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APOE ɛ2 is associated with white matter hyperintensity volume in CADASIL.
Gesierich B, Opherk C, Rosand J, Gonik M, Malik R, Jouvent E, Hervé D, Adib-Samii P, Bevan S, Pianese L, Silvestri S, Dotti MT, De Stefano N, van der Grond J, Boon EM, Pescini F, Rost N, Pantoni L, Oberstein SA, Federico A, Ragno M, Markus HS, Tournier-Lasserve E, Chabriat H, Dichgans M, Duering M, Ewers M. Gesierich B, et al. Among authors: federico a. J Cereb Blood Flow Metab. 2016 Jan;36(1):199-203. doi: 10.1038/jcbfm.2015.85. J Cereb Blood Flow Metab. 2016. PMID: 25920955 Free PMC article.
Genome-wide genotyping demonstrates a polygenic risk score associated with white matter hyperintensity volume in CADASIL.
Opherk C, Gonik M, Duering M, Malik R, Jouvent E, Hervé D, Adib-Samii P, Bevan S, Pianese L, Silvestri S, Dotti MT, De Stefano N, Liem M, Boon EM, Pescini F, Pachai C, Bracoud L, Müller-Myhsok B, Meitinger T, Rost N, Pantoni L, Lesnik Oberstein S, Federico A, Ragno M, Markus HS, Tournier-Lasserve E, Rosand J, Chabriat H, Dichgans M. Opherk C, et al. Among authors: federico a. Stroke. 2014 Apr;45(4):968-72. doi: 10.1161/STROKEAHA.113.004461. Epub 2014 Feb 27. Stroke. 2014. PMID: 24578207 Free article.
Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (CADASIL) as a model of small vessel disease: update on clinical, diagnostic, and management aspects.
Di Donato I, Bianchi S, De Stefano N, Dichgans M, Dotti MT, Duering M, Jouvent E, Korczyn AD, Lesnik-Oberstein SA, Malandrini A, Markus HS, Pantoni L, Penco S, Rufa A, Sinanović O, Stojanov D, Federico A. Di Donato I, et al. Among authors: federico a. BMC Med. 2017 Feb 24;15(1):41. doi: 10.1186/s12916-017-0778-8. BMC Med. 2017. PMID: 28231783 Free PMC article. Review.
Vitamin D levels in cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL).
Carluccio MA, Di Donato I, Pescini F, Battaglini M, Bianchi S, Valenti R, Nannucci S, Franci B, Stromillo ML, De Stefano N, Inzitari D, Pantoni L, Nuti R, Federico A, Gonnelli S, Dotti MT. Carluccio MA, et al. Among authors: federico a. Neurol Sci. 2017 Jul;38(7):1333-1336. doi: 10.1007/s10072-017-2900-2. Epub 2017 Apr 4. Neurol Sci. 2017. PMID: 28378255
The effect of NOTCH3 pathogenic variant position on CADASIL disease severity: NOTCH3 EGFr 1-6 pathogenic variant are associated with a more severe phenotype and lower survival compared with EGFr 7-34 pathogenic variant.
Rutten JW, Van Eijsden BJ, Duering M, Jouvent E, Opherk C, Pantoni L, Federico A, Dichgans M, Markus HS, Chabriat H, Lesnik Oberstein SAJ. Rutten JW, et al. Among authors: federico a. Genet Med. 2019 Mar;21(3):676-682. doi: 10.1038/s41436-018-0088-3. Epub 2018 Jul 22. Genet Med. 2019. PMID: 30032161 Free PMC article.
The spectrum of mutations for CADASIL diagnosis.
Federico A, Bianchi S, Dotti MT. Federico A, et al. Neurol Sci. 2005 Jun;26(2):117-24. doi: 10.1007/s10072-005-0444-3. Neurol Sci. 2005. PMID: 15995828 Review.
Pregnancy in CADASIL.
Donnini I, Rinnoci V, Nannucci S, Valenti R, Pescini F, Mariani G, Bianchi S, Dotti MT, Federico A, Inzitari D, Pantoni L. Donnini I, et al. Among authors: federico a. Acta Neurol Scand. 2017 Dec;136(6):668-671. doi: 10.1111/ane.12784. Epub 2017 Jun 12. Acta Neurol Scand. 2017. PMID: 28608406
Impaired vasoreactivity in mildly disabled CADASIL patients.
Campolo J, De Maria R, Frontali M, Taroni F, Inzitari D, Federico A, Romano S, Puca E, Mariotti C, Tomasello C, Pantoni L, Pescini F, Dotti MT, Stromillo ML, De Stefano N, Tavani A, Parodi O. Campolo J, et al. Among authors: federico a. J Neurol Neurosurg Psychiatry. 2012 Mar;83(3):268-74. doi: 10.1136/jnnp-2011-300080. Epub 2011 Nov 9. J Neurol Neurosurg Psychiatry. 2012. PMID: 22072702
1,138 results