HeterozygousHTRA1mutations are associated with autosomal dominant cerebral small vessel disease

Two novel HTRA1 mutations in a European CARASIL patient

(2014) S. Bianchi et al.   NEUROLOGY

Cerebral small vessel disease-related protease HtrA1 processes latent TGF-β binding protein 1 and facilitates TGF-β signaling

(2014) Nathalie Beaufort et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Features of Cerebral Autosomal Recessive Arteriopathy With Subcortical Infarcts and Leukoencephalopathy

(2014) Hiroaki Nozaki et al.   STROKE

Recessive and dominant mutations in COL12A1 cause a novel EDS/myopathy overlap syndrome in humans and mice

(2013) Yaqun Zou et al.   HUMAN MOLECULAR GENETICS

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)

(2013) Yan Chen et al.   JOURNAL OF INTERNATIONAL MEDICAL RESEARCH

Mechanisms of sporadic cerebral small vessel disease: insights from neuroimaging

(2013) Joanna M Wardlaw et al.   LANCET NEUROLOGY

A Novel Mutation in theHTRA1Gene Identified in Chinese CARASIL Pedigree

(2012) Xiao-Ling Wang et al.   CNS Neuroscience & Therapeutics

Mutations in kelch-like 3 and cullin 3 cause hypertension and electrolyte abnormalities

(2012) Lynn M. Boyden et al.   NATURE

A novel mutation in the HTRA1 gene causes CARASIL without alopecia

(2011) Y. Nishimoto et al.   NEUROLOGY

Cerebral small vessel disease: from pathogenesis and clinical characteristics to therapeutic challenges

(2010) Leonardo Pantoni   LANCET NEUROLOGY

A missense HTRA1 mutation expands CARASIL syndrome to the Caucasian population

(2010) M. Mendioroz et al.   NEUROLOGY

Genetics and molecular pathogenesis of sporadic and hereditary cerebral amyloid angiopathies

(2009) Tamas Revesz et al.   ACTA NEUROPATHOLOGICA

CADASIL

(2009) Hugues Chabriat et al.   LANCET NEUROLOGY

Association of HTRA1 Mutations and Familial Ischemic Cerebral Small-Vessel Disease

(2009) Kenju Hara et al.   NEW ENGLAND JOURNAL OF MEDICINE