Spinazzi M - Search Results

1

Optimization of respiratory chain enzymatic assays in muscle for the diagnosis of mitochondrial disorders.

Spinazzi M, Casarin A, Pertegato V, Ermani M, Salviati L, Angelini C. Spinazzi M, et al. Mitochondrion. 2011 Nov;11(6):893-904. doi: 10.1016/j.mito.2011.07.006. Epub 2011 Aug 9. Mitochondrion. 2011. PMID: 21855655

2

Assessment of mitochondrial respiratory chain enzymatic activities on tissues and cultured cells.

Spinazzi M, Casarin A, Pertegato V, Salviati L, Angelini C. Spinazzi M, et al. Nat Protoc. 2012 May 31;7(6):1235-46. doi: 10.1038/nprot.2012.058. Nat Protoc. 2012. PMID: 22653162

3

Impaired copper and iron metabolism in blood cells and muscles of patients affected by copper deficiency myeloneuropathy.

Spinazzi M, Sghirlanzoni A, Salviati L, Angelini C. Spinazzi M, et al. Neuropathol Appl Neurobiol. 2014 Dec;40(7):888-98. doi: 10.1111/nan.12111. Neuropathol Appl Neurobiol. 2014. PMID: 24708542

4

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. 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

5

Primary coenzyme Q10 deficiency presenting as fatal neonatal multiorgan failure.

Desbats MA, Vetro A, Limongelli I, Lunardi G, Casarin A, Doimo M, Spinazzi M, Angelini C, Cenacchi G, Burlina A, Rodriguez Hernandez MA, Chiandetti L, Clementi M, Trevisson E, Navas P, Zuffardi O, Salviati L. Desbats MA, et al. Among authors: spinazzi m. Eur J Hum Genet. 2015 Sep;23(9):1254-8. doi: 10.1038/ejhg.2014.277. Epub 2015 Jan 7. Eur J Hum Genet. 2015. PMID: 25564041 Free PMC article.

6

Mitochondrial disorders of the nuclear genome.

Angelini C, Bello L, Spinazzi M, Ferrati C. Angelini C, et al. Among authors: spinazzi m. Acta Myol. 2009 Jul;28(1):16-23. Acta Myol. 2009. PMID: 19772191 Free PMC article.

7

Subacute sensory ataxia and optic neuropathy with thiamine deficiency.

Spinazzi M, Angelini C, Patrini C. Spinazzi M, et al. Nat Rev Neurol. 2010 May;6(5):288-93. doi: 10.1038/nrneurol.2010.16. Epub 2010 Mar 23. Nat Rev Neurol. 2010. PMID: 20308997

8

Correlations between clinical severity, genotype and muscle pathology in limb girdle muscular dystrophy type 2A.

Fanin M, Nardetto L, Nascimbeni AC, Tasca E, Spinazzi M, Padoan R, Angelini C. Fanin M, et al. Among authors: spinazzi m. J Med Genet. 2007 Oct;44(10):609-14. doi: 10.1136/jmg.2007.050328. Epub 2007 May 25. J Med Genet. 2007. PMID: 17526799 Free PMC article.

9

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: spinazzi m. Hum Mutat. 2004 Jul;24(1):52-62. doi: 10.1002/humu.20058. Hum Mutat. 2004. PMID: 15221789

10

Generalized lysosome-associated membrane protein-2 defect explains multisystem clinical involvement and allows leukocyte diagnostic screening in Danon disease.

Fanin M, Nascimbeni AC, Fulizio L, Spinazzi M, Melacini P, Angelini C. Fanin M, et al. Among authors: spinazzi m. Am J Pathol. 2006 Apr;168(4):1309-20. doi: 10.2353/ajpath.2006.050646. Am J Pathol. 2006. PMID: 16565504 Free PMC article.

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