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Phenotypic heterogeneity in two unrelated danon patients associated with the same LAMP-2 gene mutationBERTINI, E; DONATI, M. A; MINETTI, C et al.Neuropediatrics. 2005, Vol 36, Num 5, pp 309-313, issn 0174-304X, 5 p.Article

Homozygosity for the p.K136E mutation in the SLC17A5 gene as cause of an Italian severe Salla diseaseBIANCHERI, R; ROSSI, A; VERBEEK, H. A et al.Neurogenetics (Oxford. Print). 2005, Vol 6, Num 4, pp 195-199, issn 1364-6745, 5 p.Article

Mutation in the CAV3 gene causes partial caveolin-3 deficiency and hyperCKemiaCARBONE, I; BRUNO, C; LISANTI, M. P et al.Neurology. 2000, Vol 54, Num 6, pp 1373-1376, issn 0028-3878Article

Randomized, double-blind, placebo-controlled trial of phenylbutyrate in spinal muscular atrophyMERCURI, E; BERTINI, E; CINI, C et al.Neurology. 2007, Vol 68, Num 1, pp 51-55, issn 0028-3878, 5 p.Article

Molecular genetics of the caveolin gene family : Implications for human cancers, diabetes, Alzheimer disease, and muscular dystrophyENGELMAN, J. A; XIAOLAN ZHANG; GALBIATI, F et al.American journal of human genetics. 1998, Vol 63, Num 6, pp 1578-1587, issn 0002-9297Article

Disruption of muscle basal lamina in congenital muscular dystrophy with merosin deficiencyMINETTI, C; BADO, M; MORREALE, G et al.Neurology. 1996, Vol 46, Num 5, pp 1354-1358, issn 0028-3878Article

Dystrophin deficiency in young girls with sporadic myopathy and normal karyotypeMINETTI, C; CHANG, H. W; MEDORI, R et al.Neurology. 1991, Vol 41, Num 8, pp 1288-1292, issn 0028-3878Article

A case of congenital neuromuscular disease with uniform type I fibers, abnormal mitochondrial network and jagged Z-linePELLEGRINI, G; BARBIERI, S; MOGGIO, M et al.Neuropediatrics. 1985, Vol 16, Num 3, pp 162-166, issn 0174-304XArticle

Inclusion body myopathy, Paget's disease of the bone and frontotemporal dementia : recurrence of the VCP R155H mutation in an Italian family and implications for genetic counsellingVIASSOLO, V; PREVITALI, S. C; SCHIATTI, E et al.Clinical genetics. 2008, Vol 74, Num 1, pp 54-60, issn 0009-9163, 7 p.Article

Hypomyelination and Congenital Cataract : Neuroimaging Features of a Novel Inherited White Matter DisorderROSSI, A; BIANCHERI, R; ZARA, F et al.American journal of neuroradiology. 2008, Vol 29, Num 2, pp 301-305, issn 0195-6108, 5 p.Article

Clinical and molecular findings in patients with giant axonal neuropathy (GAN)BRUNO, C; BERTINI, E; SCHENONE, A et al.Neurology. 2004, Vol 62, Num 1, pp 13-16, issn 0028-3878, 4 p.Article

Combined defects of muscle phosphofructokinase and AMP deaminase in a child with myoglobinuriaBRUNO, C; MINETTI, C; SHANSKE, S et al.Neurology. 1998, Vol 50, Num 1, pp 296-298, issn 0028-3878Article

Ubiquitin expression in acute steroid myopathy with loss of myosin thick filamentsMINETTI, C; HIRANO, M; MORREALE, G et al.Muscle & nerve. 1996, Vol 19, Num 1, pp 94-96, issn 0148-639XArticle

Dystrophinopathy in two young boys with exercise-induced cramps and myoglobinuriaMINETTI, C; TANJI, K; CHANG, H. W et al.European journal of pediatrics. 1993, Vol 152, Num 10, pp 848-851, issn 0340-6199Conference Paper

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