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

Characterization of SNCA Multiplication in Parkinson's Disease: 2 New Cases and Evaluation of the Literature

29 Jul 2023

Abstract excerpt

Abstract Background Alpha‐synuclein (SNCA) copy number variations (CNV) have been certified as a causative mutation in patients with familial and sporadic Parkinson's disease (PD). Case We report three SNCA duplication cases diagnosed as PD. Through whole‐exome sequencing, we identified a de novo 4.56 Mb repeated region in one patient and a 2.50 Mb repeated region in familial PD with two patients. Literature...

Read the complete abstract on PubMed

Topics

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

Share to Autism Spectrum Disorder Research
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: 37868923
DOI: 10.1002/mdc3.13852

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Characterization of SNCA Multiplication in Parkinson's Disease: 2 New Cases and Evaluation of the LiteraturePMID 37868923Read ↗

alpha-Synuclein multiplication analysis in Italian familial Parkinson disease.Semantic proximity Read ↗

Alpha‐synuclein gene duplication: Marked intrafamilial variability in two novel pedigreesSemantic proximity Read ↗

Genetic Analysis and Literature Review of SNCA Variants in Parkinson's DiseaseSemantic proximity Read ↗

alpha-Synuclein gene duplication is present in sporadic Parkinson disease.Semantic proximity Read ↗

Clinical heterogeneity of α‐synuclein gene duplication in Parkinson's diseaseSemantic proximity Read ↗

SNCA locus duplication carriers: from genetics to Parkinson disease phenotypes.Semantic proximity Read ↗

Genomic investigation of alpha-synuclein multiplication and parkinsonism.Semantic proximity Read ↗

Clinicopathologic study of a SNCA gene duplication patient with Parkinson disease and dementia.Semantic proximity Read ↗

A 6.4 Mb duplication of the α-synuclein locus causing frontotemporal dementia and Parkinsonism: phenotype-genotype correlations.Semantic proximity Read ↗

A population scale analysis of rare SNCA variation in the UK Biobank.Semantic proximity Read ↗

Copy number variability in Parkinson's disease: assembling the puzzle through a systems biology approach.Semantic proximity Read ↗

Expanding the clinical phenotype of SNCA duplication carriers.Semantic proximity Read ↗

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