Discover Community Create You

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

Lack of PTRHD1 mutation in patients with young-onset and familial Parkinson's disease in a Taiwanese population.

Neurobiology of aging - 1 Apr 2021

Chen Szu-Ju, Ho Chang-Han, Lin Hang-Yi, Lin Chin-Hsien, Wu Ruey-Meei

Abstract excerpt

Mutations in the peptidyl-tRNA hydrolase domain containing 1 (PTRHD1) gene have been recently identified in consanguineous Iranian and African families with juvenile parkinsonism and intellectual disability. However, the pathogenicity of PTRHD1 mutations in the disease and their role in young-onset Parkinson's disease (PD) remains unclear. We aimed to investigate PTRHD1 mutations in a Taiwanese cohort with...

Read the complete abstract on PubMed

Topics

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

Share to Age Factors
Share to Cohort Studies
Share to Exons

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Membrane Proteins

Share to Mitochondrial Proteins

Share to Parkinson Disease

Share to Parkinsonian Disorders

Share to Taiwan

Source

Identifiers

PMID: 33004232
DOI: 10.1016/j.neurobiolaging.2020.09.002

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Lack of PTRHD1 mutation in patients with young-onset and familial Parkinson's disease in a Taiwanese population.PMID 33004232Read ↗

Analysis of PTRHD1 common and rare variants in European patients with Parkinson's disease.Semantic proximity Read ↗

Analysis of PTRHD1 common and rare variants in European patients with Parkinson’s diseaseSemantic proximity Read ↗

PTRHD1 Loss‐of‐function mutation in an african family with juvenile‐onset Parkinsonism and intellectual disabilitySemantic proximity Read ↗

PTRHD1 (C2orf79) mutations lead to autosomal-recessive intellectual disability and parkinsonism.Semantic proximity Read ↗

Homozygous PTRHD1 Mutation in Intellectual Disability and Atypical Parkinsonism.Semantic proximity Read ↗

The PTRHD1 Mutation in Intellectual Disability.Semantic proximity Read ↗

Genetic Variants and Clinical Characteristics of Young-Onset Parkinson's Disease in the Hakka Population of Western Fujian.Semantic proximity Read ↗

DNAJC6 mutations are not common causes of early onset Parkinson's disease in Chinese Han population.Semantic proximity Read ↗

PLA2G6 mutations in PARK14-linked young-onset parkinsonism and sporadic Parkinson's disease.Semantic proximity Read ↗

Whole exome sequencing identified a new compound heterozygous PRKN mutation in a Chinese family with early-onset Parkinson's disease.Semantic proximity Read ↗

Parkin mutations and early-onset parkinsonism in a Taiwanese cohort.Semantic proximity Read ↗

Low-frequency and rare coding variants of NUS1 contribute to pathogenesis and phenotype of Parkinson’s disease: a case-control studySemantic proximity Read ↗

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