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335 results

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Familial occurrence of febrile seizures and epilepsy in severe myoclonic epilepsy of infancy (SMEI) patients with SCN1A mutations.
Mancardi MM, Striano P, Gennaro E, Madia F, Paravidino R, Scapolan S, Dalla Bernardina B, Bertini E, Bianchi A, Capovilla G, Darra F, Elia M, Freri E, Gobbi G, Granata T, Guerrini R, Pantaleoni C, Parmeggiani A, Romeo A, Santucci M, Vecchi M, Veggiotti P, Vigevano F, Pistorio A, Gaggero R, Zara F. Mancardi MM, et al. Among authors: pistorio a. Epilepsia. 2006 Oct;47(10):1629-35. doi: 10.1111/j.1528-1167.2006.00641.x. Epilepsia. 2006. PMID: 17054684 Free article.
Epilepsy associated with supratentorial brain tumors under 3 years of life.
Gaggero R, Consales A, Fazzini F, Mancardi MM, Baglietto MG, Nozza P, Rossi A, Pistorio A, Tumolo M, Cama A, Garrè ML, Striano P. Gaggero R, et al. Among authors: pistorio a. Epilepsy Res. 2009 Dec;87(2-3):184-9. doi: 10.1016/j.eplepsyres.2009.08.012. Epub 2009 Sep 23. Epilepsy Res. 2009. PMID: 19783404
CASK related disorder: Epilepsy and developmental outcome.
Giacomini T, Nuovo S, Zanni G, Mancardi MM, Cusmai R, Pepi C, Bertini E, Valente EM, Battini R, Ferrari A, Romaniello R, Zucca C, Borgatti R, Uccella S, Severino M, Striano P, Pistorio A, Prato G, De Grandis E, Nobili L, Pisciotta L. Giacomini T, et al. Among authors: pistorio a. Eur J Paediatr Neurol. 2021 Mar;31:61-69. doi: 10.1016/j.ejpn.2021.02.006. Epub 2021 Feb 19. Eur J Paediatr Neurol. 2021. PMID: 33640666
Italian cohort of Lafora disease: Clinical features, disease evolution, and genotype-phenotype correlations.
Riva A, Orsini A, Scala M, Taramasso V, Canafoglia L, d'Orsi G, Di Claudio MT, Avolio C, D'Aniello A, Elia M, Franceschetti S, Di Gennaro G, Bisulli F, Tinuper P, Tappatà M, Romeo A, Freri E, Marini C, Costa C, Sofia V, Ferlazzo E, Magaudda A, Veggiotti P, Gennaro E, Pistorio A, Minetti C, Bianchi A, Striano S, Michelucci R, Zara F, Minassian BA, Striano P; Italian League Against Epilepsy Genetic Commission. Riva A, et al. Among authors: pistorio a. J Neurol Sci. 2021 May 15;424:117409. doi: 10.1016/j.jns.2021.117409. Epub 2021 Mar 20. J Neurol Sci. 2021. PMID: 33773408 Free PMC article.
Pediatric optic neuritis and anti MOG antibodies: a cohort of Italian patients.
Giacomini T, Foiadelli T, Annovazzi P, Nosadini M, Gastaldi M, Franciotta D, Panarese C, Capris P, Camicione P, Lanteri P, De Grandis E, Prato G, Cordani R, Nobili L, Morana G, Rossi A, Pistorio A, Cellerino M, Uccelli A, Sartori S, Savasta S, Mancardi MM. Giacomini T, et al. Among authors: pistorio a. Mult Scler Relat Disord. 2020 Apr;39:101917. doi: 10.1016/j.msard.2019.101917. Epub 2019 Dec 24. Mult Scler Relat Disord. 2020. PMID: 31896061
Clinico-radiological features, molecular spectrum, and identification of prognostic factors in developmental and epileptic encephalopathy due to inosine triphosphate pyrophosphatase (ITPase) deficiency.
Scala M, Wortmann SB, Kaya N, Stellingwerff MD, Pistorio A, Glamuzina E, van Karnebeek CD, Skrypnyk C, Iwanicka-Pronicka K, Piekutowska-Abramczuk D, Ciara E, Tort F, Sheidley B, Poduri A, Jayakar P, Jayakar A, Upadia J, Walano N, Haack TB, Prokisch H, Aldhalaan H, Karimiani EG, Yildiz Y, Ceylan AC, Santiago-Sim T, Dameron A, Yang H, Toosi MB, Ashrafzadeh F, Akhondian J, Imannezhad S, Mirzadeh HS, Maqbool S, Farid A, Al-Muhaizea MA, Alshwameen MO, Aldowsari L, Alsagob M, Alyousef A, AlMass R, AlHargan A, Alwadei AH, AlRasheed MM, Colak D, Alqudairy H, Khan S, Lines MA, García Cazorla MÁ, Ribes A, Morava E, Bibi F, Haider S, Ferla MP, Taylor JC, Alsaif HS, Firdous A, Hashem M, Shashkin C, Koneev K, Kaiyrzhanov R, Efthymiou S, Genomics QS, Schmitt-Mechelke T, Ziegler A, Issa MY, Elbendary HM, Striano P, Alkuraya FS, Zaki MS, Gleeson JG, Barakat TS, Bierau J, van der Knaap MS, Maroofian R, Houlden H. Scala M, et al. Among authors: pistorio a. Hum Mutat. 2022 Mar;43(3):403-419. doi: 10.1002/humu.24326. Epub 2022 Jan 12. Hum Mutat. 2022. PMID: 34989426 Free PMC article.
335 results