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European Neurology|July 20, 2010
Phenotypic variability of episodic ataxia type 2 mutations: a family studyJulien Jung, Hervé Testard, Elisabeth Tournier-Lasserve, et al.
European Journal of Human Genetics : EJHG|May 16, 2024
Loss of heterozygosity in CCM2 cDNA revealing a structural variant causing multiple cerebral cavernous malformationsAnnabelle Chaussenot, Xavier Ayrignac, Nicolas Chatron, et al.
European Journal of Human Genetics : EJHG|July 16, 2015
Can whole-exome sequencing data be used for linkage analysis?Steven Gazal, Simon Gosset, Edgard Verdura, et al.
Stroke|March 24, 2007
COL4A1 mutation in a patient with sporadic, recurrent intracerebral hemorrhageKatayoun Vahedi, Nathalie Kubis, Monique Boukobza, et al.
European Journal of Human Genetics : EJHG|April 9, 2025
Benchmark of computational methods to detect digenism in sequencing dataMarie-Sophie C Ogloblinsky, Donald F Conrad, Anaïs Baudot, et al.
Stroke|December 1, 2004
Impaired vascular mechanotransduction in a transgenic mouse model of CADASIL arteriopathyCaroline Dubroca, Pierre Lacombe, Valérie Domenga, et al.
Genetic Epidemiology|April 14, 2022
RAVAQ: An integrative pipeline from quality control to region-based rare variant association analysisGaëlle Marenne, Thomas E Ludwig, Ozvan Bocher, et al.
Stroke|March 21, 2015
Cerebral Cavernous Malformation-1 Protein Controls DLL4-Notch3 Signaling Between the Endothelium and PericytesGerald B Schulz, Elfriede Wieland, Joycelyn Wüstehube-Lausch, et al.
Cerebral Circulation - Cognition and Behavior|November 28, 2025
Late-onset dementia with leukoencephalopathy and a COL4A2 gene variant, causal link or fortuitous association: a case reportAntoine Garnier-Crussard, Alexandre Bani-Sadr, Isabelle Quadrio, et al.
Neurogenetics|July 28, 2009
Identification of CACNA1A large deletions in four patients with episodic ataxiaFlorence Riant, Christelle Lescoat, Katayoun Vahedi, et al.
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