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01-05-2015 | Letter to the Editors

A novel HTRA1 exon 2 mutation causes loss of protease activity in a Pakistani CARASIL patient

Authors: Zhaleh Khaleeli, Zane Jaunmuktane, Nathalie Beaufort, Henry Houlden, Christof Haffner, Sebastian Brandner, Martin Dichgans, David Werring

Published in: Journal of Neurology | Issue 5/2015

Excerpt

Dear Sirs, …

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Chen Y, He Z, Meng S, Li L, Yang H, Zhang X (2013) A novel mutation of the high-temperature requirement A serine peptidase 1 (HTRA1) gene in a Chinese family with cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy (CARASIL). J Int Med Res 41:1445–1455CrossRefPubMed

Mendioroz M, Fernandez-Cadenas I, Del Rio-Espinola A et al (2010) A missense HTRA1 mutation expands CARASIL syndrome to the Caucasian population. Neurology 75:2033–2035CrossRefPubMed

Bianchi S, Di Palma C, Gallus GN et al (2014) Two novel HTRA1 mutations in a European CARASIL patient. Neurology 82:898–900CrossRefPubMed

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Beaufort N, Scharrer E, Kremmer E, Lux V, Ehrmann M, Huber R, Houlden H, Werring D, Haffner C, Dichgans M (2014) The cerebral small vessel disease-related protease HtrA1 processes latent TGF-ß binding protein 1 and facilitates TGF-ß signalling. Proc Natl Acad Sci USA 111:16496–16501PubMedCentralCrossRefPubMed

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Title: A novel HTRA1 exon 2 mutation causes loss of protease activity in a Pakistani CARASIL patient
Authors: Zhaleh Khaleeli
Zane Jaunmuktane
Nathalie Beaufort
Henry Houlden
Christof Haffner
Sebastian Brandner
Martin Dichgans
David Werring
Publication date: 01-05-2015
Publisher: Springer Berlin Heidelberg
Published in: Journal of Neurology / Issue 5/2015
Print ISSN: 0340-5354
Electronic ISSN: 1432-1459
DOI: https://doi.org/10.1007/s00415-015-7769-5

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A novel HTRA1 exon 2 mutation causes loss of protease activity in a Pakistani CARASIL patient

Excerpt

Keynote webinar | Spotlight on medication adherence

Springer Medicine

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