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Myoclonus epilepsy, retinitis pigmentosa, leukoencephalopathy and cerebral calcifications associated with a novel m.5513G>A mutation in the MT-TW gene.
Cardaioli E, Mignarri A, Cantisani TA, Malandrini A, Nesti C, Rubegni A, Funel N, Federico A, Santorelli FM, Dotti MT. Cardaioli E, et al. Among authors: cantisani ta. Biochem Biophys Res Commun. 2018 Jun 2;500(2):158-162. doi: 10.1016/j.bbrc.2018.04.009. Epub 2018 Apr 13. Biochem Biophys Res Commun. 2018. PMID: 29625105
Discordant manifestations in Italian brothers with GNE myopathy.
Dotti MT, Malandrini A, Lornage X, Mignarri A, Cantisani TA, Bohm J, Laporte J, Malfatti E. Dotti MT, et al. Among authors: cantisani ta. J Neurol Sci. 2018 Mar 15;386:1-3. doi: 10.1016/j.jns.2018.01.002. Epub 2018 Jan 5. J Neurol Sci. 2018. PMID: 29406958 No abstract available.
Progressive Myoclonus Epilepsies: Diagnostic Yield With Next-Generation Sequencing in Previously Unsolved Cases.
Canafoglia L, Franceschetti S, Gambardella A, Striano P, Giallonardo AT, Tinuper P, Di Bonaventura C, Michelucci R, Ferlazzo E, Granata T, Magaudda A, Licchetta L, Filla A, La Neve A, Riguzzi P, Cantisani TA, Fanella M, Castellotti B, Gellera C, Bahlo M, Zara F, Courage C, Lehesjoki AE, Oliver KL, Berkovic SF. Canafoglia L, et al. Among authors: cantisani ta. Neurol Genet. 2021 Nov 12;7(6):e641. doi: 10.1212/NXG.0000000000000641. eCollection 2021 Dec. Neurol Genet. 2021. PMID: 34786481 Free PMC article.
Association of Variants in the SPTLC1 Gene With Juvenile Amyotrophic Lateral Sclerosis.
Johnson JO, Chia R, Miller DE, Li R, Kumaran R, Abramzon Y, Alahmady N, Renton AE, Topp SD, Gibbs JR, Cookson MR, Sabir MS, Dalgard CL, Troakes C, Jones AR, Shatunov A, Iacoangeli A, Al Khleifat A, Ticozzi N, Silani V, Gellera C, Blair IP, Dobson-Stone C, Kwok JB, Bonkowski ES, Palvadeau R, Tienari PJ, Morrison KE, Shaw PJ, Al-Chalabi A, Brown RH Jr, Calvo A, Mora G, Al-Saif H, Gotkine M, Leigh F, Chang IJ, Perlman SJ, Glass I, Scott AI, Shaw CE, Basak AN, Landers JE, Chiò A, Crawford TO, Smith BN, Traynor BJ; FALS Sequencing Consortium; American Genome Center; International ALS Genomics Consortium; and ITALSGEN Consortium; Smith BN, Ticozzi N, Fallini C, Gkazi AS, Topp SD, Scotter EL, Kenna KP, Keagle P, Tiloca C, Vance C, Troakes C, Colombrita C, King A, Pensato V, Castellotti B, Baas F, Ten Asbroek ALMA, McKenna-Yasek D, McLaughlin RL, Polak M, Asress S, Esteban-Pérez J, Stevic Z, D'Alfonso S, Mazzini L, Comi GP, Del Bo R, Ceroni M, Gagliardi S, Querin G, Bertolin C, van Rheenen W, Rademakers R, van Blitterswijk M, Lauria G, Duga S, Corti S, Cereda C, Corrado L, Sorarù G, Williams KL, Nicholson GA, Blair IP, Leblond-Manry C, Rouleau GA, Hardiman O, Morrison KE, Veldink JH, van … See abstract for full author list ➔ Johnson JO, et al. Among authors: cantisani ta. JAMA Neurol. 2021 Oct 1;78(10):1236-1248. doi: 10.1001/jamaneurol.2021.2598. JAMA Neurol. 2021. PMID: 34459874 Free PMC article.
An educational campaign about epilepsy among Italian primary school teachers. 2. The results of a focused training program.
Mecarelli O, Messina P, Capovilla G, Michelucci R, Romeo A, Beghi E; Epischool Collaborative Group of the Lega Italiana contro l'Epilessia (LICE); De Simone R, Cerquiglini A, Vecchi M, Boniver C, Monti F, Ferlazzo E, Gasparini S, Baldassarri C, Cesaroni E, Stranci G, Elia M, Severi S, Pizzanelli C, Ausserer H, Montalenti E, Pieri I, Germano M, Cantisani T, Casellato S, Pruna D. Mecarelli O, et al. Epilepsy Behav. 2015 Jan;42:93-7. doi: 10.1016/j.yebeh.2014.07.022. Epub 2014 Dec 12. Epilepsy Behav. 2015. PMID: 25500360
40 results