Bertini E - Search Results

1

Familial occurrence of febrile seizures and epilepsy in severe myoclonic epilepsy of infancy (SMEI) patients with SCN1A mutations.

Mancardi MM, Striano P, Gennaro E, Madia F, Paravidino R, Scapolan S, Dalla Bernardina B, Bertini E, Bianchi A, Capovilla G, Darra F, Elia M, Freri E, Gobbi G, Granata T, Guerrini R, Pantaleoni C, Parmeggiani A, Romeo A, Santucci M, Vecchi M, Veggiotti P, Vigevano F, Pistorio A, Gaggero R, Zara F. Mancardi MM, et al. Among authors: bertini e. Epilepsia. 2006 Oct;47(10):1629-35. doi: 10.1111/j.1528-1167.2006.00641.x. Epilepsia. 2006. PMID: 17054684 Free article.

2

Epilepsia partialis continua and neuronal migration anomalies.

Fusco L, Bertini E, Vigevano F. Fusco L, et al. Among authors: bertini e. Brain Dev. 1992 Sep;14(5):323-8. doi: 10.1016/s0387-7604(12)80152-5. Brain Dev. 1992. PMID: 1456388

3

Hemimegalencephaly and intractable epilepsy: benefits of hemispherectomy.

Vigevano F, Bertini E, Boldrini R, Bosman C, Claps D, di Capua M, di Rocco C, Rossi GF. Vigevano F, et al. Among authors: bertini e. Epilepsia. 1989 Nov-Dec;30(6):833-43. doi: 10.1111/j.1528-1157.1989.tb05347.x. Epilepsia. 1989. PMID: 2591346

4

Familial severe myoclonic epilepsy of infancy: truncation of Nav1.1 and genetic heterogeneity.

Gennaro E, Veggiotti P, Malacarne M, Madia F, Cecconi M, Cardinali S, Cassetti A, Cecconi I, Bertini E, Bianchi A, Gobbi G, Zara F. Gennaro E, et al. Among authors: bertini e. Epileptic Disord. 2003 Mar;5(1):21-5. Epileptic Disord. 2003. PMID: 12773292 Free article.

5

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: bertini e. Neurology. 2003 Jun 24;60(12):1961-7. doi: 10.1212/01.wnl.0000069463.41870.2f. Neurology. 2003. PMID: 12821740

6

Somatic and germline mosaicisms in severe myoclonic epilepsy of infancy.

Gennaro E, Santorelli FM, Bertini E, Buti D, Gaggero R, Gobbi G, Lini M, Granata T, Freri E, Parmeggiani A, Striano P, Veggiotti P, Cardinali S, Bricarelli FD, Minetti C, Zara F. Gennaro E, et al. Among authors: bertini e. Biochem Biophys Res Commun. 2006 Mar 10;341(2):489-93. doi: 10.1016/j.bbrc.2005.12.209. Epub 2006 Jan 13. Biochem Biophys Res Commun. 2006. PMID: 16430863

7

Novel mutations in CLN8 in Italian variant late infantile neuronal ceroid lipofuscinosis: Another genetic hit in the Mediterranean.

Cannelli N, Cassandrini D, Bertini E, Striano P, Fusco L, Gaggero R, Specchio N, Biancheri R, Vigevano F, Bruno C, Simonati A, Zara F, Santorelli FM. Cannelli N, et al. Among authors: bertini e. Neurogenetics. 2006 May;7(2):111-7. doi: 10.1007/s10048-005-0024-y. Epub 2006 Mar 29. Neurogenetics. 2006. PMID: 16570191

8

POMGnT1 mutations in congenital muscular dystrophy: genotype-phenotype correlation and expanded clinical spectrum.

Biancheri R, Bertini E, Falace A, Pedemonte M, Rossi A, D'Amico A, Scapolan S, Bergamino L, Petrini S, Cassandrini D, Broda P, Manfredi M, Zara F, Santorelli FM, Minetti C, Bruno C. Biancheri R, et al. Among authors: bertini e. Arch Neurol. 2006 Oct;63(10):1491-5. doi: 10.1001/archneur.63.10.1491. Arch Neurol. 2006. PMID: 17030669

9

Clinical and electrophysiological features of epilepsy in Italian patients with CLN8 mutations.

Striano P, Specchio N, Biancheri R, Cannelli N, Simonati A, Cassandrini D, Rossi A, Bruno C, Fusco L, Gaggero R, Vigevano F, Bertini E, Zara F, Santorelli FM, Striano S. Striano P, et al. Among authors: bertini e. Epilepsy Behav. 2007 Feb;10(1):187-91. doi: 10.1016/j.yebeh.2006.10.009. Epub 2006 Nov 28. Epilepsy Behav. 2007. PMID: 17129765

10

Revelation of a novel CLN5 mutation in early juvenile neuronal ceroid lipofuscinosis.

Cannelli N, Nardocci N, Cassandrini D, Morbin M, Aiello C, Bugiani M, Criscuolo L, Zara F, Striano P, Granata T, Bertini E, Simonati A, Santorelli FM. Cannelli N, et al. Among authors: bertini e. Neuropediatrics. 2007 Feb;38(1):46-9. doi: 10.1055/s-2007-981449. Neuropediatrics. 2007. PMID: 17607606

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