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Update on polyglucosan storage diseases.
Cenacchi G, Papa V, Costa R, Pegoraro V, Marozzo R, Fanin M, Angelini C. Cenacchi G, et al. Virchows Arch. 2019 Dec;475(6):671-686. doi: 10.1007/s00428-019-02633-6. Epub 2019 Jul 30. Virchows Arch. 2019. PMID: 31363843 Review.
MYH7 gene mutation in myosin storage myopathy and scapulo-peroneal myopathy.
Pegoraro E, Gavassini BF, Borsato C, Melacini P, Vianello A, Stramare R, Cenacchi G, Angelini C. Pegoraro E, et al. Among authors: cenacchi g. Neuromuscul Disord. 2007 Apr;17(4):321-9. doi: 10.1016/j.nmd.2007.01.010. Epub 2007 Mar 2. Neuromuscul Disord. 2007. PMID: 17336526
A novel deletion in the GTPase domain of OPA1 causes defects in mitochondrial morphology and distribution, but not in function.
Spinazzi M, Cazzola S, Bortolozzi M, Baracca A, Loro E, Casarin A, Solaini G, Sgarbi G, Casalena G, Cenacchi G, Malena A, Frezza C, Carrara F, Angelini C, Scorrano L, Salviati L, Vergani L. Spinazzi M, et al. Among authors: cenacchi g. Hum Mol Genet. 2008 Nov 1;17(21):3291-302. doi: 10.1093/hmg/ddn225. Epub 2008 Aug 4. Hum Mol Genet. 2008. PMID: 18678599
Satellite cell characterization from aging human muscle.
Corbu A, Scaramozza A, Badiali-DeGiorgi L, Tarantino L, Papa V, Rinaldi R, D'Alessandro R, Zavatta M, Laus M, Lattanzi G, Cenacchi G. Corbu A, et al. Among authors: cenacchi g. Neurol Res. 2010 Feb;32(1):63-72. doi: 10.1179/174313209X385725. Neurol Res. 2010. PMID: 20092696
The role of ultrastructural examination in storage diseases.
Papa V, Tarantino L, Preda P, Badiali De Giorgi L, Fanin M, Pegoraro E, Angelini C, Cenacchi G. Papa V, et al. Among authors: cenacchi g. Ultrastruct Pathol. 2010 Oct;34(5):243-51. doi: 10.3109/01913121003780593. Ultrastruct Pathol. 2010. PMID: 20568989
249 results