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 new case of autosomal dominant small vessel disease carrying a novel heterozygous mutation in HTRA1 gene: 2-year follow-up.

Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology - 1 Aug 2018

Pati A R, Battisti C, Taglia I, Galluzzi P, Bianchi M, Federico A

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 CADASIL
Share to HTRA1 gene
Share to Heterozygote
Share to High-Temperature Requirement A Serine Peptidase 1

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Leukoencephalopathies

Share to Longitudinal Studies

Share to Magnetic Resonance Imaging

Share to Mutation

Source

Identifiers

PMID: 29546604
DOI: 10.1007/s10072-018-3294-5

Genes

HTRA1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

A new case of autosomal dominant small vessel disease carrying a novel heterozygous mutation in HTRA1 gene: 2-year follow-up.PMID 29546604Read ↗

Comment: Autosomal dominant small vessel disease due to heterozygous HTRA1 mutations.Semantic proximity Read ↗

Cerebral small vessel disease caused by a novel heterozygous mutation in HTRA1.Semantic proximity Read ↗

A New Chinese Family of Autosomal Dominantly inherited Cerebral Small Vessel Disease Related to A Heterozygous HTRA1 MutationSemantic proximity Read ↗

Two novel heterozygous HTRA1 mutations in two pedigrees with cerebral small vessel disease families.Semantic proximity Read ↗

Autosomal dominant inheritance of a heterozygous mutation in HTRA1: A case report and literature review.Semantic proximity Read ↗

Heterozygous HTRA1 mutations are associated with autosomal dominant cerebral small vessel disease.Semantic proximity Read ↗

Novel mutations in HTRA1-related cerebral small vessel disease and comparison with CADASIL.Semantic proximity Read ↗

HTRA1-related autosomal dominant cerebral small vessel disease.Semantic proximity Read ↗

Genotype-phenotype correlations of heterozygous HTRA1-related cerebral small vessel disease: case report and systematic review.Semantic proximity Read ↗

A novel mutation in RASA1 causes capillary malformation and limb enlargementSemantic proximity Read ↗

Clinicoradiographic and genetic features of cerebral small vessel disease indicate variability in mode of inheritance for monoallelic HTRA1 variants.Semantic proximity Read ↗

Clinical features and pathogenicity assessment in patients with HTRA1-autosomal dominant disease.Semantic proximity Read ↗

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