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

<scp><i>NOTCH2NLC</i></scp> Intermediate‐Length Repeat Expansions Are Associated with Parkinson Disease

5 Oct 2020

Abstract excerpt

NOTCH2NLC GGC repeat expansions were recently identified in neuronal intranuclear inclusion disease (NIID); however, it remains unclear whether they occur in other neurodegenerative disorders. This study aimed to investigate the role of intermediate-length NOTCH2NLC GGC repeat expansions in Parkinson disease (PD). We screened for GGC repeat expansions in a cohort of 1,011 PD patients and identified 11 patients...

Read the complete abstract on PubMed

Topics

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

Share to Genetic Neurodegenerative Diseases
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: 33016348
DOI: 10.1002/ana.25925

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

<scp><i>NOTCH2NLC</i></scp> Intermediate‐Length Repeat Expansions Are Associated with Parkinson DiseasePMID 33016348Read ↗

Expansion of Human-Specific GGC Repeat in Neuronal Intranuclear Inclusion Disease-Related DisordersSemantic proximity Read ↗

NOTCH2NLC GGC intermediate repeat with serine induces hypermyelination and early Parkinson's disease-like phenotypes in mice.Semantic proximity Read ↗

Phenotypic bases of NOTCH2NLC GGC expansion positive neuronal intranuclear inclusion disease in a Southeast Asian cohort.Semantic proximity Read ↗

Long-read sequencing identifies GGC repeat expansion in human-specific <i>NOTCH2NLC</i> associated with neuronal intranuclear inclusion diseaseSemantic proximity Read ↗

NOTCH2NLC-related disorders: the widening spectrum and genotype–phenotype correlationSemantic proximity Read ↗

Repeat expansion scanning of the NOTCH2NLC gene in patients with multiple system atrophySemantic proximity Read ↗

Low Prevalence of NOTCH2NLC GGC Repeat Expansion in White Patients with Movement DisordersSemantic proximity Read ↗

Repeat expansions in Parkinson’s disease and parkinsonism across ancestries: insights from a global genetic cohortSemantic proximity Read ↗

Neuronal intranuclear inclusion disease is genetically heterogeneous.Semantic proximity Read ↗

Long-read sequencing identified repeat expansions in the 5′UTR of the NOTCH2NLC gene from Chinese patients with neuronal intranuclear inclusion diseaseSemantic proximity Read ↗

GGC Repeat Expansion of NOTCH2NLC in Taiwanese Patients With Inherited NeuropathiesSemantic proximity Read ↗

Association of Non-Coding Repeat Expansions with Parkinson's Disease Risk: Evidence from a UK Biobank-Based Whole-Genome Sequencing Study.Semantic proximity Read ↗

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