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Two novel HTRA1 mutations in a European CARASIL patient.

Neurology - 11 Mar 2014

Bianchi Silvia, Di Palma Chiara, Gallus Gian Nicola, Taglia Ilaria, Poggiani Antonella, Rosini Francesca, Rufa Alessandra, Muresanu Dafin Fior, Cerase Alfonso, Dotti Maria Teresa, Federico Antonio

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Identifiers

PMID: 24500651
DOI: 10.1212/WNL.0000000000000202

Genes

HTRA1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

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Two novel HTRA1 mutations in a European CARASIL patient.PMID 24500651Read ↗

CARASIL families from India with 3 novel null mutations in the HTRA1 gene.Semantic proximity Read ↗

A missense <i>HTRA1</i> mutation expands CARASIL syndrome to the Caucasian populationSemantic proximity Read ↗

A novel mutation in the HTRA1 gene identified in Chinese CARASIL pedigree.Semantic proximity Read ↗

A novel HTRA1 exon 2 mutation causes loss of protease activity in a Pakistani CARASIL patient.Semantic proximity Read ↗

A CARASIL Patient from Americas with Novel Mutation and Atypical Features: Case Presentation and Literature Review.Semantic proximity Read ↗

A Chinese CARASIL Patient Caused by Novel Compound Heterozygous Mutations in HTRA1.Semantic proximity Read ↗

A novel de novo pathogenic mutation in the CACNA1A gene.Semantic proximity Read ↗

Late-onset comedonal Darier disease with a novel frameshift mutation in ATP2A2.Semantic proximity Read ↗

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Identification of two novel mutations in the CACNA1A gene responsible for episodic ataxia type 2.Semantic proximity Read ↗

Genetically Confirmed CARASIL: Case Report with Novel HTRA1 Mutation and Literature Review.Semantic proximity Read ↗

Novel ATP2A2 mutation in a patient with Darier's disease.Semantic proximity Read ↗

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