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

Levodopa-responsive dystonia caused by biallelic PRKN exon inversion invisible to exome sequencing

1 Jan 2021

Abstract excerpt

Abstract Biallelic pathogenic variants in PRKN (PARK2), encoding the E3 ubiquitin ligase parkin, lead to early-onset Parkinson's disease. Structural variants, including duplications or deletions, are common in PRKN due to their location within the fragile site FRA6E. These variants are readily detectable by copy number variation analysis. We studied four siblings with levodopa-responsive dystonia by exome...

Read the complete abstract on PubMed

Topics

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

Share to Genetics and Neurodevelopmental Disorders
Share to Neurological disorders and treatments
Share to Parkinson's Disease Mechanisms and Treatments

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Source

Identifiers

PMID: 34514401
DOI: 10.1093/braincomms/fcab197

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Levodopa-responsive dystonia caused by biallelic PRKN exon inversion invisible to exome sequencingPMID 34514401Read ↗

Long-read sequencing resolves a complex structural variant in<i>PRKN</i>Parkinson’s diseaseSemantic proximity Read ↗

Long-Read Sequencing Resolves a Complex Structural Variant in PRKN Parkinson's Disease.Semantic proximity Read ↗

Long‐Read Sequencing Unravels the Complexity of Structural Variants in PRKN in Two Individuals with Early‐Onset Parkinson's DiseaseSemantic proximity Read ↗

Long-read sequencing unravels the complexity of structural variants in<i>PRKN</i>in two individuals with early-onset Parkinson’s diseaseSemantic proximity Read ↗

Heterozygous PRKN mutations are common but do not increase the risk of Parkinson's disease.Semantic proximity Read ↗

The Utility of Long-Read Sequencing in Diagnosing Genetic Autosomal Recessive Parkinson’s Disease: a genetic screening studySemantic proximity Read ↗

Analysis of heterozygous <i>PRKN</i> variants and copy number variations in Parkinson’s diseaseSemantic proximity Read ↗

Genetic Variations and Neuropathologic Features of Patients with PRKN Mutations.Semantic proximity Read ↗

Heterozygous <i>PRKN</i> mutations are common but do not increase the risk of Parkinson’s diseaseSemantic 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 ↗

Analysis of Heterozygous PRKN Variants and Copy-Number Variations in Parkinson's Disease.Semantic proximity Read ↗

Homozygous partial genomic triplication of the parkin gene in early-onset parkinsonism.Semantic proximity Read ↗

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