Fanin M - Search Results

1

Phenotype modulators in myophosphorylase deficiency.

Martinuzzi A, Sartori E, Fanin M, Nascimbeni A, Valente L, Angelini C, Siciliano G, Mongini T, Tonin P, Tomelleri G, Toscano A, Merlini L, Bindoff LA, Bertelli S. Martinuzzi A, et al. Among authors: fanin m. Ann Neurol. 2003 Apr;53(4):497-502. doi: 10.1002/ana.10499. Ann Neurol. 2003. PMID: 12666117

2

Molecular pathology and enzyme processing in various phenotypes of acid maltase deficiency.

Nascimbeni AC, Fanin M, Tasca E, Angelini C. Nascimbeni AC, et al. Among authors: fanin m. Neurology. 2008 Feb 19;70(8):617-26. doi: 10.1212/01.wnl.0000299892.81127.8e. Neurology. 2008. PMID: 18285536

3

Molecular characterization of myophosphorylase deficiency in a group of patients from northern Italy.

Martinuzzi A, Tsujino S, Vergani L, Schievano G, Cadaldini M, Bartoloni L, Fanin M, Siciliano G, Shanske S, DiMauro S, Angelini C. Martinuzzi A, et al. Among authors: fanin m. J Neurol Sci. 1996 Apr;137(1):14-9. doi: 10.1016/0022-510x(95)00298-g. J Neurol Sci. 1996. PMID: 9120482

4

The clinical spectrum of sarcoglycanopathies.

Angelini C, Fanin M, Freda MP, Duggan DJ, Siciliano G, Hoffman EP. Angelini C, et al. Among authors: fanin m. Neurology. 1999 Jan 1;52(1):176-9. doi: 10.1212/wnl.52.1.176. Neurology. 1999. PMID: 9921870

5

McArdle's disease. The unsolved mystery of the reappearing enzyme.

Martinuzzi A, Schievano G, Nascimbeni A, Fanin M. Martinuzzi A, et al. Among authors: fanin m. Am J Pathol. 1999 Jun;154(6):1893-7. doi: 10.1016/S0002-9440(10)65447-8. Am J Pathol. 1999. PMID: 10362816 Free PMC article.

6

Frequency of LGMD gene mutations in Italian patients with distinct clinical phenotypes.

Fanin M, Nascimbeni AC, Aurino S, Tasca E, Pegoraro E, Nigro V, Angelini C. Fanin M, et al. Neurology. 2009 Apr 21;72(16):1432-5. doi: 10.1212/WNL.0b013e3181a1885e. Neurology. 2009. PMID: 19380703

7

Expression of muscle-type phosphorylase in innervated and aneural cultured muscle of patients with myophosphorylase deficiency.

Martinuzzi A, Vergani L, Carrozzo R, Fanin M, Bartoloni L, Angelini C, Askanas V, Engel WK. Martinuzzi A, et al. Among authors: fanin m. J Clin Invest. 1993 Oct;92(4):1774-80. doi: 10.1172/JCI116766. J Clin Invest. 1993. PMID: 8408630 Free PMC article.

8

Muscle pathology in dysferlin deficiency.

Fanin M, Angelini C. Fanin M, et al. Neuropathol Appl Neurobiol. 2002 Dec;28(6):461-70. doi: 10.1046/j.1365-2990.2002.00417.x. Neuropathol Appl Neurobiol. 2002. PMID: 12445162

9

Genotype-phenotype correlations in a large series of patients with muscle type CPT II deficiency.

Anichini A, Fanin M, Vianey-Saban C, Cassandrini D, Fiorillo C, Bruno C, Angelini C. Anichini A, et al. Among authors: fanin m. Neurol Res. 2011 Jan;33(1):24-32. doi: 10.1179/016164110X12767786356390. Epub 2010 Aug 31. Neurol Res. 2011. PMID: 20810031

10

Clinical phenotype, muscle MRI and muscle pathology of LGMD1F.

Peterle E, Fanin M, Semplicini C, Padilla JJ, Nigro V, Angelini C. Peterle E, et al. Among authors: fanin m. J Neurol. 2013 Aug;260(8):2033-41. doi: 10.1007/s00415-013-6931-1. Epub 2013 Apr 30. J Neurol. 2013. PMID: 23632945

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