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428 results

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Page 1
Effects of the Rho GTPase-activating toxin CNF1 on fibroblasts derived from Rett syndrome patients: A pilot study.
Cittadini C, Germinario EAP, Maroccia Z, Cosentino L, Maselli V, Gambardella L, Giambenedetti M, Guidotti M, Travaglione S, Fallerini C, Renieri A, Marcillo DIE, Ricceri L, Fortini P, De Filippis B, Fiorentini C, Fabbri A. Cittadini C, et al. Among authors: renieri a. J Cell Mol Med. 2023 May;27(10):1315-1326. doi: 10.1111/jcmm.17624. Epub 2023 Apr 20. J Cell Mol Med. 2023. PMID: 37078409 Free PMC article.
Advances in Alport syndrome diagnosis using next-generation sequencing.
Artuso R, Fallerini C, Dosa L, Scionti F, Clementi M, Garosi G, Massella L, Epistolato MC, Mancini R, Mari F, Longo I, Ariani F, Renieri A, Bruttini M. Artuso R, et al. Among authors: renieri a. Eur J Hum Genet. 2012 Jan;20(1):50-7. doi: 10.1038/ejhg.2011.164. Epub 2011 Sep 7. Eur J Hum Genet. 2012. PMID: 21897443 Free PMC article.
Redox imbalance and morphological changes in skin fibroblasts in typical Rett syndrome.
Signorini C, Leoncini S, De Felice C, Pecorelli A, Meloni I, Ariani F, Mari F, Amabile S, Paccagnini E, Gentile M, Belmonte G, Zollo G, Valacchi G, Durand T, Galano JM, Ciccoli L, Renieri A, Hayek J. Signorini C, et al. Among authors: renieri a. Oxid Med Cell Longev. 2014;2014:195935. doi: 10.1155/2014/195935. Epub 2014 May 29. Oxid Med Cell Longev. 2014. PMID: 24987493 Free PMC article.
Omic Approach in Non-smoker Female with Lung Squamous Cell Carcinoma Pinpoints to Germline Susceptibility and Personalized Medicine.
Baldassarri M, Fallerini C, Cetta F, Ghisalberti M, Bellan C, Furini S, Spiga O, Crispino S, Gotti G, Ariani F, Paladini P, Renieri A, Frullanti E. Baldassarri M, et al. Among authors: renieri a. Cancer Res Treat. 2018 Apr;50(2):356-365. doi: 10.4143/crt.2017.125. Epub 2017 May 26. Cancer Res Treat. 2018. PMID: 28546520 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: renieri a. Clin Dysmorphol. 2018 Jan;27(1):18-20. doi: 10.1097/MCD.0000000000000205. Clin Dysmorphol. 2018. PMID: 29194067 No abstract available.
Low-level TP53 mutational load antecedes clonal expansion in chronic lymphocytic leukaemia.
Pinto AM, Papa FT, Frullanti E, Meloni I, Tita R, Caselli R, Fallerini C, Lopergolo D, Cetta F, Mencarelli MA, Bocchia M, Gozzetti A, Renieri A. Pinto AM, et al. Among authors: renieri a. Br J Haematol. 2019 Feb;184(4):657-659. doi: 10.1111/bjh.15147. Epub 2018 Feb 20. Br J Haematol. 2019. PMID: 29460960 Free article. No abstract available.
iPSC-derived neurons profiling reveals GABAergic circuit disruption and acetylated α-tubulin defect which improves after iHDAC6 treatment in Rett syndrome.
Landucci E, Brindisi M, Bianciardi L, Catania LM, Daga S, Croci S, Frullanti E, Fallerini C, Butini S, Brogi S, Furini S, Melani R, Molinaro A, Lorenzetti FC, Imperatore V, Amabile S, Mariani J, Mari F, Ariani F, Pizzorusso T, Pinto AM, Vaccarino FM, Renieri A, Campiani G, Meloni I. Landucci E, et al. Among authors: renieri a. Exp Cell Res. 2018 Jul 15;368(2):225-235. doi: 10.1016/j.yexcr.2018.05.001. Epub 2018 May 4. Exp Cell Res. 2018. PMID: 29730163 Free PMC article.
Non-collagen genes role in digenic Alport syndrome.
Daga S, Fallerini C, Furini S, Pecoraro C, Scolari F, Ariani F, Bruttini M, Mencarelli MA, Mari F, Renieri A, Pinto AM. Daga S, et al. Among authors: renieri a. BMC Nephrol. 2019 Feb 26;20(1):70. doi: 10.1186/s12882-019-1258-5. BMC Nephrol. 2019. PMID: 30808327 Free PMC article.
428 results