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Page 1
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: amabile s. 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.
Imbalance of excitatory/inhibitory synaptic protein expression in iPSC-derived neurons from FOXG1(+/-) patients and in foxg1(+/-) mice.
Patriarchi T, Amabile S, Frullanti E, Landucci E, Lo Rizzo C, Ariani F, Costa M, Olimpico F, W Hell J, M Vaccarino F, Renieri A, Meloni I. Patriarchi T, et al. Among authors: amabile s. Eur J Hum Genet. 2016 Jun;24(6):871-80. doi: 10.1038/ejhg.2015.216. Epub 2015 Oct 7. Eur J Hum Genet. 2016. PMID: 26443267 Free PMC article.
GluD1 is a common altered player in neuronal differentiation from both MECP2-mutated and CDKL5-mutated iPS cells.
Livide G, Patriarchi T, Amenduni M, Amabile S, Yasui D, Calcagno E, Lo Rizzo C, De Falco G, Ulivieri C, Ariani F, Mari F, Mencarelli MA, Hell JW, Renieri A, Meloni I. Livide G, et al. Among authors: amabile s. Eur J Hum Genet. 2015 Feb;23(2):195-201. doi: 10.1038/ejhg.2014.81. Epub 2014 Jun 11. Eur J Hum Genet. 2015. PMID: 24916645 Free PMC article.
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: amabile s. 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.
Altered expression of neuropeptides in FoxG1-null heterozygous mutant mice.
Frullanti E, Amabile S, Lolli MG, Bartolini A, Livide G, Landucci E, Mari F, Vaccarino FM, Ariani F, Massimino L, Renieri A, Meloni I. Frullanti E, et al. Among authors: amabile s. Eur J Hum Genet. 2016 Feb;24(2):252-7. doi: 10.1038/ejhg.2015.79. Epub 2015 May 13. Eur J Hum Genet. 2016. PMID: 25966633 Free PMC article.
Interstitial 22q13 deletions not involving SHANK3 gene: a new contiguous gene syndrome.
Disciglio V, Lo Rizzo C, Mencarelli MA, Mucciolo M, Marozza A, Di Marco C, Massarelli A, Canocchi V, Baldassarri M, Ndoni E, Frullanti E, Amabile S, Anderlid BM, Metcalfe K, Le Caignec C, David A, Fryer A, Boute O, Joris A, Greco D, Pecile V, Battini R, Novelli A, Fichera M, Romano C, Mari F, Renieri A. Disciglio V, et al. Among authors: amabile s. Am J Med Genet A. 2014 Jul;164A(7):1666-76. doi: 10.1002/ajmg.a.36513. Epub 2014 Apr 3. Am J Med Genet A. 2014. PMID: 24700646
RAI1 gene mutations: mechanisms of Smith-Magenis syndrome.
Falco M, Amabile S, Acquaviva F. Falco M, et al. Among authors: amabile s. Appl Clin Genet. 2017 Nov 3;10:85-94. doi: 10.2147/TACG.S128455. eCollection 2017. Appl Clin Genet. 2017. PMID: 29138588 Free PMC article. Review.
16 results