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The α2B-adrenergic receptor is mutant in cortical myoclonus and epilepsy.
De Fusco M, Vago R, Striano P, Di Bonaventura C, Zara F, Mei D, Kim MS, Muallem S, Chen Y, Wang Q, Guerrini R, Casari G. De Fusco M, et al. Among authors: guerrini r. Ann Neurol. 2014 Jan;75(1):77-87. doi: 10.1002/ana.24028. Epub 2014 Jan 2. Ann Neurol. 2014. PMID: 24114805 Free PMC article.
Cortical myoclonus in Angelman syndrome.
Guerrini R, De Lorey TM, Bonanni P, Moncla A, Dravet C, Suisse G, Livet MO, Bureau M, Malzac P, Genton P, Thomas P, Sartucci F, Simi P, Serratosa JM. Guerrini R, et al. Ann Neurol. 1996 Jul;40(1):39-48. doi: 10.1002/ana.410400109. Ann Neurol. 1996. PMID: 8687190
Cortical reflex myoclonus in Rett syndrome.
Guerrini R, Bonanni P, Parmeggiani L, Santucci M, Parmeggiani A, Sartucci F. Guerrini R, et al. Ann Neurol. 1998 Apr;43(4):472-9. doi: 10.1002/ana.410430410. Ann Neurol. 1998. PMID: 9546328
Bilateral perisylvian polymicrogyria in three generations.
Borgatti R, Triulzi F, Zucca C, Piccinelli P, Balottin U, Carrozzo R, Guerrini R. Borgatti R, et al. Among authors: guerrini r. Neurology. 1999 Jun 10;52(9):1910-3. doi: 10.1212/wnl.52.9.1910. Neurology. 1999. PMID: 10371547
Spectrum of SCN1A mutations in severe myoclonic epilepsy of infancy.
Nabbout R, Gennaro E, Dalla Bernardina B, Dulac O, Madia F, Bertini E, Capovilla G, Chiron C, Cristofori G, Elia M, Fontana E, Gaggero R, Granata T, Guerrini R, Loi M, La Selva L, Lispi ML, Matricardi A, Romeo A, Tzolas V, Valseriati D, Veggiotti P, Vigevano F, Vallée L, Dagna Bricarelli F, Bianchi A, Zara F. Nabbout R, et al. Among authors: guerrini r. Neurology. 2003 Jun 24;60(12):1961-7. doi: 10.1212/01.wnl.0000069463.41870.2f. Neurology. 2003. PMID: 12821740
1,077 results