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509 results

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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: silvestri s. 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: silvestri s. Stroke. 2014 Apr;45(4):968-72. doi: 10.1161/STROKEAHA.113.004461. Epub 2014 Feb 27. Stroke. 2014. PMID: 24578207 Free article.
"CADASIL coma" in an Italian homozygous CADASIL patient: comparison with clinical and MRI findings in age-matched heterozygous patients with the same G528C NOTCH3 mutation.
Ragno M, Pianese L, Morroni M, Cacchiò G, Manca A, Di Marzio F, Silvestri S, Miceli C, Scarcella M, Onofrj M, Trojano L. Ragno M, et al. Among authors: silvestri s. Neurol Sci. 2013 Nov;34(11):1947-53. doi: 10.1007/s10072-013-1418-5. Epub 2013 Apr 10. Neurol Sci. 2013. PMID: 23572112
Maternal germline mosaicism in Fabry disease.
Pianese L, Fortunato A, Silvestri S, Solano FG, Burlina A, Burlina AP, Ragno M. Pianese L, et al. Among authors: silvestri s. Neurol Sci. 2019 Jun;40(6):1279-1281. doi: 10.1007/s10072-019-03754-1. Epub 2019 Feb 14. Neurol Sci. 2019. PMID: 30762167
A new de novo mutation in the GCK gene causing MODY2.
Cappelli A, Silvestri S, Tumini S, Carinci S, Cipriano P, Massi L, Staffolani P, Pianese L. Cappelli A, et al. Among authors: silvestri s. Diabetes Res Clin Pract. 2011 Jul;93(1):e41-3. doi: 10.1016/j.diabres.2011.04.006. Epub 2011 Apr 22. Diabetes Res Clin Pract. 2011. PMID: 21514682
509 results