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| Auteur |
Nascimbeni AC
Articles :
The clinical course of calpainopathy (LGMD2A) and dysferlinopathy (LGMD2B)
/ Angelini C ; Nardetto L ; Borsato C ; Padoan R ; Fanin M ; Nascimbeni AC ; Tasca E.
Neurological research, 2010. - 32, 1, p. 41-46
Articles :
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.
Neurology, 2009. - 72, 16, p. 1432-1435
Articles :
How to tackle the diagnosis of limb-girdle muscular dystrophy 2A
/ Fanin M ; Nascimbeni AC ; Tasca E ; Angelini C.
European journal of human genetics, 2009. - 17, 5, p. 598-603
Articles :
Molecular pathology and enzyme processing in various phenotypes of acid maltase deficiency
/ Nascimbeni AC ; Fanin M ; Tasca E ; Angelini C.
Neurology, 2008. - 70, 8, p. 617-626
Articles :
Correlations between clinical severity, genotype and muscle pathology in LGMD2A
/ Fanin M ; Nardetto L ; Nascimbeni AC ; Tasca E ; Spinazzi M ; Padoan R ; Angelini C.
Journal of medical genetics, 2007. - 44, 10, p. 609-614
Articles :
Screening of calpain-3 autolytic activity in LGMD muscle : a functional map of CAPN3 gene mutations
/ Fanin M ; Nascimbeni AC ; Angelini C.
Journal of medical genetics, 2007. - 44, p. 38-43
Colloques :
Neuronal nitric oxide synthase (nNOS) activity and ultrastructural changes in caveolin-3 deficient muscle cause mechanical irritability(Abstract in 58th Annual Meeting of American Academy of Neurology) / Angelini C ; Fulizio L ; Nascimbeni AC ; Fanin M ; Cennacchi G. Neurology, 2006. - 66, 5, Suppl 2, p. A362
Articles :
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.
American journal of pathology, 2006. - 168, 4, p. 1309-1320
Articles :
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.
Journal of medical genetics, 2005. - 42, p. 686-693
Articles :
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.
Human mutation, 2004. - 24, 1, p. 52-62
Articles :
Morphological changes in late onset acid maltase deficient patients with splicing gene mutation
/ Angelini C ; Cenacchi G ; Nascimbeni AC ; Fulizio L.
Acta myologica, 2003. - XXII, p. 90-96 |
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