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Gain and loss of function variants in EZH1 disrupt neurogenesis and cause dominant and recessive neurodevelopmental disorders.
Gracia-Diaz C, Zhou Y, Yang Q, Maroofian R, Espana-Bonilla P, Lee CH, Zhang S, Padilla N, Fueyo R, Waxman EA, Lei S, Otrimski G, Li D, Sheppard SE, Mark P, Harr MH, Hakonarson H, Rodan L, Jackson A, Vasudevan P, Powel C, Mohammed S, Maddirevula S, Alzaidan H, Faqeih EA, Efthymiou S, Turchetti V, Rahman F, Maqbool S, Salpietro V, Ibrahim SH, di Rosa G, Houlden H, Alharbi MN, Al-Sannaa NA, Bauer P, Zifarelli G, Estaras C, Hurst ACE, Thompson ML, Chassevent A, Smith-Hicks CL, de la Cruz X, Holtz AM, Elloumi HZ, Hajianpour MJ, Rieubland C, Braun D, Banka S; Genomic England Research Consortium; French DL, Heller EA, Saade M, Song H, Ming GL, Alkuraya FS, Agrawal PB, Reinberg D, Bhoj EJ, Martínez-Balbás MA, Akizu N. Gracia-Diaz C, et al. Among authors: di rosa g. Nat Commun. 2023 Jul 11;14(1):4109. doi: 10.1038/s41467-023-39645-5. Nat Commun. 2023. PMID: 37433783 Free PMC article.
Status gelasticus associated with levetiracetam as add-on treatment.
Pustorino G, Spano M, Sgro DL, Di Rosa G, Tricomi G, Bellantone D, Tortorella G. Pustorino G, et al. Among authors: di rosa g. Epileptic Disord. 2007 Jun;9(2):186-9. doi: 10.1684/epd.2007.0102. Epileptic Disord. 2007. PMID: 17525032 Free article.
Oxidative stress in obesity: a critical component in human diseases.
Marseglia L, Manti S, D'Angelo G, Nicotera A, Parisi E, Di Rosa G, Gitto E, Arrigo T. Marseglia L, et al. Among authors: di rosa g. Int J Mol Sci. 2014 Dec 26;16(1):378-400. doi: 10.3390/ijms16010378. Int J Mol Sci. 2014. PMID: 25548896 Free PMC article. Review.
133 results