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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: pinto f. 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.
EXOSC3 mutations in isolated cerebellar hypoplasia and spinal anterior horn involvement.
Biancheri R, Cassandrini D, Pinto F, Trovato R, Di Rocco M, Mirabelli-Badenier M, Pedemonte M, Panicucci C, Trucks H, Sander T, Zara F, Rossi A, Striano P, Minetti C, Santorelli FM. Biancheri R, et al. Among authors: pinto f. J Neurol. 2013 Jul;260(7):1866-70. doi: 10.1007/s00415-013-6896-0. Epub 2013 Apr 7. J Neurol. 2013. PMID: 23564332
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: pinto f. 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
De novo 12q22.q23.3 duplication associated with temporal lobe epilepsy.
Stella Vari M, Traverso M, Bellini T, Madia F, Pinto F, Striano P, Minetti C, Zara F. Stella Vari M, et al. Among authors: pinto f. Seizure. 2018 Apr;57:63-65. doi: 10.1016/j.seizure.2018.02.011. Epub 2018 Mar 2. Seizure. 2018. PMID: 29571056 Free article. Retracted.
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. Among authors: pinto f. Clin Drug Investig. 2016 Jan;36(1):87-91. doi: 10.1007/s40261-015-0351-1. Clin Drug Investig. 2016. PMID: 26507620
Long-term follow-up in pediatric patients with paroxysmal hypothermia (Shapiro's syndrome).
Tambasco N, Paoletti FP, Prato G, Mancardi MM, Prontera P, Giordano L, Grosso S, Romeo A, Pinto F, Savasta S, Peruzzi C, Romoli M, Striano P, Verrotti A, Belcastro V; Società Italiana Neurologia Pediatrica (SINP) Collaborative Network. Tambasco N, et al. Among authors: pinto f. Eur J Paediatr Neurol. 2018 Nov;22(6):1081-1086. doi: 10.1016/j.ejpn.2018.08.004. Epub 2018 Aug 29. Eur J Paediatr Neurol. 2018. PMID: 30195408
1,769 results