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856 results

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Page 1
Variant-specific changes in RAC3 function disrupt corticogenesis in neurodevelopmental phenotypes.
Scala M, Nishikawa M, Ito H, Tabata H, Khan T, Accogli A, Davids L, Ruiz A, Chiurazzi P, Cericola G, Schulte B, Monaghan KG, Begtrup A, Torella A, Pinelli M, Denommé-Pichon AS, Vitobello A, Racine C, Mancardi MM, Kiss C, Guerin A, Wu W, Gabau Vila E, Mak BC, Martinez-Agosto JA, Gorin MB, Duz B, Bayram Y, Carvalho CMB, Vengoechea JE, Chitayat D, Tan TY, Callewaert B, Kruse B, Bird LM, Faivre L, Zollino M, Biskup S; Undiagnosed Diseases Network; Telethon Undiagnosed Diseases Program; Striano P, Nigro V, Severino M, Capra V, Costain G, Nagata KI. Scala M, et al. Among authors: striano p. Brain. 2022 Sep 14;145(9):3308-3327. doi: 10.1093/brain/awac106. Brain. 2022. PMID: 35851598 Free PMC article.
Autosomal recessive progressive myoclonus epilepsy with ataxia and mental retardation.
Coppola G, Criscuolo C, De Michele G, Striano S, Barbieri F, Striano P, Perretti A, Santoro L, Brescia Morra V, Saccà F, Scarano V, D'Adamo AP, Banfi S, Gasparini P, Santorelli FM, Lehesjoki AE, Filla A. Coppola G, et al. Among authors: striano p, striano s. J Neurol. 2005 Aug;252(8):897-900. doi: 10.1007/s00415-005-0766-3. Epub 2005 Mar 8. J Neurol. 2005. PMID: 15742102
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: striano p. Epilepsia. 2006 Oct;47(10):1629-35. doi: 10.1111/j.1528-1167.2006.00641.x. Epilepsia. 2006. PMID: 17054684 Free article.
Inherited neuromyotonia: a clinical and genetic study of a family.
Falace A, Striano P, Manganelli F, Coppola A, Striano S, Minetti C, Zara F. Falace A, et al. Among authors: striano p, striano s. Neuromuscul Disord. 2007 Jan;17(1):23-7. doi: 10.1016/j.nmd.2006.09.014. Epub 2006 Nov 30. Neuromuscul Disord. 2007. PMID: 17140792
No major role for the EMX2 gene in schizencephaly.
Merello E, Swanson E, De Marco P, Akhter M, Striano P, Rossi A, Cama A, Leventer RJ, Guerrini R, Capra V, Dobyns WB. Merello E, et al. Among authors: striano p. Am J Med Genet A. 2008 May 1;146A(9):1142-50. doi: 10.1002/ajmg.a.32264. Am J Med Genet A. 2008. PMID: 18409201
Epilepsy associated with supratentorial brain tumors under 3 years of life.
Gaggero R, Consales A, Fazzini F, Mancardi MM, Baglietto MG, Nozza P, Rossi A, Pistorio A, Tumolo M, Cama A, Garrè ML, Striano P. Gaggero R, et al. Among authors: striano p. Epilepsy Res. 2009 Dec;87(2-3):184-9. doi: 10.1016/j.eplepsyres.2009.08.012. Epub 2009 Sep 23. Epilepsy Res. 2009. PMID: 19783404
856 results