Nascimbeni AC - Search Results

1

Loss of calpain-3 autocatalytic activity in LGMD2A patients with normal protein expression.

Fanin M, Nascimbeni AC, Fulizio L, Trevisan CP, Meznaric-Petrusa M, Angelini C. Fanin M, et al. Among authors: nascimbeni ac. Am J Pathol. 2003 Nov;163(5):1929-36. doi: 10.1016/S0002-9440(10)63551-1. Am J Pathol. 2003. PMID: 14578192 Free PMC article.

2

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

Fanin M, Nascimbeni AC, Fulizio L, Angelini C. Fanin M, et al. Among authors: nascimbeni ac. 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. Among authors: nascimbeni ac. 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

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

Fanin M, Nascimbeni AC, Tasca E, Angelini C. Fanin M, et al. Among authors: nascimbeni ac. 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.

5

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: nascimbeni ac. Am J Pathol. 2006 Apr;168(4):1309-20. doi: 10.2353/ajpath.2006.050646. Am J Pathol. 2006. PMID: 16565504 Free PMC article.

6

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

7

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. Among authors: nascimbeni ac. 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.

8

Muscle MRI findings in patients with limb girdle muscular dystrophy with calpain 3 deficiency (LGMD2A) and early contractures.

Mercuri E, Bushby K, Ricci E, Birchall D, Pane M, Kinali M, Allsop J, Nigro V, Sáenz A, Nascimbeni A, Fulizio L, Angelini C, Muntoni F. Mercuri E, et al. Neuromuscul Disord. 2005 Feb;15(2):164-71. doi: 10.1016/j.nmd.2004.10.008. Epub 2004 Nov 26. Neuromuscul Disord. 2005. PMID: 15694138

9

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: nascimbeni ac. Hum Mutat. 2005 Jan;25(1):82-9. doi: 10.1002/humu.20119. Hum Mutat. 2005. PMID: 15580566

10

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. Among authors: nascimbeni ac. J Neuropathol Exp Neurol. 2009 Apr;68(4):383-90. doi: 10.1097/NEN.0b013e31819cd612. J Neuropathol Exp Neurol. 2009. PMID: 19287313

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