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Contribution of ultrarare variants in mTOR pathway genes to sporadic focal epilepsies.
Pippucci T, Licchetta L, Baldassari S, Marconi C, De Luise M, Myers C, Nardi E, Provini F, Cameli C, Minardi R, Bacchelli E, Giordano L, Crichiutti G, d'Orsi G, Seri M, Gasparre G, Mefford HC, Tinuper P, Bisulli F; Collaborative Group of Italian League Against Epilepsy (LICE) Genetic Commission. Pippucci T, et al. Among authors: bacchelli e. Ann Clin Transl Neurol. 2019 Feb 25;6(3):475-485. doi: 10.1002/acn3.722. eCollection 2019 Mar. Ann Clin Transl Neurol. 2019. PMID: 30911571 Free PMC article.
Integrated DNA methylation analysis identifies topographical and tumoral biomarkers in pilocytic astrocytomas.
Antonelli M, Fadda A, Loi E, Moi L, Zavattari C, Sulas P, Gentilini D, Cameli C, Bacchelli E, Badiali M, Arcella A, Morra I, Giangaspero F, Zavattari P. Antonelli M, et al. Among authors: bacchelli e. Oncotarget. 2018 Feb 12;9(17):13807-13821. doi: 10.18632/oncotarget.24480. eCollection 2018 Mar 2. Oncotarget. 2018. PMID: 29568396 Free PMC article.
Analysis of a Sardinian Multiplex Family with Autism Spectrum Disorder Points to Post-Synaptic Density Gene Variants and Identifies CAPG as a Functionally Relevant Candidate Gene.
Bacchelli E, Loi E, Cameli C, Moi L, Vega-Benedetti AF, Blois S, Fadda A, Bonora E, Mattu S, Fadda R, Chessa R, Maestrini E, Doneddu G, Zavattari P. Bacchelli E, et al. J Clin Med. 2019 Feb 7;8(2):212. doi: 10.3390/jcm8020212. J Clin Med. 2019. PMID: 30736458 Free PMC article.
An increased burden of rare exonic variants in NRXN1 microdeletion carriers is likely to enhance the penetrance for autism spectrum disorder.
Cameli C, Viggiano M, Rochat MJ, Maresca A, Caporali L, Fiorini C, Palombo F, Magini P, Duardo RC, Ceroni F, Scaduto MC, Posar A, Seri M, Carelli V, Visconti P, Bacchelli E, Maestrini E. Cameli C, et al. Among authors: bacchelli e. J Cell Mol Med. 2021 Mar;25(5):2459-2470. doi: 10.1111/jcmm.16161. Epub 2021 Jan 21. J Cell Mol Med. 2021. PMID: 33476483 Free PMC article.
51 results