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Article

Cerebral small vessel disease caused by a novel heterozygous mutation in HTRA1.

Journal of the neurological sciences - 15 May 2018

Thaler Franziska S, Catak Cihan, Einhäupl Maximilian, Müller Susanna, Seelos Klaus, Wollenweber Frank A, Kümpfel Tania

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Share to HTRA1 gene
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Source

Identifiers

PMID: 29627020
DOI: 10.1016/j.jns.2018.02.043

Genes

HTRA1

Provenance

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

Related research

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Research trail→

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Cerebral small vessel disease caused by a novel heterozygous mutation in HTRA1.PMID 29627020Read ↗

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

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

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

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

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

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

Two Unique Mutations in HTRA1-Related Cerebral Small Vessel Disease in North America and Africa and Literature Review.Semantic proximity Read ↗

HTRA1-related cerebral small-vessel disease causes cerebral microbleeds on the brainstem surfaceSemantic proximity Read ↗

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