Spinazzi M - Search Results

1

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.

2

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

3

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.

4

Cardioembolic stroke in Danon disease.

Spinazzi M, Fanin M, Melacini P, Nascimbeni AC, Angelini C. Spinazzi M, et al. Clin Genet. 2008 Apr;73(4):388-90. doi: 10.1111/j.1399-0004.2008.00971.x. Epub 2008 Feb 26. Clin Genet. 2008. PMID: 18312451 No abstract available.

5

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.

6

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

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

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

9

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

10

Myelo-optico-neuropathy in copper deficiency occurring after partial gastrectomy. Do small bowel bacterial overgrowth syndrome and occult zinc ingestion tip the balance?

Spinazzi M, De Lazzari F, Tavolato B, Angelini C, Manara R, Armani M. Spinazzi M, et al. J Neurol. 2007 Aug;254(8):1012-7. doi: 10.1007/s00415-006-0479-2. Epub 2007 Apr 6. J Neurol. 2007. PMID: 17415508

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