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Titolo Data di pubblicazione Autore(i) File
Severe dystrophinopathy in a patient with congenital hypotonia. 1-gen-1996 Cordone, G; Bado, M; Morreale, G; Pedemonte, M; Minetti, Carlo
Disruption of muscle basal lamina in congenital muscular dystrophy with merosin deficiency. 1-gen-1996 Minetti, Carlo; Bado, M; Morreale, G; Pedemonte, M; Cordone, G.
[Acute iatrogenic myopathy during treatment of status asthmaticus. Our experience and review of the literature]. 1-gen-1997 Pacini, D; Ferretti, M; Carletti, A; Cerana, M; De Rito, M; Doveri, A; Abbruzzese, M; Primavera, A; Minetti, Carlo
Primary adrenal insufficiency in a child with a mitochondrial DNA deletion. 1-gen-1998 Bruno, C; Minetti, Carlo; Tang, Y; Magalhães, Pj; Santorelli, Fm; Shanske, S; Bado, M; Cordone, G; Gatti, R; Dimauro, S.
Very-long-chain acyl-coenzyme A dehydrogenase deficiency in a child with recurrent myoglobinuria. 1-gen-1998 Minetti, Carlo; Garavaglia, B; Bado, M; Invernizzi, F; Bruno, C; Rimoldi, M; Pons, R; Taroni, F; Cordone, G.
Apoptotic myonuclei in human Duchenne muscular dystrophy 1-gen-1998 Sandri, M; Minetti, Carlo; Pedemonte, M; Carraro, U.
Combined defects of muscle phosphofructokinase and AMP deaminase in a child with myoglobinuria. 1-gen-1998 Bruno, C; Minetti, Carlo; Shanske, S; Morreale, G; Bado, M; Cordone, G; Dimauro, S.
Disorganization of dystrophin costameric lattice in Becker muscular dystrophy. 1-gen-1998 Minetti, Carlo; Cordone, G; Beltrame, F; Bado, M; Bonilla, E.
Molecular genetics of the caveolin gene family: Implications for human cancers, Diabetes, Alzheimer disease, and muscular dystrophy 1-gen-1998 Engelman, Ja; Zhang, X; Galbiati, F; Volont, D; Sotgia, F; Pestell, Rg; Minetti, Carlo; Scherer, Pe; Okamoto, T; Lisanti, Mp
Mutations in the caveolin-3 gene cause autosomal dominant limb-girdle muscular dystrophy. 1-gen-1998 Minetti, Carlo; Sotgia, F; Bruno, C; Scartezzini, P; Broda, P; Bado, M; Masetti, E; Mazzocco, M; Egeo, A; Donati, Ma; Volonté, D; Galbiati, F; Cordone, G; DAGNA BRICARELLI, F; Lisanti, Mp; Zara, F.
Forearm semi-ischemic exercise test in pediatric patients. 1-gen-1998 Bruno, C; Bado, M; Minetti, Carlo; Cordone, G.
Increased number of caveolae and caveolin-3 over-expression in Duchenne muscular dystrophy 1-gen-1999 Repetto, S; Bado, M; Broda, P; Lucania, G; Masetti, E; Sotgia, F; Carbone, I; Pavan, A; Bonilla, E; Cordone, G; Lisanti, Mp; Minetti, Carlo
Localization of the human caveolin-3 gene to the 3S18,D3S4163/D3S4539 locus (3p25), in close proximity to the human oxytocin receptor gene. Identification of the caveolin-3 gene as a candidate for deletion in 3p-syndrome. 1-gen-1999 Sotgia, F; Minetti, Carlo; Lisanti, Mp
A novel missense mutation in the glycogen branching enzyme gene in a child with myopathy and hepatopathy. 1-gen-1999 Bruno, C; Dirocco, M; Lamba, Ld; Bado, M; Marino, C; Tsujino, S; Shanske, S; Stella, G; Minetti, Carlo; van Diggelen, Op; Dimauro, S.
Phenotypic behavior of caveolin-3 mutations that cause autosomal dominant limb girdle muscular dystrophy (LGMD-1C). Retention of lgmd-1C caveolin-3 mutants within the golgi complex 1-gen-1999 Galbiati, F; Volonte, D; Minetti, Carlo; Chu, J. B.; Lisanti, Mp
Muscular dystrophies: alterations in a limited number of cellular pathways? 1-gen-1999 Toniolo, D.; Minetti, Carlo
Clinical and genetic heterogeneity in autosomal recessive nemaline myopathy. 1-gen-1999 Wallgren Pettersson, C; Pelin, K; Hilpelä, P; Donner, K; Porfirio, B; Graziano, C; Swoboda, Kj; Fardeau, M; Urtizberea, Ja; Muntoni, F; Sewry, C; Dubowitz, V; Iannaccone, S; Minetti, Carlo; Pedemonte, M; Seri, M; Cusano, R; Lammens, M; Castagna Sloane, A; Beggs, Ah; Laing, Ng; de la Chapelle, A.
Early decrease of IIx myosin heavy chain transcripts in Duchenne muscular dystrophy. 1-gen-1999 Pedemonte, M; Sandri, C; Schiaffino, S; Minetti, Carlo
Mutation in the CAV3 gene causes partial caveolin-3 deficiency and hyperCKemia 1-gen-2000 Carbone, I; Bruno, C; Sotgia, F; Bado, M; Broda, P; Masetti, E; Pannella, A; Zara, F; DAGNA BRICARELLI, F; Cordone, G; Lisanti, Mp; Minetti, Carlo
Caveolin-3 directly interacts with the C-terminal tail of beta-dystroglycan: identification of a central WW-like domain within caveolin family members 1-gen-2000 Sotgia, F; Lee, Jk; Das, K; Bedford, M; Petrucci, Tc; Macioce, P; Sargiacomo, M; Minetti, Carlo; Sudol, M; Lisanti, Mp
Mostrati risultati da 21 a 40 di 274
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