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Progressive myoclonus epilepsies-Residual unsolved cases have marked genetic heterogeneity including dolichol-dependent protein glycosylation pathway genes.
Courage C, Oliver KL, Park EJ, Cameron JM, Grabińska KA, Muona M, Canafoglia L, Gambardella A, Said E, Afawi Z, Baykan B, Brandt C, di Bonaventura C, Chew HB, Criscuolo C, Dibbens LM, Castellotti B, Riguzzi P, Labate A, Filla A, Giallonardo AT, Berecki G, Jackson CB, Joensuu T, Damiano JA, Kivity S, Korczyn A, Palotie A, Striano P, Uccellini D, Giuliano L, Andermann E, Scheffer IE, Michelucci R, Bahlo M, Franceschetti S, Sessa WC, Berkovic SF, Lehesjoki AE. Courage C, et al. Among authors: michelucci r. Am J Hum Genet. 2021 Apr 1;108(4):722-738. doi: 10.1016/j.ajhg.2021.03.013. Am J Hum Genet. 2021. PMID: 33798445 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.
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.
Familial mesial temporal lobe epilepsy (FMTLE) : a clinical and genetic study of 15 Italian families.
Striano P, Gambardella A, Coppola A, Di Bonaventura C, Bovo G, Diani E, Boaretto F, Egeo G, Ciampa C, Labate A, Testoni S, Passarelli D, Manna I, Sferro C, Aguglia U, Caranci F, Giallonardo AT, Striano S, Nobile C, Michelucci R. Striano P, et al. Among authors: michelucci r. J Neurol. 2008 Jan;255(1):16-23. doi: 10.1007/s00415-007-0653-1. Epub 2007 Nov 21. J Neurol. 2008. PMID: 18004642
215 results