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

A Japanese CADASIL patient with homozygous NOTCH3 p.Arg544Cys mutation confirmed pathologically.

Journal of the neurological sciences - 15 Nov 2018

Mukai Mao, Mizuta Ikuko, Ueda Akihiko, Nakashima Daisuke, Kushimura Yukie, Noto Yu-Ichi, Ohara Tomoyuki, Itoh Kyoko, Ando Yukio, Mizuno Toshiki

Abstract excerpt

No abstract is available from the source.

Read the complete abstract on PubMed

Topics

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

Share to Arginine
Share to Asian People
Share to CADASIL
Share to Cysteine

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Magnetic Resonance Imaging

Share to Microscopy, Electron, Scanning

Share to Receptor, Notch3

Source

Identifiers

PMID: 30199759
DOI: 10.1016/j.jns.2018.08.029

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

A Japanese CADASIL patient with homozygous NOTCH3 p.Arg544Cys mutation confirmed pathologically.PMID 30199759Read ↗

Homozygosity for a NOTCH3 mutation in a 65-year-old CADASIL patient with mild symptoms: a family report.Semantic proximity Read ↗

First report of a homozygous mutation on exon 24 of the NOTCH3 gene in a paucisymptomatic CADASIL elderly patient.Semantic proximity Read ↗

Mutation spectrum and genotype-phenotype correlations in 157 Korean CADASIL patients: a multicenter study.Semantic proximity Read ↗

Clinical features and mutation spectrum in Chinese patients with CADASIL: A multicenter retrospective study.Semantic proximity Read ↗

Hypomorphic NOTCH3 mutation in an Italian family with CADASIL featuresSemantic proximity Read ↗

Novel human pathological mutations. Gene symbol: NOTCH3. Disease: CADASIL, exon 2 mutation.Semantic proximity Read ↗

Notch3 mutations and the potential for diagnostic testing for CADASIL.Semantic proximity Read ↗

First evidence of a pathogenic insertion in the NOTCH3 gene causing CADASIL.Semantic proximity Read ↗

A Japanese Case of CADASIL with a Rare Mutation in Exon 24 of the NOTCH3 Gene.Semantic proximity Read ↗

Splice site mutation causing a seven amino acid Notch3 in-frame deletion in CADASIL.Semantic proximity Read ↗

Clinical and Genetic Aspects of CADASILSemantic proximity Read ↗

Interpretation of NOTCH3 mutations in the diagnosis of CADASIL.Semantic proximity Read ↗

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