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Acute quadriplegic myopathy in a 17-month-old boy.
Salviati L, Laverda AM, Zancan L, Fanin M, Angelini C, Meznaric-Petrusa M. Salviati L, et al. Among authors: angelini c. J Child Neurol. 2000 Jan;15(1):63-6. doi: 10.1177/088307380001500115. J Child Neurol. 2000. PMID: 10641615
Molecular diagnosis in LGMD2A: mutation analysis or protein testing?
Fanin M, Fulizio L, Nascimbeni AC, Spinazzi M, Piluso G, Ventriglia VM, Ruzza G, Siciliano G, Trevisan CP, Politano L, Nigro V, Angelini C. Fanin M, et al. Among authors: angelini c. Hum Mutat. 2004 Jul;24(1):52-62. doi: 10.1002/humu.20058. Hum Mutat. 2004. PMID: 15221789
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: angelini c. 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
1,026 results