Neuronal intranuclear inclusion disease is genetically heterogeneous.

doi:10.1002/acn3.51151

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

Community

Back to search

Article

Neuronal intranuclear inclusion disease is genetically heterogeneous.

Annals of clinical and translational neurology - 1 Sept 2020

Chen Zhongbo, Yan Yau Wai, Jaunmuktane Zane, Tucci Arianna, Sivakumar Prasanth, Gagliano Taliun Sarah A, Turner Chris, Efthymiou Stephanie, Ibáñez Kristina, Sullivan Roisin, Bibi Farah, Athanasiou-Fragkouli Alkyoni, Bourinaris Thomas, Zhang David, Revesz Tamas, Lashley Tammaryn, DeTure Michael, Dickson Dennis W, Josephs Keith A, Gelpi Ellen, Kovacs Gabor G, Halliday Glenda, Rowe Dominic B, Blair Ian, Tienari Pentti J, Suomalainen Anu, Fox Nick C, Wood Nicholas W, Lees Andrew J, Haltia Matti J, Hardy John, Ryten Mina, Vandrovcova Jana, Houlden Henry

Abstract excerpt

Neuronal intranuclear inclusion disease (NIID) is a clinically heterogeneous neurodegenerative condition characterized by pathological intranuclear eosinophilic inclusions. A CGG repeat expansion in NOTCH2NLC was recently identified to be associated with NIID in patients of Japanese descent. We screened pathologically confirmed European NIID, cases of neurodegenerative disease with intranuclear inclusions and...

Read the complete abstract on PubMed

Topics

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

Share to Age of Onset

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

Share to Europe

Share to Intranuclear Inclusion Bodies

Share to Neurodegenerative Diseases

Share to Receptor, Notch2

Share to Trinucleotide Repeat Expansion

Share to White People

Share to Whole Genome Sequencing

Source

Open in PubMed Open full text

Identifiers

PMID: 32777174
DOI: 10.1002/acn3.51151
PMCID: PMC7480908

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

Neuronal intranuclear inclusion disease is genetically heterogeneous.PMID 32777174Read ↗

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

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

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 ↗

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

DNA hypermethylation of NOTCH2NLC in neuronal intranuclear inclusion disease: a case–control studySemantic proximity Read ↗

Proteomic profile of nuclei containing p62-positive inclusions in neuronal intranuclear inclusion diseaseSemantic proximity Read ↗

NOTCH2NLC mutation-positive neuronal intranuclear inclusion disease with retinal dystrophy: A case report and literature review.Semantic proximity Read ↗

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

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