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Prospective Evaluation of Ghrelin and Des-Acyl Ghrelin Plasma Levels in Children with Newly Diagnosed Epilepsy: Evidence for Reduced Ghrelin-to-Des-Acyl Ghrelin Ratio in Generalized Epilepsies.
Costa AM, Lo Barco T, Spezia E, Conti V, Roli L, Marini L, Minghetti S, Caramaschi E, Pietrangelo L, Pecoraro L, D'Achille F, Accorsi P, Trenti T, Melani F, Marini C, Guerrini R, Darra F, Bergonzini P, Biagini G. Costa AM, et al. Among authors: conti v. J Pers Med. 2022 Mar 25;12(4):527. doi: 10.3390/jpm12040527. J Pers Med. 2022. PMID: 35455643 Free PMC article.
Genetic Basis of Brain Malformations.
Parrini E, Conti V, Dobyns WB, Guerrini R. Parrini E, et al. Among authors: conti v. Mol Syndromol. 2016 Sep;7(4):220-233. doi: 10.1159/000448639. Epub 2016 Aug 27. Mol Syndromol. 2016. PMID: 27781032 Free PMC article. Review.
De novo mutations of the ATP6V1A gene cause developmental encephalopathy with epilepsy.
Fassio A, Esposito A, Kato M, Saitsu H, Mei D, Marini C, Conti V, Nakashima M, Okamoto N, Olmez Turker A, Albuz B, Semerci Gündüz CN, Yanagihara K, Belmonte E, Maragliano L, Ramsey K, Balak C, Siniard A, Narayanan V; C4RCD Research Group; Ohba C, Shiina M, Ogata K, Matsumoto N, Benfenati F, Guerrini R. Fassio A, et al. Among authors: conti v. Brain. 2018 Jun 1;141(6):1703-1718. doi: 10.1093/brain/awy092. Brain. 2018. PMID: 29668857 Free PMC article.
Multiple genomic copy number variants associated with periventricular nodular heterotopia indicate extreme genetic heterogeneity.
Cellini E, Vetro A, Conti V, Marini C, Doccini V, Clementella C, Parrini E, Giglio S, Della Monica M, Fichera M, Musumeci SA, Guerrini R. Cellini E, et al. Among authors: conti v. Eur J Hum Genet. 2019 Jun;27(6):909-918. doi: 10.1038/s41431-019-0335-3. Epub 2019 Jan 25. Eur J Hum Genet. 2019. PMID: 30683929 Free PMC article. Clinical Trial.
Biallelic DMXL2 mutations impair autophagy and cause Ohtahara syndrome with progressive course.
Esposito A, Falace A, Wagner M, Gal M, Mei D, Conti V, Pisano T, Aprile D, Cerullo MS, De Fusco A, Giovedì S, Seibt A, Magen D, Polster T, Eran A, Stenton SL, Fiorillo C, Ravid S, Mayatepek E, Hafner H, Wortmann S, Levanon EY, Marini C, Mandel H, Benfenati F, Distelmaier F, Fassio A, Guerrini R. Esposito A, et al. Among authors: conti v. Brain. 2019 Dec 1;142(12):3876-3891. doi: 10.1093/brain/awz326. Brain. 2019. PMID: 31688942
492 results