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Novel AMPD2 mutation in pontocerebellar hypoplasia, dysmorphisms, and teeth abnormalities.
Accogli A, Iacomino M, Pinto F, Orsini A, Vari MS, Selmi R, Torella A, Nigro V, Minetti C, Severino M, Striano P, Capra V, Zara F. Accogli A, et al. Among authors: vari ms. Neurol Genet. 2017 Aug 9;3(5):e179. doi: 10.1212/NXG.0000000000000179. eCollection 2017 Oct. Neurol Genet. 2017. PMID: 28815207 Free PMC article. No abstract available.
Safety of Overnight Switch from Brand-Name to Generic Levetiracetam.
Vari MS, Pinto F, Mencaroni E, Giudizioso G, Minetti C, La Neve A, Francavilla T, Piccioli M, Striano S, del Gaudio L, Tovo P, Striano P, Verrotti A. Vari MS, et al. Clin Drug Investig. 2016 Jan;36(1):87-91. doi: 10.1007/s40261-015-0351-1. Clin Drug Investig. 2016. PMID: 26507620
Todd Paralysis in Rolandic Epilepsy.
Striano P, Vari MS. Striano P, et al. Among authors: vari ms. Pediatr Neurol Briefs. 2015 Jul;29(7):50. doi: 10.15844/pedneurbriefs-29-7-1. Pediatr Neurol Briefs. 2015. PMID: 26933588 Free PMC article.
Confirmation of mutations in PROSC as a novel cause of vitamin B 6 -dependent epilepsy.
Plecko B, Zweier M, Begemann A, Mathis D, Schmitt B, Striano P, Baethmann M, Vari MS, Beccaria F, Zara F, Crowther LM, Joset P, Sticht H, Papuc SM, Rauch A. Plecko B, et al. Among authors: vari ms. J Med Genet. 2017 Dec;54(12):809-814. doi: 10.1136/jmedgenet-2017-104521. Epub 2017 Apr 8. J Med Genet. 2017. PMID: 28391250
A novel Xp22.13 microdeletion in Nance-Horan syndrome.
Accogli A, Traverso M, Madia F, Bellini T, Vari MS, Pinto F, Capra V. Accogli A, et al. Among authors: vari ms. Birth Defects Res. 2017 Jul 3;109(11):866-868. doi: 10.1002/bdr2.1032. Epub 2017 May 2. Birth Defects Res. 2017. PMID: 28464487
Biochemical phenotyping unravels novel metabolic abnormalities and potential biomarkers associated with treatment of GLUT1 deficiency with ketogenic diet.
Cappuccio G, Pinelli M, Alagia M, Donti T, Day-Salvatore DL, Veggiotti P, De Giorgis V, Lunghi S, Vari MS, Striano P, Brunetti-Pierri N, Kennedy AD, Elsea SH. Cappuccio G, et al. Among authors: vari ms. PLoS One. 2017 Sep 29;12(9):e0184022. doi: 10.1371/journal.pone.0184022. eCollection 2017. PLoS One. 2017. PMID: 28961260 Free PMC article.
58 results