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

Heterogenous Genetic, Clinical, and Imaging Features in Patients with Neuronal Intranuclear Inclusion Disease Carrying NOTCH2NLC Repeat Expansion

15 Jun 2023

Abstract excerpt

Neuronal intranuclear inclusion disease (NIID) is a neurodegenerative disorder that is caused by the abnormal expansion of non-coding trinucleotide GGC repeats in NOTCH2NLC. NIID is clinically characterized by a broad spectrum of clinical presentations. To date, the relationship between expanded repeat lengths and clinical phenotype in patients with NIID remains unclear. Thus, we aimed to clarify the genetic and...

Source

Identifiers

PMID: 37371433
DOI: 10.3390/brainsci13060955

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 31 Aug 2026.

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Community interpretation

Discuss the evidence

Ask a question, add context or challenge an interpretation. Community activity is separate from scientific evidence strength.

0

discussions

0

replies

Citations encouraged

Claims remain attributable.

No discussion yet

Be the first to add a careful, cited interpretation.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Heterogenous Genetic, Clinical, and Imaging Features in Patients with Neuronal Intranuclear Inclusion Disease Carrying NOTCH2NLC Repeat ExpansionPMID 37371433Read ↗

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

Patients with biallelic GGC repeat expansions in NOTCH2NLC exhibiting a typical neuronal intranuclear inclusion disease phenotype.Semantic proximity Read ↗

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

Genetic origin of sporadic cases and RNA toxicity in neuronal intranuclear inclusion diseaseSemantic proximity Read ↗

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

The Phenotypes and Mechanisms of NOTCH2NLC-Related GGC Repeat Expansion Disorders: a Comprehensive Review.Semantic proximity Read ↗

Clinical phenotypic diversity of NOTCH2NLC-related disease in the largest case series of inherited peripheral neuropathy in Japan.Semantic proximity Read ↗

Neuronal intranuclear inclusion disease tremor‐dominant subtype: A mimicker of essential tremorSemantic proximity Read ↗

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

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

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