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A recurrent de novo mutation in KCNC1 causes progressive myoclonus epilepsy.
Muona M, Berkovic SF, Dibbens LM, Oliver KL, Maljevic S, Bayly MA, Joensuu T, Canafoglia L, Franceschetti S, Michelucci R, Markkinen S, Heron SE, Hildebrand MS, Andermann E, Andermann F, Gambardella A, Tinuper P, Licchetta L, Scheffer IE, Criscuolo C, Filla A, Ferlazzo E, Ahmad J, Ahmad A, Baykan B, Said E, Topcu M, Riguzzi P, King MD, Ozkara C, Andrade DM, Engelsen BA, Crespel A, Lindenau M, Lohmann E, Saletti V, Massano J, Privitera M, Espay AJ, Kauffmann B, Duchowny M, Møller RS, Straussberg R, Afawi Z, Ben-Zeev B, Samocha KE, Daly MJ, Petrou S, Lerche H, Palotie A, Lehesjoki AE. Muona M, et al. Among authors: michelucci r. Nat Genet. 2015 Jan;47(1):39-46. doi: 10.1038/ng.3144. Epub 2014 Nov 17. Nat Genet. 2015. PMID: 25401298 Free PMC article.
Identical genetic locus for Baltic and Mediterranean myoclonus.
Malafosse A, Lehesjoki AE, Genton P, Labauge P, Durand G, Tassinari CA, Dravet C, Michelucci R, de la Chapelle A. Malafosse A, et al. Among authors: michelucci r. Lancet. 1992 May 2;339(8801):1080-1. doi: 10.1016/0140-6736(92)90667-r. Lancet. 1992. PMID: 1349105
Epileptic negative myoclonus.
Tassinari CA, Rubboli G, Parmeggiani L, Valzania F, Plasmati R, Riguzzi P, Michelucci R, Volpi L, Passarelli D, Meletti S, et al. Tassinari CA, et al. Among authors: michelucci r. Adv Neurol. 1995;67:181-97. Adv Neurol. 1995. PMID: 8848969 Review.
Unstable minisatellite expansion causing recessively inherited myoclonus epilepsy, EPM1.
Virtaneva K, D'Amato E, Miao J, Koskiniemi M, Norio R, Avanzini G, Franceschetti S, Michelucci R, Tassinari CA, Omer S, Pennacchio LA, Myers RM, Dieguez-Lucena JL, Krahe R, de la Chapelle A, Lehesjoki AE. Virtaneva K, et al. Among authors: michelucci r. Nat Genet. 1997 Apr;15(4):393-6. doi: 10.1038/ng0497-393. Nat Genet. 1997. PMID: 9090386
Lateralizing value of the auditory aura in partial seizures.
Florindo I, Bisulli F, Pittau F, Naldi I, Striano P, Striano S, Michelucci R, Testoni S, Baruzzi A, Tinuper P. Florindo I, et al. Among authors: michelucci r. Epilepsia. 2006;47 Suppl 5:68-72. doi: 10.1111/j.1528-1167.2006.00881.x. Epilepsia. 2006. PMID: 17239110 Free article.
Sudden falls due to seizure-induced cardiac asystole in drug-resistant focal epilepsy.
Rubboli G, Bisulli F, Michelucci R, Meletti S, Ribani MA, Cortelli P, Naldi I, Riguzzi P, Tassinari CA, Tinuper P. Rubboli G, et al. Among authors: michelucci r. Neurology. 2008 May 13;70(20):1933-5. doi: 10.1212/01.wnl.0000289193.89796.83. Epub 2008 Feb 6. Neurology. 2008. PMID: 18256369 No abstract available.
215 results