AELIP

Asociación AELIP

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Publicaciones


  1. Camozzi D, D'Apice MR, Schena E, Cenni V, Columbaro M, Capanni C, Maraldi NM, Squarzoni S, Ortolani M, Novelli G, Lattanzi G. Altered chromatin organization and SUN2 localization in mandibuloacral dysplasia are rescued by drug treatment. Histochem Cell Biol. 2012 Oct;138(4):643-51.
  2. Shastry S, Simha V, Godbole K, Sbraccia P, Melancon S, Yajnik CS, Novelli G, Kroiss M, Garg A. A novel syndrome of mandibular hypoplasia, deafness, and progeroid features associated with lipodystrophy, undescended testes, and male hypogonadism. J Clin Endocrinol Metab. 2010 Oct;95(10):E192-7
  3. Garg A, Subramanyam L, Agarwal AK, Simha V, Levine B, D'Apice MR, Novelli G, Crow Y. Atypical progeroid syndrome due to heterozygous missense LMNA mutations. J Clin Endocrinol Metab. 2009 Dec;94(12):4971-83.
  4. di Masi A, D'Apice MR, Ricordy R, Tanzarella C, Novelli G. The R527H mutation in LMNA gene causes an increased sensitivity to ionizing radiation. Cell Cycle. 2008 Jul 1;7(13):2030-7.
  5. Lombardi F, Fasciglione GF, D'Apice MR, Vielle A, D'Adamo M, Sbraccia P, Marini S, Borgiani P, Coletta M, Novelli G. Increased release and activity of matrix metalloproteinase-9 in patients with mandibuloacral dysplasia type A, a rare premature ageing syndrome. Clin Genet. 2008 Oct;74(4):374-83.
  6. Meaburn KJ, Cabuy E, Bonne G, Levy N, Morris GE, Novelli G, Kill IR, Bridger JM. Primary laminopathy fibroblasts display altered genome organization and apoptosis. Aging Cell. 2007 Apr;6(2):139-53.
  7. Foisner R, Aebi U, Bonne G, Gruenbaum Y, Novelli G. 141st ENMC International Workshop inaugural meeting of the EURO-Laminopathies project "Nuclear Envelope-linked Rare Human Diseases: From Molecular Pathophysiology towards Clinical Applications", 10-12 March 2006, Naarden, The Netherlands Neuromuscul Disord. 2007 17(8):655-60.
  8. Columbaro M, Capanni C, Mattioli E, Novelli G, Parnaik VK, Squarzoni S, Maraldi NM, Lattanzi G. Rescue of heterochromatin organization in Hutchinson-Gilford progeria by drug treatment. Cell Mol Life Sci. 2005 Nov;62(22):2669-78.
  9. 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. Alterations of nuclear envelope and chromatin organization in mandibuloacral dysplasia, a rare form of laminopathy. Physiol Genomics. 2005 Oct 17;23(2):150-8.
  10. 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. Mandibuloacral dysplasia is caused by a mutation in LMNA encoding lamins A/C. Am J Hum Genet 2002;71: 426-431.
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