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

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

Medicine - 12 May 2023

Katayama Takayuki, Takahashi Kae, Yahara Osamu, Sawada Jun, Ishida Ken-Ichi, Asanome Asuka, Endo Hisako, Saito Tsukasa, Hasebe Naoyuki, Kishibe Mari, Kanno Harumi, Ishiko Satoshi, Sone Jun

Abstract excerpt

INTRODUCTION: Neuronal intranuclear inclusion disease (NIID) is a neurodegenerative disorder that produces a broad spectrum of clinical conditions such as dementia, upper motor neuron involvement, extrapyramidal symptoms, and neuropathy. Some studies have reported ophthalmological conditions associated with the disease; however, the details of these conditions remain unclear. PATIENT CONCERNS: We report a...

Read the complete abstract on PubMed

Topics

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

Share to Intranuclear Inclusion Bodies
Share to Mutation

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

Share to Neurodegenerative Diseases

Share to Retinal Dystrophies

Source

Open in PubMed Open full text

Identifiers

PMID: 37171294
DOI: 10.1097/MD.0000000000033789
PMCID: PMC10174370

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.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

NOTCH2NLC mutation-positive neuronal intranuclear inclusion disease with retinal dystrophy: A case report and literature review.PMID 37171294Read ↗

Case report: Neuronal intranuclear inclusion disease with recurrent nausea and vomitingSemantic proximity Read ↗

Neuronal intranuclear inclusion disease: a case report and literature reviewSemantic proximity Read ↗

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

Rare and Misdiagnosed Case Reports: Analysis of Five Cases of Neuronal Intranuclear Inclusion DiseaseSemantic proximity Read ↗

Adult-Type Neuronal Intranuclear Inclusion Disease with Limb Tremor Onset: Case Report and Literature ReviewSemantic proximity Read ↗

A Case of Neuronal Intranuclear Inclusion Disease Presenting with Episodic Visual Blurring: A Case ReportSemantic proximity Read ↗

Clinical Characteristics of Neuronal Intranuclear Inclusion Disease-Related Retinopathy With CGG Repeat Expansions in the NOTCH2NLC GeneSemantic proximity Read ↗

Neuronal intranuclear inclusion disease characterized by multiple stroke-like episodes and visual hallucinations: a case report and literature reviewSemantic proximity Read ↗

Intranuclear inclusions in skin biopsies are not limited to neuronal intranuclear inclusion disease but can also be seen in oculopharyngodistal myopathySemantic proximity Read ↗

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

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

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

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