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Page 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: striano p. Neurol Genet. 2020 Nov 30;6(6):e528. doi: 10.1212/NXG.0000000000000528. eCollection 2020 Dec. Neurol Genet. 2020. PMID: 33659638 Free PMC article.
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: striano p. 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
Clinical and genetic findings in 26 Italian patients with Lafora disease.
Franceschetti S, Gambardella A, Canafoglia L, Striano P, Lohi H, Gennaro E, Ianzano L, Veggiotti P, Sofia V, Biondi R, Striano S, Gellera C, Annesi G, Madia F, Civitelli D, Rocca FE, Quattrone A, Avanzini G, Minassian B, Zara F. Franceschetti S, et al. Among authors: striano p, striano s. Epilepsia. 2006 Mar;47(3):640-3. doi: 10.1111/j.1528-1167.2006.00479.x. Epilepsia. 2006. PMID: 16529633 Free article.
GDAP1 mutation in autosomal recessive Charcot-Marie-Tooth with pyramidal features.
Biancheri R, Zara F, Striano P, Pedemonte M, Cassandrini D, Stringara S, Manganelli F, Santoro L, Schenone A, Bellone E, Minetti C. Biancheri R, et al. Among authors: striano p. J Neurol. 2006 Sep;253(9):1234-5. doi: 10.1007/s00415-006-0149-4. Epub 2006 Apr 10. J Neurol. 2006. PMID: 16607474 No abstract available.
Linkage analysis and disease models in benign familial infantile seizures: a study of 16 families.
Striano P, Lispi ML, Gennaro E, Madia F, Traverso M, Bordo L, Aridon P, Martinelli Boneschi F, Barone B, dalla Bernardina B, Bianchi A, Capovilla G, De Marco P, Dulac O, Gaggero R, Gambardella A, Nabbout R, Prud'homme JF, Day R, Vanadia F, Vecchi M, Veggiotti P, Vigevano F, Viri M, Minetti C, Zara F. Striano P, et al. Epilepsia. 2006 Jun;47(6):1029-34. doi: 10.1111/j.1528-1167.2006.00521.x. Epilepsia. 2006. PMID: 16822249 Free article.
856 results