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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. J Med Genet. 2005 Sep;42(9):686-93. doi: 10.1136/jmg.2004.028738. J Med Genet. 2005. PMID: 16141003 Free PMC article.
Incomplete penetrance in limb-girdle muscular dystrophy type 1F.
Fanin M, Peterle E, Fritegotto C, Nascimbeni AC, Tasca E, Torella A, Nigro V, Angelini C. Fanin M, et al. Muscle Nerve. 2015 Aug;52(2):305-6. doi: 10.1002/mus.24539. Epub 2015 Jun 7. Muscle Nerve. 2015. PMID: 25487718 No abstract available.
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
Diagnostic value of muscle MRI in differentiating LGMD2I from other LGMDs.
Fischer D, Walter MC, Kesper K, Petersen JA, Aurino S, Nigro V, Kubisch C, Meindl T, Lochmüller H, Wilhelm K, Urbach H, Schröder R. Fischer D, et al. J Neurol. 2005 May;252(5):538-47. doi: 10.1007/s00415-005-0684-4. Epub 2005 Feb 23. J Neurol. 2005. PMID: 15726252
Early onset calpainopathy with normal non-functional calpain 3 level.
Lanzillo R, Aurino S, Fanin M, Aguennoz M, Vitale F, Fiorillo C, Del Giudice E, Nigro V, Santoro L. Lanzillo R, et al. Dev Med Child Neurol. 2006 Apr;48(4):304-6. doi: 10.1017/S001216220600065X. Dev Med Child Neurol. 2006. PMID: 16542520 Free article.