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Page 1
Progressive myoclonus epilepsies due to SEMA6B mutations. New variants and appraisal of published phenotypes.
Castellotti B, Canafoglia L, Freri E, Tappatà M, Messina G, Magri S, DiFrancesco JC, Fanella M, Di Bonaventura C, Morano A, Granata T, Gellera C, Franceschetti S, Michelucci R. Castellotti B, et al. Among authors: michelucci r. Epilepsia Open. 2023 Jun;8(2):645-650. doi: 10.1002/epi4.12697. Epub 2023 Feb 9. Epilepsia Open. 2023. PMID: 36719163 Free PMC article.
Mutational analysis of EFHC1 gene in Italian families with juvenile myoclonic epilepsy.
Annesi F, Gambardella A, Michelucci R, Bianchi A, Marini C, Canevini MP, Capovilla G, Elia M, Buti D, Chifari R, Striano P, Rocca FE, Castellotti B, Cali F, Labate A, LePiane E, Besana D, Sofia V, Tabiadon G, Tortorella G, Vigliano P, Vignoli A, Beccaria F, Annesi G, Striano S, Aguglia U, Guerrini R, Quattrone A. Annesi F, et al. Among authors: michelucci r. Epilepsia. 2007 Sep;48(9):1686-1690. doi: 10.1111/j.1528-1167.2007.01173.x. Epub 2007 Jul 18. Epilepsia. 2007. PMID: 17634063 Free article.
Effects of levetiracetam on EEG abnormalities in juvenile myoclonic epilepsy.
Specchio N, Boero G, Michelucci R, Gambardella A, Giallonardo AT, Fattouch J, Di Bonaventura C, de Palo A, Ladogana M, Lamberti P, Vigevano F, La Neve A, Specchio LM. Specchio N, et al. Among authors: michelucci r. Epilepsia. 2008 Apr;49(4):663-9. doi: 10.1111/j.1528-1167.2007.01523.x. Epub 2008 Feb 5. Epilepsia. 2008. PMID: 18266754 Free article. Clinical Trial.
Autosomal dominant lateral temporal epilepsy: absence of mutations in ADAM22 and Kv1 channel genes encoding LGI1-associated proteins.
Diani E, Di Bonaventura C, Mecarelli O, Gambardella A, Elia M, Bovo G, Bisulli F, Pinardi F, Binelli S, Egeo G, Castellotti B, Striano P, Striano S, Bianchi A, Ferlazzo E, Vianello V, Coppola G, Aguglia U, Tinuper P, Giallonardo AT, Michelucci R, Nobile C. Diani E, et al. Among authors: michelucci r. Epilepsy Res. 2008 Jul;80(1):1-8. doi: 10.1016/j.eplepsyres.2008.03.001. Epub 2008 Apr 28. Epilepsy Res. 2008. PMID: 18440780
SCARB2 mutations in progressive myoclonus epilepsy (PME) without renal failure.
Dibbens LM, Michelucci R, Gambardella A, Andermann F, Rubboli G, Bayly MA, Joensuu T, Vears DF, Franceschetti S, Canafoglia L, Wallace R, Bassuk AG, Power DA, Tassinari CA, Andermann E, Lehesjoki AE, Berkovic SF. Dibbens LM, et al. Among authors: michelucci r. Ann Neurol. 2009 Oct;66(4):532-6. doi: 10.1002/ana.21765. Ann Neurol. 2009. PMID: 19847901
Clinical course and variability of non-Rasmussen, nonstroke motor and sensory epilepsia partialis continua: a European survey and analysis of 65 cases.
Mameniskiene R, Bast T, Bentes C, Canevini MP, Dimova P, Granata T, Høgenhaven H, Jakubi BJ, Marusic P, Melikyan G, Michelucci R, Mukhin KY, Oehl B, Ragona F, Rossetti AO, Rubboli G, Schubert S, Stephani U, Strobel J, Vignoli A, Zarubova J, Wolf P. Mameniskiene R, et al. Among authors: michelucci r. Epilepsia. 2011 Jun;52(6):1168-76. doi: 10.1111/j.1528-1167.2010.02974.x. Epub 2011 Feb 14. Epilepsia. 2011. PMID: 21320117 Free article.
Association of intronic variants of the KCNAB1 gene with lateral temporal epilepsy.
Busolin G, Malacrida S, Bisulli F, Striano P, Di Bonaventura C, Egeo G, Pasini E, Cianci V, Ferlazzo E, Bianchi A, Coppola G, Elia M, Mecarelli O, Gobbi G, Casellato S, Marchini M, Binelli S, Freri E, Granata T, Posar A, Parmeggiani A, Vigliano P, Boniver C, Aguglia U, Striano S, Tinuper P, Giallonardo AT, Michelucci R, Nobile C. Busolin G, et al. Among authors: michelucci r. Epilepsy Res. 2011 Mar;94(1-2):110-6. doi: 10.1016/j.eplepsyres.2011.01.010. Epub 2011 Feb 18. Epilepsy Res. 2011. PMID: 21333500
Low penetrance and effect on protein secretion of LGI1 mutations causing autosomal dominant lateral temporal epilepsy.
Di Bonaventura C, Operto FF, Busolin G, Egeo G, D'Aniello A, Vitello L, Smaniotto G, Furlan S, Diani E, Michelucci R, Giallonardo AT, Coppola G, Nobile C. Di Bonaventura C, et al. Among authors: michelucci r. Epilepsia. 2011 Jul;52(7):1258-64. doi: 10.1111/j.1528-1167.2011.03071.x. Epub 2011 Apr 19. Epilepsia. 2011. PMID: 21504429 Free article.
219 results