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Page 1
Loss of BRCC3 deubiquitinating enzyme leads to abnormal angiogenesis and is associated with syndromic moyamoya.
Miskinyte S, Butler MG, Hervé D, Sarret C, Nicolino M, Petralia JD, Bergametti F, Arnould M, Pham VN, Gore AV, Spengos K, Gazal S, Woimant F, Steinberg GK, Weinstein BM, Tournier-Lasserve E. Miskinyte S, et al. Among authors: herve d. Am J Hum Genet. 2011 Jun 10;88(6):718-728. doi: 10.1016/j.ajhg.2011.04.017. Epub 2011 May 19. Am J Hum Genet. 2011. PMID: 21596366 Free PMC article.
A hereditary moyamoya syndrome with multisystemic manifestations.
Hervé D, Touraine P, Verloes A, Miskinyte S, Krivosic V, Logeart D, Alili N, Laredo JD, Gaudric A, Houdart E, Metzger JP, Tournier-Lasserve E, Woimant F. Hervé D, et al. Neurology. 2010 Jul 20;75(3):259-64. doi: 10.1212/WNL.0b013e3181e8ee3f. Neurology. 2010. PMID: 20644152
Presymptomatic genetic testing in CADASIL.
Reyes S, Kurtz A, Hervé D, Tournier-Lasserve E, Chabriat H. Reyes S, et al. Among authors: herve d. J Neurol. 2012 Oct;259(10):2131-6. doi: 10.1007/s00415-012-6468-8. Epub 2012 Mar 15. J Neurol. 2012. PMID: 22418996
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
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.
Mutation in the 3'untranslated region of APP as a genetic determinant of cerebral amyloid angiopathy.
Nicolas G, Wallon D, Goupil C, Richard AC, Pottier C, Dorval V, Sarov-Rivière M, Riant F, Hervé D, Amouyel P, Guerchet M, Ndamba-Bandzouzi B, Mbelesso P, Dartigues JF, Lambert JC, Preux PM, Frebourg T, Campion D, Hannequin D, Tournier-Lasserve E, Hébert SS, Rovelet-Lecrux A. Nicolas G, et al. Among authors: herve d. Eur J Hum Genet. 2016 Jan;24(1):92-8. doi: 10.1038/ejhg.2015.61. Epub 2015 Apr 1. Eur J Hum Genet. 2016. PMID: 25828868 Free PMC article.
Heterozygous HTRA1 mutations are associated with autosomal dominant cerebral small vessel disease.
Verdura E, Hervé D, Scharrer E, Amador Mdel M, Guyant-Maréchal L, Philippi A, Corlobé A, Bergametti F, Gazal S, Prieto-Morin C, Beaufort N, Le Bail B, Viakhireva I, Dichgans M, Chabriat H, Haffner C, Tournier-Lasserve E. Verdura E, et al. Among authors: herve d. Brain. 2015 Aug;138(Pt 8):2347-58. doi: 10.1093/brain/awv155. Epub 2015 Jun 10. Brain. 2015. PMID: 26063658
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: herve d. Ann Neurol. 2016 Nov;80(5):741-753. doi: 10.1002/ana.24782. Epub 2016 Oct 19. Ann Neurol. 2016. PMID: 27666438
288 results