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Journal of Medical Genetics|January 12, 2020
Xq28 copy number gain causing moyamoya disease and a novel moyamoya syndromeChaker Aloui, Stéphanie Guey, Eva Pipiras, et al.The Journal of Cell Biology|August 7, 2013
CCM1-ICAP-1 complex controls β1 integrin-dependent endothelial contractility and fibronectin remodelingEva Faurobert, Claire Rome, Justyna Lisowska, et al.Human Genomics|March 21, 2023
Biallelic variants in NOS3 and GUCY1A3, the two major genes of the nitric oxide pathway, cause moyamoya cerebral angiopathyStéphanie Guey, Dominique Hervé, Manoëlle Kossorotoff, et al.Nature|June 11, 2013
EndMT contributes to the onset and progression of cerebral cavernous malformationsLuigi Maddaluno, Noemi Rudini, Roberto Cuttano, et al.Neurology. Genetics|September 17, 2021
Early-Onset Cerebral Amyloid Angiopathy and Alzheimer Disease Related to an APP Locus TriplicationLou Grangeon, Kévin Cassinari, Stéphane Rousseau, et al.Prenatal Diagnosis|January 7, 2025
Exome Sequencing of Fetuses With Intracranial Hemorrhage Unravels Novel Causative Genes and an Extreme Genetic HeterogeneityThibault Coste, Chaker Aloui, Justine Chanclud, et al.Stroke|January 2, 2026
COL4A1 and COL4A2 Gene Duplication or Triplication as a Genetic Cause of Cerebral Small Vessel Disease in AdultsDominique Hervé, Saskia A J Lesnik Oberstein, Eva Pipiras, et al.Neurosurgery|April 8, 2017
Synopsis of Guidelines for the Clinical Management of Cerebral Cavernous Malformations: Consensus Recommendations Based on Systematic Literature Review by the Angioma Alliance Scientific Advisory Board Clinical Experts PanelAmy Akers, Rustam Al-Shahi Salman, Issam A Awad, et al.American Journal of Human Genetics|May 21, 2011
Loss of BRCC3 deubiquitinating enzyme leads to abnormal angiogenesis and is associated with syndromic moyamoyaSnaigune Miskinyte, Matthew G Butler, Dominique Hervé, et al.Journal of Cell Science|July 22, 2018
The CCM1-CCM2 complex controls complementary functions of ROCK1 and ROCK2 that are required for endothelial integrityJustyna Lisowska, Claudia Jasmin Rödel, Sandra Manet, et al.Pageof 12