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

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

3

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: fulizio l. 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

4

Morphological changes in late onset acid Maltase deficient patients with splicing gene mutation.

Angelini C, Cenacchi G, Nascimbeni AC, Fulizio L. Angelini C, et al. Among authors: fulizio l. Acta Myol. 2003 Dec;22(3):90-6. Acta Myol. 2003. PMID: 15088498

5

Extensive scanning of the calpain-3 gene broadens the spectrum of LGMD2A phenotypes.

Piluso G, Politano L, Aurino S, Fanin M, Ricci E, Ventriglia VM, Belsito A, Totaro A, Saccone V, Topaloglu H, Nascimbeni AC, Fulizio L, Broccolini A, Canki-Klain N, Comi LI, Nigro G, Angelini C, Nigro V. Piluso G, et al. Among authors: fulizio l. J Med Genet. 2005 Sep;42(9):686-93. doi: 10.1136/jmg.2004.028738. J Med Genet. 2005. PMID: 16141003 Free PMC article.

6

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: fulizio l. 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.

7

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: fulizio l. Am J Pathol. 2006 Apr;168(4):1309-20. doi: 10.2353/ajpath.2006.050646. Am J Pathol. 2006. PMID: 16565504 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. Among authors: fulizio l. 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

Characterization of a highly repeated DNA sequence family in five species of the genus Eulemur.

Ventura M, Boniotto M, Cardone MF, Fulizio L, Archidiacono N, Rocchi M, Crovella S. Ventura M, et al. Among authors: fulizio l. Gene. 2001 Sep 19;275(2):305-10. doi: 10.1016/s0378-1119(01)00653-9. Gene. 2001. PMID: 11587858

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