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270 results
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Page 1
Cutaneous manifestations in Moyamoya angiopathy: A review.
Mitri F, Bersano A, Hervé D, Kraemer M. Mitri F, et al. Among authors: herve d. Eur J Neurol. 2021 May;28(5):1784-1793. doi: 10.1111/ene.14754. Epub 2021 Mar 1. Eur J Neurol. 2021. PMID: 33486780 Review.
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
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 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
Familial occurrence and heritable connective tissue disorders in cervical artery dissection.
Debette S, Goeggel Simonetti B, Schilling S, Martin JJ, Kloss M, Sarikaya H, Hausser I, Engelter S, Metso TM, Pezzini A, Thijs V, Touzé E, Paolucci S, Costa P, Sessa M, Samson Y, Béjot Y, Altintas A, Metso AJ, Hervé D, Lichy C, Jung S, Fischer U, Lamy C, Grau A, Chabriat H, Caso V, Lyrer PA, Stapf C, Tatlisumak T, Brandt T, Tournier-Lasserve E, Germain DP, Frank M, Baumgartner RW, Grond-Ginsbach C, Bousser MG, Leys D, Dallongeville J, Bersano A, Arnold M; CADISP-plus consortium. Debette S, et al. Among authors: herve d. Neurology. 2014 Nov 25;83(22):2023-31. doi: 10.1212/WNL.0000000000001027. Epub 2014 Oct 29. Neurology. 2014. PMID: 25355833 Free PMC article.
Research Progresses in Understanding the Pathophysiology of Moyamoya Disease.
Bersano A, Guey S, Bedini G, Nava S, Hervé D, Vajkoczy P, Tatlisumak T, Sareela M, van der Zwan A, Klijn CJ, Braun KP, Kronenburg A, Acerbi F, Brown MM, Calviere L, Cordonnier C, Henon H, Thines L, Khan N, Czabanka M, Kraemer M, Simister R, Prontera P, Tournier-Lasserve E, Parati E; European Moyamoya Disease Initiative. Bersano A, et al. Among authors: herve d. Cerebrovasc Dis. 2016;41(3-4):105-18. doi: 10.1159/000442298. Epub 2016 Jan 12. Cerebrovasc Dis. 2016. PMID: 26756907 Free article. Review.
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: herve d. 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
Rare RNF213 variants in the C-terminal region encompassing the RING-finger domain are associated with moyamoya angiopathy in Caucasians.
Guey S, Kraemer M, Hervé D, Ludwig T, Kossorotoff M, Bergametti F, Schwitalla JC, Choi S, Broseus L, Callebaut I, Genin E, Tournier-Lasserve E; FREX consortium. Guey S, et al. Among authors: herve d. Eur J Hum Genet. 2017 Aug;25(8):995-1003. doi: 10.1038/ejhg.2017.92. Epub 2017 Jun 21. Eur J Hum Genet. 2017. PMID: 28635953 Free PMC article.
Predictors of clinical or cerebral lesion progression in adult moyamoya angiopathy.
Hervé D, Ibos-Augé N, Calvière L, Rogan C, Labeyrie MA, Guichard JP, Godin O, Kossorotoff M, Habert MO, Lasserve ET, Chevret S, Chabriat H. Hervé D, et al. Neurology. 2019 Jul 23;93(4):e388-e397. doi: 10.1212/WNL.0000000000007819. Epub 2019 Jun 25. Neurology. 2019. PMID: 31239360 Free PMC article.
The pleiotropy associated with de novo variants in CHD4, CNOT3, and SETD5 extends to moyamoya angiopathy.
Pinard A, Guey S, Guo D, Cecchi AC, Kharas N, Wallace S, Regalado ES, Hostetler EM, Sharrief AZ, Bergametti F, Kossorotoff M, Hervé D, Kraemer M, Bamshad MJ, Nickerson DA, Smith ER, Tournier-Lasserve E, Milewicz DM. Pinard A, et al. Among authors: herve d. Genet Med. 2020 Feb;22(2):427-431. doi: 10.1038/s41436-019-0639-2. Epub 2019 Sep 2. Genet Med. 2020. PMID: 31474762 Free PMC article.
270 results