Fanin M - Search Results

1

Molecular and muscle pathology in a series of caveolinopathy patients.

Fulizio L, Nascimbeni AC, Fanin M, Piluso G, Politano L, Nigro V, Angelini C. Fulizio L, et al. Among authors: fanin m. Hum Mutat. 2005 Jan;25(1):82-9. doi: 10.1002/humu.20119. Hum Mutat. 2005. PMID: 15580566

2

The frequency of limb girdle muscular dystrophy 2A in northeastern Italy.

Fanin M, Nascimbeni AC, Fulizio L, Angelini C. Fanin M, et al. Neuromuscul Disord. 2005 Mar;15(3):218-24. doi: 10.1016/j.nmd.2004.11.003. Epub 2005 Jan 28. Neuromuscul Disord. 2005. PMID: 15725583

3

Muscle protein analysis in the detection of heterozygotes for recessive limb girdle muscular dystrophy type 2B and 2E.

Fanin M, Nascimbeni AC, Angelini C. Fanin M, et al. Neuromuscul Disord. 2006 Nov;16(11):792-9. doi: 10.1016/j.nmd.2006.06.010. Epub 2006 Aug 23. Neuromuscul Disord. 2006. PMID: 16934466

4

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

5

How to tackle the diagnosis of limb-girdle muscular dystrophy 2A.

Fanin M, Nascimbeni AC, Tasca E, Angelini C. Fanin M, et al. Eur J Hum Genet. 2009 May;17(5):598-603. doi: 10.1038/ejhg.2008.193. Epub 2008 Oct 15. Eur J Hum Genet. 2009. PMID: 18854869 Free PMC article.

6

Sarcolemmal neuronal nitric oxide synthase defect in limb-girdle muscular dystrophy: an adverse modulating factor in the disease course?

Fanin M, Tasca E, Nascimbeni AC, Angelini C. Fanin M, et al. J Neuropathol Exp Neurol. 2009 Apr;68(4):383-90. doi: 10.1097/NEN.0b013e31819cd612. J Neuropathol Exp Neurol. 2009. PMID: 19287313

7

Transcriptional and translational effects of intronic CAPN3 gene mutations.

Nascimbeni AC, Fanin M, Tasca E, Angelini C. Nascimbeni AC, et al. Among authors: fanin m. Hum Mutat. 2010 Sep;31(9):E1658-69. doi: 10.1002/humu.21320. Hum Mutat. 2010. PMID: 20635405 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

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

10

Screening of calpain-3 autolytic activity in LGMD muscle: a functional map of CAPN3 gene mutations.

Fanin M, Nascimbeni AC, Angelini C. Fanin M, et al. J Med Genet. 2007 Jan;44(1):38-43. doi: 10.1136/jmg.2006.044859. Epub 2006 Sep 13. J Med Genet. 2007. PMID: 16971480 Free PMC article.

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