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Brain : a Journal of Neurology|June 12, 2015
Heterozygous HTRA1 mutations are associated with autosomal dominant cerebral small vessel diseaseEdgard Verdura, Dominique Hervé, Eva Scharrer, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|September 3, 2019
The pleiotropy associated with de novo variants in CHD4, CNOT3, and SETD5 extends to moyamoya angiopathyAmélie Pinard, Stéphanie Guey, Dongchuan Guo, et al.
Annals of Neurology|September 27, 2016
Disruption of a miR-29 binding site leading to COL4A1 upregulation causes pontine autosomal dominant microangiopathy with leukoencephalopathyEdgard Verdura, Dominique Hervé, Françoise Bergametti, et al.
Brain : a Journal of Neurology|July 16, 2021
Heterozygous HTRA1 nonsense or frameshift mutations are pathogenicThibault Coste, Dominique Hervé, Jean Philippe Neau, et al.
JAMA Network Open|April 17, 2024
An AluYa5 Insertion in the 3'UTR of COL4A1 and Cerebral Small Vessel DiseaseChaker Aloui, Lisa Neumann, Françoise Bergametti, et al.
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