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CCM3 Mutations Are Associated with Early-Onset Cerebral Hemorrhage and Multiple Meningiomas.
Riant F, Bergametti F, Fournier HD, Chapon F, Michalak-Provost S, Cecillon M, Lejeune P, Hosseini H, Choe C, Orth M, Bernreuther C, Boulday G, Denier C, Labauge P, Tournier-Lasserve E. Riant F, et al. Among authors: chapon f. Mol Syndromol. 2013 Apr;4(4):165-72. doi: 10.1159/000350042. Epub 2013 Apr 3. Mol Syndromol. 2013. PMID: 23801932 Free PMC article.
EndMT contributes to the onset and progression of cerebral cavernous malformations.
Maddaluno L, Rudini N, Cuttano R, Bravi L, Giampietro C, Corada M, Ferrarini L, Orsenigo F, Papa E, Boulday G, Tournier-Lasserve E, Chapon F, Richichi C, Retta SF, Lampugnani MG, Dejana E. Maddaluno L, et al. Among authors: chapon f. Nature. 2013 Jun 27;498(7455):492-6. doi: 10.1038/nature12207. Epub 2013 Jun 9. Nature. 2013. PMID: 23748444
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy, genetic homogeneity, and mapping of the locus within a 2-cM interval.
Ducros A, Nagy T, Alamowitch S, Nibbio A, Joutel A, Vahedi K, Chabriat H, Iba-Zizen MT, Julien J, Davous P, Goas JY, Lyon-Caen O, Dubois B, Ducrocq X, Salsa F, Ragno M, Burkhard P, Bassetti C, Hutchinson M, Vérin M, Viader F, Chapon F, Levasseur M, Mas JL, Delrieu O, et al. Ducros A, et al. Among authors: chapon f. Am J Hum Genet. 1996 Jan;58(1):171-81. Am J Hum Genet. 1996. PMID: 8554054 Free PMC article.
Disruption of a miR-29 binding site leading to COL4A1 upregulation causes pontine autosomal dominant microangiopathy with leukoencephalopathy.
Verdura E, Hervé D, Bergametti F, Jacquet C, Morvan T, Prieto-Morin C, Mackowiak A, Manchon E, Hosseini H, Cordonnier C, Girard-Buttaz I, Rosenstingl S, Hagel C, Kuhlenbaümer G, Leca-Radu E, Goux D, Fleming L, Van Agtmael T, Chabriat H, Chapon F, Tournier-Lasserve E. Verdura E, et al. Among authors: chapon f. Ann Neurol. 2016 Nov;80(5):741-753. doi: 10.1002/ana.24782. Epub 2016 Oct 19. Ann Neurol. 2016. PMID: 27666438
195 results