Marina Fanin
Neuromuscular Center
Department of Neurosciences
University of Padova
Padova
Italy
Name/email consistency: high
- Allelic and phenotypic heterogeneity in 49 Italian patients with the muscle form of CPT-II deficiency. Fanin, M., Anichini, A., Cassandrini, D., Fiorillo, C., Scapolan, S., Minetti, C., Cassanello, M., Donati, M.A., Siciliano, G., D'Amico, A., Lilliu, F., Bruno, C., Angelini, C. Clin. Genet. (2012)
- How to tackle the diagnosis of limb-girdle muscular dystrophy 2A. Fanin, M., Nascimbeni, A.C., Tasca, E., Angelini, C. Eur. J. Hum. Genet. (2009)
- Sarcolemmal neuronal nitric oxide synthase defect in limb-girdle muscular dystrophy: an adverse modulating factor in the disease course?. Fanin, M., Tasca, E., Nascimbeni, A.C., Angelini, C. J. Neuropathol. Exp. Neurol. (2009)
- Frequency of LGMD gene mutations in Italian patients with distinct clinical phenotypes. Fanin, M., Nascimbeni, A.C., Aurino, S., Tasca, E., Pegoraro, E., Nigro, V., Angelini, C. Neurology (2009)
- Screening of calpain-3 autolytic activity in LGMD muscle: a functional map of CAPN3 gene mutations. Fanin, M., Nascimbeni, A.C., Angelini, C. J. Med. Genet. (2007)
- Correlations between clinical severity, genotype and muscle pathology in limb girdle muscular dystrophy type 2A. Fanin, M., Nardetto, L., Nascimbeni, A.C., Tasca, E., Spinazzi, M., Padoan, R., Angelini, C. J. Med. Genet. (2007)
- Generalized lysosome-associated membrane protein-2 defect explains multisystem clinical involvement and allows leukocyte diagnostic screening in Danon disease. Fanin, M., Nascimbeni, A.C., Fulizio, L., Spinazzi, M., Melacini, P., Angelini, C. Am. J. Pathol. (2006)
- Muscle protein analysis in the detection of heterozygotes for recessive limb girdle muscular dystrophy type 2B and 2E. Fanin, M., Nascimbeni, A.C., Angelini, C. Neuromuscul. Disord. (2006)
- The frequency of limb girdle muscular dystrophy 2A in northeastern Italy. Fanin, M., Nascimbeni, A.C., Fulizio, L., Angelini, C. Neuromuscul. Disord. (2005)
- Molecular diagnosis in LGMD2A: mutation analysis or protein testing?. Fanin, M., Fulizio, L., Nascimbeni, A.C., Spinazzi, M., Piluso, G., Ventriglia, V.M., Ruzza, G., Siciliano, G., Trevisan, C.P., Politano, L., Nigro, V., Angelini, C. Hum. Mutat. (2004)
- LGMD2E patients risk developing dilated cardiomyopathy. Fanin, M., Melacini, P., Boito, C., Pegoraro, E., Angelini, C. Neuromuscul. Disord. (2003)
- Loss of calpain-3 autocatalytic activity in LGMD2A patients with normal protein expression. Fanin, M., Nascimbeni, A.C., Fulizio, L., Trevisan, C.P., Meznaric-Petrusa, M., Angelini, C. Am. J. Pathol. (2003)
- Defective assembly of sarcoglycan complex in patients with beta-sarcoglycan gene mutations. Study of aneural and innervated cultured myotubes. Fanin, M., Angelini, C. Neuropathol. Appl. Neurobiol. (2002)
- Muscle pathology in dysferlin deficiency. Fanin, M., Angelini, C. Neuropathol. Appl. Neurobiol. (2002)
