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Elderly CADASIL patients with intact neurological status.
Zhang R, Ouin E, Grosset L, Ighilkrim K, Lebenberg J, Guey S, François V, Tournier-Lasserve E, Jouvent E, Chabriat H. Zhang R, et al. J Stroke. 2022 Sep;24(3):352-362. doi: 10.5853/jos.2022.01578. Epub 2022 Sep 30. J Stroke. 2022. PMID: 36221938 Free PMC article.
A novel hereditary extensive vascular leukoencephalopathy mapping to chromosome 20q13.
Hervé D, Chabriat H, Rigal M, Dalloz MA, Kawkabani Marchini A, De Lepeleire J, Fontaine B, Ceuterick-de Groote C, Alili N, Mine M, Delaforge A, Bousser MG, Guichard JP, Martin JJ, Gray F, Tournier-Lasserve E. Hervé D, et al. Neurology. 2012 Dec 4;79(23):2283-7. doi: 10.1212/WNL.0b013e3182768954. Epub 2012 Nov 21. Neurology. 2012. PMID: 23175731
Genome-wide genotyping demonstrates a polygenic risk score associated with white matter hyperintensity volume in CADASIL.
Opherk C, Gonik M, Duering M, Malik R, Jouvent E, Hervé D, Adib-Samii P, Bevan S, Pianese L, Silvestri S, Dotti MT, De Stefano N, Liem M, Boon EM, Pescini F, Pachai C, Bracoud L, Müller-Myhsok B, Meitinger T, Rost N, Pantoni L, Lesnik Oberstein S, Federico A, Ragno M, Markus HS, Tournier-Lasserve E, Rosand J, Chabriat H, Dichgans M. Opherk C, et al. Stroke. 2014 Apr;45(4):968-72. doi: 10.1161/STROKEAHA.113.004461. Epub 2014 Feb 27. Stroke. 2014. PMID: 24578207 Free article.
Loss of α1β1 soluble guanylate cyclase, the major nitric oxide receptor, leads to moyamoya and achalasia.
Hervé D, Philippi A, Belbouab R, Zerah M, Chabrier S, Collardeau-Frachon S, Bergametti F, Essongue A, Berrou E, Krivosic V, Sainte-Rose C, Houdart E, Adam F, Billiemaz K, Lebret M, Roman S, Passemard S, Boulday G, Delaforge A, Guey S, Dray X, Chabriat H, Brouckaert P, Bryckaert M, Tournier-Lasserve E. Hervé D, et al. Am J Hum Genet. 2014 Mar 6;94(3):385-94. doi: 10.1016/j.ajhg.2014.01.018. Epub 2014 Feb 27. Am J Hum Genet. 2014. PMID: 24581742 Free PMC article.
256 results