-Related Phenotypic Spectrum.Semantic proximity Read ↗

Novel ATP13A2 variant associated with Parkinson disease in Taiwan and Singapore.Semantic proximity Read ↗

PARK2 mutations and clinical features in a Chinese population with early-onset Parkinson's disease.Semantic proximity Read ↗

An Update of Phenotypic-Genotypic IMNEPD Cases and a Bioinformatics Analysis of the New PTRH2 Gene Variants.Semantic proximity Read ↗

Genetic association study of the P-type ATPase ATP13A2 in late-onset Parkinson's disease.Semantic proximity Read ↗

ATP13A2 novel mutations causing a rare form of juvenile-onset Parkinson disease.Semantic proximity Read ↗

Mutations in the ATP13A2 gene and Parkinsonism: a preliminary review.Semantic proximity Read ↗

Novel compound heterozygous of PARKIN causes early-onset Parkinson's disease.Semantic proximity Read ↗

Different phenotypes of neurological diseases, including alternating hemiplegia of childhood and rapid-onset dystonia-parkinsonism, caused by de novo ATP1A3 mutation in a family.Semantic proximity Read ↗

Novel ATP13A2 and PINK1 variants identified in Chinese patients with Parkinson's disease by whole-exome sequencing.Semantic proximity Read ↗

Early Onset Parkinson's disease due to DJ1 mutations: An Indian study.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.