Zara F - Search Results

1

Genotype-phenotype correlations in patients with de novo KCNQ2 pathogenic variants.

Malerba F, Alberini G, Balagura G, Marchese F, Amadori E, Riva A, Vari MS, Gennaro E, Madia F, Salpietro V, Angriman M, Giordano L, Accorsi P, Trivisano M, Specchio N, Russo A, Gobbi G, Raviglione F, Pisano T, Marini C, Mancardi MM, Nobili L, Freri E, Castellotti B, Capovilla G, Coppola A, Verrotti A, Martelli P, Miceli F, Maragliano L, Benfenati F, Cilio MR, Johannesen KM, Møller RS, Ceulemans B, Minetti C, Weckhuysen S, Zara F, Taglialatela M, Striano P. Malerba F, et al. Among authors: zara f. Neurol Genet. 2020 Nov 30;6(6):e528. doi: 10.1212/NXG.0000000000000528. eCollection 2020 Dec. Neurol Genet. 2020. PMID: 33659638 Free PMC article.

2

Lack of SCN1A mutations in familial febrile seizures.

Malacarne M, Madia F, Gennaro E, Vacca D, Güney AI, Buono S, Bernardina BD, Gaggero R, Gobbi G, Lispi ML, Malamaci D, Melideo G, Roccella M, Sferro C, Tiberti A, Vanadia F, Vigevano F, Viri F, Vitali MR, Bricarelli FD, Bianchi A, Zara F. Malacarne M, et al. Among authors: zara f. Epilepsia. 2002 May;43(5):559-62. doi: 10.1046/j.1528-1157.2002.29301.x. Epilepsia. 2002. PMID: 12027919 Free article.

3

No evidence of GABRG2 mutations in severe myoclonic epilepsy of infancy.

Madia F, Gennaro E, Cecconi M, Buti D, Capovilla G, Dalla Bernardina B, Elia M, Ferrari A, Fontana E, Gaggero R, Giannotta M, Giordano L, Granata T, La Selva L, Luisa Lispi M, Santucci M, Vanadia F, Veggiotti P, Vigliano P, Viri M, Dagna Bricarelli F, Bianchi A, Zara F. Madia F, et al. Among authors: zara f. Epilepsy Res. 2003 Mar;53(3):196-200. doi: 10.1016/s0920-1211(03)00022-6. Epilepsy Res. 2003. PMID: 12694927

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: zara f. Epileptic Disord. 2003 Mar;5(1):21-5. Epileptic Disord. 2003. PMID: 12773292 Free article.

5

Generalized epilepsy with febrile seizures plus (GEFS+): clinical spectrum in seven Italian families unrelated to SCN1A, SCN1B, and GABRG2 gene mutations.

Bonanni P, Malcarne M, Moro F, Veggiotti P, Buti D, Ferrari AR, Parrini E, Mei D, Volzone A, Zara F, Heron SE, Bordo L, Marini C, Guerrini R. Bonanni P, et al. Among authors: zara f. Epilepsia. 2004 Feb;45(2):149-58. doi: 10.1111/j.0013-9580.2004.04303.x. Epilepsia. 2004. PMID: 14738422 Free article.

6

Benign familial neonatal-infantile seizures: characterization of a new sodium channelopathy.

Berkovic SF, Heron SE, Giordano L, Marini C, Guerrini R, Kaplan RE, Gambardella A, Steinlein OK, Grinton BE, Dean JT, Bordo L, Hodgson BL, Yamamoto T, Mulley JC, Zara F, Scheffer IE. Berkovic SF, et al. Among authors: zara f. Ann Neurol. 2004 Apr;55(4):550-7. doi: 10.1002/ana.20029. Ann Neurol. 2004. PMID: 15048894

7

Late-onset and slow-progressing Lafora disease in four siblings with EPM2B mutation.

Baykan B, Striano P, Gianotti S, Bebek N, Gennaro E, Gurses C, Zara F. Baykan B, et al. Among authors: zara f. Epilepsia. 2005 Oct;46(10):1695-7. doi: 10.1111/j.1528-1167.2005.00272.x. Epilepsia. 2005. PMID: 16190947 Free article.

8

Multiplex real-time PCR for detection of deletions and duplications in dystrophin gene.

Traverso M, Malnati M, Minetti C, Regis S, Tedeschi S, Pedemonte M, Bruno C, Biassoni R, Zara F. Traverso M, et al. Among authors: zara f. Biochem Biophys Res Commun. 2006 Jan 6;339(1):145-50. doi: 10.1016/j.bbrc.2005.11.006. Epub 2005 Nov 9. Biochem Biophys Res Commun. 2006. PMID: 16297882

9

Electroclinical and genetic findings in a family with cortical tremor, myoclonus, and epilepsy.

Striano P, Madia F, Minetti C, Striano S, Zara F. Striano P, et al. Among authors: zara f. Epilepsia. 2005 Dec;46(12):1993-5. doi: 10.1111/j.1528-1167.2005.00346.x. Epilepsia. 2005. PMID: 16393167 Free article.

10

A novel SCN2A mutation in family with benign familial infantile seizures.

Striano P, Bordo L, Lispi ML, Specchio N, Minetti C, Vigevano F, Zara F. Striano P, et al. Among authors: zara f. Epilepsia. 2006 Jan;47(1):218-20. doi: 10.1111/j.1528-1167.2006.00392.x. Epilepsia. 2006. PMID: 16417554 Free article.

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