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Page 1
De novo mutations in CBL causing early-onset paediatric moyamoya angiopathy.
Guey S, Grangeon L, Brunelle F, Bergametti F, Amiel J, Lyonnet S, Delaforge A, Arnould M, Desnous B, Bellesme C, Hervé D, Schwitalla JC, Kraemer M, Tournier-Lasserve E, Kossorotoff M. Guey S, et al. Among authors: delaforge a. J Med Genet. 2017 Aug;54(8):550-557. doi: 10.1136/jmedgenet-2016-104432. Epub 2017 Mar 25. J Med Genet. 2017. PMID: 28343148
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. Among authors: delaforge a. 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.
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. Among authors: delaforge a. Neurology. 2012 Dec 4;79(23):2283-7. doi: 10.1212/WNL.0b013e3182768954. Epub 2012 Nov 21. Neurology. 2012. PMID: 23175731