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Molecular Genetics and Interferon Signature in the Italian Aicardi Goutières Syndrome Cohort: Report of 12 New Cases and Literature Review.
Garau J, Cavallera V, Valente M, Tonduti D, Sproviero D, Zucca S, Battaglia D, Battini R, Bertini E, Cappanera S, Chiapparini L, Crasà C, Crichiutti G, Dalla Giustina E, D'Arrigo S, De Giorgis V, De Simone M, Galli J, La Piana R, Messana T, Moroni I, Nardocci N, Panteghini C, Parazzini C, Pichiecchio A, Pini A, Ricci F, Saletti V, Salvatici E, Santorelli FM, Sartori S, Tinelli F, Uggetti C, Veneselli E, Zorzi G, Garavaglia B, Fazzi E, Orcesi S, Cereda C. Garau J, et al. Among authors: veneselli e. J Clin Med. 2019 May 26;8(5):750. doi: 10.3390/jcm8050750. J Clin Med. 2019. PMID: 31130681 Free PMC article.
The relationship between group A streptococcal infections and Tourette syndrome: a study on a large service-based cohort.
Martino D, Chiarotti F, Buttiglione M, Cardona F, Creti R, Nardocci N, Orefici G, Veneselli E, Rizzo R; Italian Tourette Syndrome Study Group. Martino D, et al. Among authors: veneselli e. Dev Med Child Neurol. 2011 Oct;53(10):951-7. doi: 10.1111/j.1469-8749.2011.04018.x. Epub 2011 Jun 17. Dev Med Child Neurol. 2011. PMID: 21679362 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.
White matter and cerebellar involvement in alternating hemiplegia of childhood.
Severino M, Pisciotta L, Tortora D, Toselli B, Stagnaro M, Cordani R, Morana G, Zicca A, Kotzeva S, Zanaboni C, Montobbio G, Rossi A, De Grandis E; IBAHC Consortium. Severino M, et al. J Neurol. 2020 May;267(5):1300-1311. doi: 10.1007/s00415-020-09698-3. Epub 2020 Jan 16. J Neurol. 2020. PMID: 31950366
Variant late infantile neuronal ceroid lipofuscinosis because of CLN1 mutations.
Simonati A, Tessa A, Bernardina BD, Biancheri R, Veneselli E, Tozzi G, Bonsignore M, Grosso S, Piemonte F, Santorelli FM. Simonati A, et al. Among authors: veneselli e. Pediatr Neurol. 2009 Apr;40(4):271-6. doi: 10.1016/j.pediatrneurol.2008.10.018. Pediatr Neurol. 2009. PMID: 19302939
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.
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