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Journal of Alzheimer'S Disease : JAD|November 19, 2016
APP Mutations in Cerebral Amyloid Angiopathy with or without Cortical Calcifications: Report of Three Families and a Literature ReviewFrançois Sellal, David Wallon, Laurent Martinez-Almoyna, et al.
European Journal of Human Genetics : EJHG|April 2, 2015
Mutation in the 3'untranslated region of APP as a genetic determinant of cerebral amyloid angiopathyGaël Nicolas, David Wallon, Claudia Goupil, 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.
American Journal of Human Genetics|March 4, 2014
Loss of α1β1 soluble guanylate cyclase, the major nitric oxide receptor, leads to moyamoya and achalasiaDominique Hervé, Anne Philippi, Reda Belbouab, et al.
Brain Communications|November 11, 2025
Clinical and molecular landscape of paediatric cerebral and spinal cavernous malformationsSandro Benichi, Estelle Balducci, Joseph Benzakoun, et al.
The Journal of Clinical Investigation|November 28, 2023
Age-related loss of Notch3 underlies brain vascular contractility deficiencies, glymphatic dysfunction, and neurodegeneration in miceMilagros C Romay, Russell H Knutsen, Feiyang Ma, et al.
Brain : a Journal of Neurology|May 30, 2023
Rare variants in ANO1, encoding a calcium-activated chloride channel, predispose to moyamoya diseaseAmélie Pinard, Wenlei Ye, Stuart M Fraser, et al.
International Journal of Molecular Sciences|August 16, 2020
Vascular Remodeling in Moyamoya Angiopathy: From Peripheral Blood Mononuclear Cells to Endothelial CellsFrancesca Tinelli, Sara Nava, Francesco Arioli, et al.
Neurology|October 15, 2021
Hemiplegic Migraine Associated With PRRT2 Variations: A Clinical and Genetic StudyFlorence Riant, Caroline Roos, Agathe Roubertie, et al.
Stroke|March 1, 2014
Genome-wide genotyping demonstrates a polygenic risk score associated with white matter hyperintensity volume in CADASILChristian Opherk, Mariya Gonik, Marco Duering, et al.
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