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Page 1
Lipolysis and lipophagy in lipid storage myopathies.
Angelini C, Nascimbeni AC, Cenacchi G, Tasca E. Angelini C, et al. Biochim Biophys Acta. 2016 Jul;1862(7):1367-73. doi: 10.1016/j.bbadis.2016.04.008. Epub 2016 Apr 13. Biochim Biophys Acta. 2016. PMID: 27085974 Free PMC article.
Muscle MRI in neutral lipid storage disease (NLSD).
Garibaldi M, Tasca G, Diaz-Manera J, Ottaviani P, Laschena F, Pantoli D, Gerevini S, Fiorillo C, Maggi L, Tasca E, D'Amico A, Musumeci O, Toscano A, Bruno C, Massa R, Angelini C, Bertini E, Antonini G, Pennisi EM. Garibaldi M, et al. J Neurol. 2017 Jul;264(7):1334-1342. doi: 10.1007/s00415-017-8498-8. Epub 2017 May 13. J Neurol. 2017. PMID: 28503705 Free PMC article.
Generation of induced Pluripotent Stem Cells as disease modelling of NLSDM.
Tavian D, Missaglia S, Castagnetta M, Degiorgio D, Pennisi EM, Coleman RA, Dell'Era P, Mora C, Angelini C, Coviello DA. Tavian D, et al. Mol Genet Metab. 2017 May;121(1):28-34. doi: 10.1016/j.ymgme.2017.03.009. Epub 2017 Apr 3. Mol Genet Metab. 2017. PMID: 28391974 Free PMC article.
Neutral Lipid Storage Diseases: clinical/genetic features and natural history in a large cohort of Italian patients.
Pennisi EM, Arca M, Bertini E, Bruno C, Cassandrini D, D'amico A, Garibaldi M, Gragnani F, Maggi L, Massa R, Missaglia S, Morandi L, Musumeci O, Pegoraro E, Rastelli E, Santorelli FM, Tasca E, Tavian D, Toscano A, Angelini C; Italian NLSD Group. Pennisi EM, et al. Orphanet J Rare Dis. 2017 May 12;12(1):90. doi: 10.1186/s13023-017-0646-9. Orphanet J Rare Dis. 2017. PMID: 28499397 Free PMC article.