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Page 1
Rett networked database: an integrated clinical and genetic network of Rett syndrome databases.
Grillo E, Villard L, Clarke A, Ben Zeev B, Pineda M, Bahi-Buisson N, Hryniewiecka-Jaworska A, Bienvenu T, Armstrong J, Roche-Martinez A, Mari F, Veneselli E, Russo S, Vignoli A, Pini G, Djuric M, Bisgaard AM, Mejaški Bošnjak V, Polgár N, Cogliati F, Ravn K, Pintaudi M, Melegh B, Craiu D, Djukic A, Renieri A. Grillo E, et al. Among authors: veneselli e. Hum Mutat. 2012 Jul;33(7):1031-6. doi: 10.1002/humu.22072. Epub 2012 Apr 13. Hum Mutat. 2012. PMID: 22415763 Free article.
Epilepsy in Rett syndrome--lessons from the Rett networked database.
Nissenkorn A, Levy-Drummer RS, Bondi O, Renieri A, Villard L, Mari F, Mencarelli MA, Lo Rizzo C, Meloni I, Pineda M, Armstrong J, Clarke A, Bahi-Buisson N, Mejaski BV, Djuric M, Craiu D, Djukic A, Pini G, Bisgaard AM, Melegh B, Vignoli A, Russo S, Anghelescu C, Veneselli E, Hayek J, Ben-Zeev B. Nissenkorn A, et al. Among authors: veneselli e. Epilepsia. 2015 Apr;56(4):569-76. doi: 10.1111/epi.12941. Epub 2015 Mar 19. Epilepsia. 2015. PMID: 25789914 Free article.
Epilepsy in Rett syndrome: clinical and genetic features.
Pintaudi M, Calevo MG, Vignoli A, Parodi E, Aiello F, Baglietto MG, Hayek Y, Buoni S, Renieri A, Russo S, Cogliati F, Giordano L, Canevini M, Veneselli E. Pintaudi M, et al. Among authors: veneselli e. Epilepsy Behav. 2010 Nov;19(3):296-300. doi: 10.1016/j.yebeh.2010.06.051. Epub 2010 Aug 21. Epilepsy Behav. 2010. PMID: 20728410 Free article.
Antiepileptic drugs in Rett Syndrome.
Pintaudi M, Calevo MG, Vignoli A, Baglietto MG, Hayek Y, Traverso M, Giacomini T, Giordano L, Renieri A, Russo S, Canevini M, Veneselli E. Pintaudi M, et al. Among authors: veneselli e. Eur J Paediatr Neurol. 2015 Jul;19(4):446-52. doi: 10.1016/j.ejpn.2015.02.007. Epub 2015 Mar 5. Eur J Paediatr Neurol. 2015. PMID: 25814391
Blood oxidative stress and metallothionein expression in Rett syndrome: Probing for markers.
Pintaudi M, Veneselli E, Voci A, Vignoli A, Castiglione D, Calevo MG, Grasselli E, Ragazzoni M, Cogliati F, Calzari L, Scornavacca GF, Russo S, Vergani L. Pintaudi M, et al. Among authors: veneselli e. World J Biol Psychiatry. 2016 Apr;17(3):198-209. doi: 10.3109/15622975.2015.1077990. Epub 2015 Oct 15. World J Biol Psychiatry. 2016. PMID: 26469135
Analysis of the Phenotypes in the Rett Networked Database.
Frullanti E, Papa FT, Grillo E, Clarke A, Ben-Zeev B, Pineda M, Bahi-Buisson N, Bienvenu T, Armstrong J, Roche Martinez A, Mari F, Nissenkorn A, Lo Rizzo C, Veneselli E, Russo S, Vignoli A, Pini G, Djuric M, Bisgaard AM, Ravn K, Bosnjak VM, Hayek J, Khajuria R, Montomoli B, Cogliati F, Pintaudi M, Hadzsiev K, Craiu D, Voinova V, Djukic A, Villard L, Renieri A. Frullanti E, et al. Among authors: veneselli e. Int J Genomics. 2019 Mar 27;2019:6956934. doi: 10.1155/2019/6956934. eCollection 2019. Int J Genomics. 2019. PMID: 31049350 Free PMC article.
Novel mutations in the CDKL5 gene, predicted effects and associated phenotypes.
Russo S, Marchi M, Cogliati F, Bonati MT, Pintaudi M, Veneselli E, Saletti V, Balestrini M, Ben-Zeev B, Larizza L. Russo S, et al. Among authors: veneselli e. Neurogenetics. 2009 Jul;10(3):241-50. doi: 10.1007/s10048-009-0177-1. Epub 2009 Feb 25. Neurogenetics. 2009. PMID: 19241098 Free article.
Pathogenic Variants in STXBP1 and in Genes for GABAa Receptor Subunities Cause Atypical Rett/Rett-like Phenotypes.
Cogliati F, Giorgini V, Masciadri M, Bonati MT, Marchi M, Cracco I, Gentilini D, Peron A, Savini MN, Spaccini L, Scelsa B, Maitz S, Veneselli E, Prato G, Pintaudi M, Moroni I, Vignoli A, Larizza L, Russo S. Cogliati F, et al. Among authors: veneselli e. Int J Mol Sci. 2019 Jul 24;20(15):3621. doi: 10.3390/ijms20153621. Int J Mol Sci. 2019. PMID: 31344879 Free PMC article.
Personalized therapy in a GRIN1 mutated girl with intellectual disability and epilepsy.
Papa FT, Mancardi MM, Frullanti E, Fallerini C, Della Chiara V, Zalba-Jadraque L, Baldassarri M, Gamucci A, Mari F, Veneselli E, Renieri A. Papa FT, et al. Among authors: veneselli e. Clin Dysmorphol. 2018 Jan;27(1):18-20. doi: 10.1097/MCD.0000000000000205. Clin Dysmorphol. 2018. PMID: 29194067 No abstract available.
98 results