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Vascular Remodeling in Moyamoya Angiopathy: From Peripheral Blood Mononuclear Cells to Endothelial Cells.
Tinelli F, Nava S, Arioli F, Bedini G, Scelzo E, Lisini D, Faragò G, Gioppo A, Ciceri EF, Acerbi F, Ferroli P, Vetrano IG, Esposito S, Saletti V, Pantaleoni C, Zibordi F, Nardocci N, Zedde ML, Pezzini A, Di Lazzaro V, Capone F, Dell'Acqua ML, Vajkoczy P, Tournier-Lasserve E, Parati EA, Bersano A, Gatti L. Tinelli F, et al. Int J Mol Sci. 2020 Aug 11;21(16):5763. doi: 10.3390/ijms21165763. Int J Mol Sci. 2020. PMID: 32796702 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. Cerebrovasc Dis. 2016;41(3-4):105-18. doi: 10.1159/000442298. Epub 2016 Jan 12. Cerebrovasc Dis. 2016. PMID: 26756907 Free article. Review.
The Genetic Basis of Moyamoya Disease.
Mertens R, Graupera M, Gerhardt H, Bersano A, Tournier-Lasserve E, Mensah MA, Mundlos S, Vajkoczy P. Mertens R, et al. Transl Stroke Res. 2022 Feb;13(1):25-45. doi: 10.1007/s12975-021-00940-2. Epub 2021 Sep 16. Transl Stroke Res. 2022. PMID: 34529262 Free PMC 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. 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
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. 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.
Moyamoya disease: diagnosis and interventions.
Ihara M, Yamamoto Y, Hattori Y, Liu W, Kobayashi H, Ishiyama H, Yoshimoto T, Miyawaki S, Clausen T, Bang OY, Steinberg GK, Tournier-Lasserve E, Koizumi A. Ihara M, et al. Lancet Neurol. 2022 Aug;21(8):747-758. doi: 10.1016/S1474-4422(22)00165-X. Epub 2022 May 20. Lancet Neurol. 2022. PMID: 35605621 Review.
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. 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.
255 results