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

GGC repeat expansions in NOTCH2NLC causing a phenotype of lower motor neuron syndrome.

Journal of neurology - 1 Aug 2022

Zhang Wei, Ma Jing, Shi Jiaying, Huang Shan, Zhao Rongjuan, Pang Xiaomin, Wang Juan, Guo Junhong, Chang Xueli

Abstract excerpt

A genetic diagnosis cannot be made in a considerable proportion of patients with hereditary lower motor neuron (LMN) syndromes. The GGC repeat expansion in the 5'untranslated region (5'UTR) of NOTCH2NLC gene has been reported to be associated with a group of NOTCH2NLC-related repeat expansion disorders (NRED), including amyotrophic lateral sclerosis (ALS). The relationship between the mutation and LMN syndromes...

Read the complete abstract on PubMed

Topics

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

Share to 5' Untranslated Regions
Share to Amyotrophic Lateral Sclerosis

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Intercellular Signaling Peptides and Proteins

Share to Intranuclear Inclusion Bodies

Share to Motor Neurons

Share to Nerve Tissue Proteins

Share to Phenotype

Share to Trinucleotide Repeat Expansion

Source

Identifiers

PMID: 35366689
DOI: 10.1007/s00415-022-11092-0

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

GGC repeat expansions in NOTCH2NLC causing a phenotype of lower motor neuron syndrome.PMID 35366689Read ↗

GGC repeat expansions in NOTCH2NLC causing a phenotype of distal motor neuropathy and myopathy.Semantic proximity Read ↗

Identification of GGC repeat expansion in the NOTCH2NLC gene in amyotrophic lateral sclerosis.Semantic proximity Read ↗

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

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

Intermediate-Length GGC Repeat Expansion in NOTCH2NLC Was Identified in Chinese Patients with Amyotrophic Lateral SclerosisSemantic proximity Read ↗

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

Expansion of GGC repeat in the human-specific NOTCH2NLC gene is associated with essential tremorSemantic proximity Read ↗

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

CGG expansion in<i>NOTCH2NLC</i>is associated with oculopharyngodistal myopathy with neurological manifestationsSemantic proximity Read ↗

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

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

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