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Page 1
The empowerment of translational research: lessons from laminopathies.
Benedetti S, Bernasconi P, Bertini E, Biagini E, Boriani G, Capanni C, Carboni N, Cenacchi G, Columbaro M, D'Adamo M, D'Amico A, D'Apice MR, Fontana M, Gambineri A, Lattanzi G, Liguori R, Maraldi NM, Mazzanti L, Mercuri E, Mongini T, Morandi LO, Neri I, Nigro G, Novelli G, Ortolani M, Pasquali R, Pini A, Petrini S, Politano L, Previtali S, Pucci L, Rapezzi C, Ricci G, Rodolico C, Sbraccia P, Scarano E, Siciliano G, Squarzoni S, Toscano A, Vercelli L, Ziacchi M. Benedetti S, et al. Among authors: novelli g. Orphanet J Rare Dis. 2012 Jun 12;7:37. doi: 10.1186/1750-1172-7-37. Orphanet J Rare Dis. 2012. PMID: 22691392 Free PMC article.
Mandibuloacral dysplasia is caused by a mutation in LMNA-encoding lamin A/C.
Novelli G, Muchir A, Sangiuolo F, Helbling-Leclerc A, D'Apice MR, Massart C, Capon F, Sbraccia P, Federici M, Lauro R, Tudisco C, Pallotta R, Scarano G, Dallapiccola B, Merlini L, Bonne G. Novelli G, et al. Am J Hum Genet. 2002 Aug;71(2):426-31. doi: 10.1086/341908. Epub 2002 Jun 19. Am J Hum Genet. 2002. PMID: 12075506 Free PMC article.
Somatic and gonadal mosaicism in Hutchinson-Gilford progeria.
Wuyts W, Biervliet M, Reyniers E, D'Apice MR, Novelli G, Storm K. Wuyts W, et al. Among authors: novelli g. Am J Med Genet A. 2005 May 15;135(1):66-8. doi: 10.1002/ajmg.a.30663. Am J Med Genet A. 2005. PMID: 15793835
Altered pre-lamin A processing is a common mechanism leading to lipodystrophy.
Capanni C, Mattioli E, Columbaro M, Lucarelli E, Parnaik VK, Novelli G, Wehnert M, Cenni V, Maraldi NM, Squarzoni S, Lattanzi G. Capanni C, et al. Among authors: novelli g. Hum Mol Genet. 2005 Jun 1;14(11):1489-502. doi: 10.1093/hmg/ddi158. Epub 2005 Apr 20. Hum Mol Genet. 2005. PMID: 15843404
Alterations of nuclear envelope and chromatin organization in mandibuloacral dysplasia, a rare form of laminopathy.
Filesi I, Gullotta F, Lattanzi G, D'Apice MR, Capanni C, Nardone AM, Columbaro M, Scarano G, Mattioli E, Sabatelli P, Maraldi NM, Biocca S, Novelli G. Filesi I, et al. Among authors: novelli g. Physiol Genomics. 2005 Oct 17;23(2):150-8. doi: 10.1152/physiolgenomics.00060.2005. Epub 2005 Jul 26. Physiol Genomics. 2005. PMID: 16046620 Free article.
Compound heterozygosity for mutations in LMNA in a patient with a myopathic and lipodystrophic mandibuloacral dysplasia type A phenotype.
Lombardi F, Gullotta F, Columbaro M, Filareto A, D'Adamo M, Vielle A, Guglielmi V, Nardone AM, Azzolini V, Grosso E, Lattanzi G, D'Apice MR, Masala S, Maraldi NM, Sbraccia P, Novelli G. Lombardi F, et al. Among authors: novelli g. J Clin Endocrinol Metab. 2007 Nov;92(11):4467-71. doi: 10.1210/jc.2007-0116. Epub 2007 Sep 11. J Clin Endocrinol Metab. 2007. PMID: 17848409
Drugs affecting prelamin A processing: effects on heterochromatin organization.
Mattioli E, Columbaro M, Capanni C, Santi S, Maraldi NM, D'Apice MR, Novelli G, Riccio M, Squarzoni S, Foisner R, Lattanzi G. Mattioli E, et al. Among authors: novelli g. Exp Cell Res. 2008 Feb 1;314(3):453-62. doi: 10.1016/j.yexcr.2007.11.012. Epub 2007 Nov 24. Exp Cell Res. 2008. PMID: 18093584
1,177 results