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A clinical and genetic study of 33 new cases with early-onset absence epilepsy.
Giordano L, Vignoli A, Accorsi P, Galli J, Pezzella M, Traverso M, Battaglia S, Baglietto MG, Beccaria F, Cerminara C, Gambara S, Del Giudice E, Crichiutti G, Bisulli F, Pinci M, Tinuper P, Briatore E, Calzolari S, Coppola A, Canevini MP, Capovilla G, Striano S, Zara F, Minetti C, Striano P. Giordano L, et al. Among authors: briatore e. Epilepsy Res. 2011 Aug;95(3):221-6. doi: 10.1016/j.eplepsyres.2011.03.017. Epub 2011 May 4. Epilepsy Res. 2011. PMID: 21546213 Free article.
An Italian consensus on the management of Lennox-Gastaut syndrome.
Riva A, Coppola A, Bonaventura CD, Elia M, Ferlazzo E, Gobbi G, Marini C, Meletti S, Romeo A, Santoro K, Verrotti A, Capovilla G, Striano P; Italian LGS Delphi Group. Riva A, et al. Seizure. 2022 Oct;101:134-140. doi: 10.1016/j.seizure.2022.07.004. Epub 2022 Jul 15. Seizure. 2022. PMID: 35981474 Free article.
Phenotypic spectrum and prevalence of INPP5E mutations in Joubert syndrome and related disorders.
Travaglini L, Brancati F, Silhavy J, Iannicelli M, Nickerson E, Elkhartoufi N, Scott E, Spencer E, Gabriel S, Thomas S, Ben-Zeev B, Bertini E, Boltshauser E, Chaouch M, Cilio MR, de Jong MM, Kayserili H, Ogur G, Poretti A, Signorini S, Uziel G, Zaki MS; International JSRD Study Group; Johnson C, Attié-Bitach T, Gleeson JG, Valente EM. Travaglini L, et al. Eur J Hum Genet. 2013 Oct;21(10):1074-8. doi: 10.1038/ejhg.2012.305. Epub 2013 Feb 6. Eur J Hum Genet. 2013. PMID: 23386033 Free PMC article.
13 results