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

Hunting for Familial Parkinson's Disease Mutations in the Post Genome Era.

Genes - 17 Mar 2021

Bentley Steven R, Guella Ilaria, Sherman Holly E, Neuendorf Hannah M, Sykes Alex M, Fowdar Javed Y, Silburn Peter A, Wood Stephen A, Farrer Matthew J, Mellick George D

Abstract excerpt

Parkinson's disease (PD) is typically sporadic; however, multi-incident families provide a powerful platform to discover novel genetic forms of disease. Their identification supports deciphering molecular processes leading to disease and may inform of new therapeutic targets. The LRRK2 p.G2019S mutation causes PD in 42.5-68% of carriers by the age of 80 years. We hypothesise similarly intermediately penetrant...

Read the complete abstract on PubMed

Topics

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

Share to Exome Sequencing
Share to GTPase-Activating Proteins

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Heterozygote

Share to High-Throughput Nucleotide Sequencing

Share to Mutation, Missense

Share to Parkinson Disease

Share to Pedigree

Share to Potassium Channels, Inwardly Rectifying

Source

Open in PubMed Open full text

Identifiers

PMID: 33802862
DOI: 10.3390/genes12030430
PMCID: PMC8002626

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

Hunting for Familial Parkinson's Disease Mutations in the Post Genome Era.PMID 33802862Read ↗

Parkinson’s Families Project: a UK-wide study of early onset and familial Parkinson’s diseaseSemantic proximity Read ↗

Analysis of LRRK2 G2019S carriers in the All of Us research program databaseSemantic proximity Read ↗

Meta-analysis of whole-exome sequencing data from two independent cohorts finds no evidence for rare variant enrichment in Parkinson disease associated loci.Semantic proximity Read ↗

Genetic Analysis and Natural History of Parkinson’s Disease Due to the LRRK2 G2019S VariantSemantic proximity Read ↗

Parkinson's disease-related LRRK2 G2019S mutation results from independent mutational events in humans.Semantic proximity Read ↗

Genetic analysis and natural history of Parkinson's disease due to the LRRK2 G2019S variant.Semantic proximity Read ↗

Rare variants in LRRK1 and Parkinson's disease.Semantic proximity Read ↗

A systematic screening to identify de novo mutations causing sporadic early-onset Parkinson's disease.Semantic proximity Read ↗

Progress in unraveling the genetic etiology of Parkinson disease in a genomic era.Semantic proximity Read ↗

Whole-Exome Sequencing in Familial Parkinson Disease.Semantic proximity Read ↗

Identification of sixteen novel candidate genes for late onset Parkinson's disease.Semantic proximity Read ↗

Utility and implications of exome sequencing in early‐onset Parkinson's diseaseSemantic proximity Read ↗

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