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Mostrati risultati da 21 a 40 di 198
Titolo Data di pubblicazione Autore(i) File
Tubulopathy, endocrinopathies and encephalomyopathy in a child with a novel large-scale mitochondrial DNA deletion. 1-gen-2002 Bruno, C; Gandullia, P; Santorelli, Fm; Biedi, C; Carbone, I; Bado, M; Gatti, R; Minetti, Carlo
A novel mutation in the SURF1 gene in a child with Leigh disease, peripheral neuropathy, and cytochrome-c oxidase deficiency. 1-gen-2002 Bruno, C; Biancheri, R; Garavaglia, B; Biedi, C; Rossi, A; Lamba, Ld; Bado, M; Greco, M; Zeviani, M; Minetti, Carlo
Familial isolated hyperCKemia associated with a new mutation in the caveolin-3 (CAV-3) gene 1-gen-2002 Merlini, L; Carbone, I; Capanni, C; Sabatelli, P; Tortorelli, S; Sotgia, F; Lisanti, Mp; Bruno, C; Minetti, Carlo
Impairment of caveolae formation and T-system disorganization in human muscular dystrophy with caveolin-3 deficiency 1-gen-2002 Minetti, Carlo; Bado, M; Broda, P; Sotgia, F; Bruno, C; Galbiati, F; Volont, D; Lucania, G; Pavan, A; Bonilla, E; Lisanti, Mp; Cordone, G.
Clinical and neuroradiological features in two patients with Leigh syndrome and cytochrome c oxidase deficiency 1-gen-2003 Bruno, C; Pessagno, A; Rossi, A; Pedemonte, M; Assereto, S; Scapolan, S; Bado, M; Doria, L; Dirocco, M; Minetti, Carlo
Mitochondrial myopathy and respiratory failure associated with a mutation in the mitochondrial tRNA glutamic acid gene. 1-gen-2003 Bruno, C; Sacco, O; Santorelli, Fm; Assereto, S; Tonoli, E; Bado, M; Rossi, Ga; Minetti, Carlo
Progressive exercise intolerance associated with a new muscle-restricted nonsense mutation (G142X) in the mitochondrial cytochrome b gene 1-gen-2003 Bruno, C; Santorelli, Fm; Assereto, S; Tonoli, E; Tessa, A; Traverso, M; Scapolan, S; Bado, M; Tedeschi, S; Minetti, Carlo
Clinical and molecular findings in patients with giant axonal neuropathy (GAN) 1-gen-2004 Bruno, C1; Bertini, E; Federico, A; Tonoli, E; Lispi, Ml; Cassandrini, D; Pedemonte, M; Santorelli, Fm; Filocamo, M; Dotti, Mt; Schenone, Angelo; Malandrini, A; Minetti, Carlo
Congenital Myopathies 1-gen-2004 Bruno, C; Minetti, Carlo
Novel GNE mutations in Italian families with autosomal recessive hereditary inclusion-body myopathy 1-gen-2004 Broccolini, A; Ricci, E; Cassandrini, D; Gliubizzi, C; Bruno, C; Tonoli, E; Silvestri, G; Pescatori, M; Rodolico, C; Sinicropi, S; Servidei, S; Zara, F; Minetti, Carlo; Tonali, Pa; Mirabella, M.
Clinical and genetic heterogeneity of branching enzyme deficiency (glycogenosis type IV) 1-gen-2004 Bruno, C.; VAN DIGGELEN, O. P.; Cassandrini, D.; Gimpelev, M.; Giuffre, B.; Donati, M. A.; Introvini, P.; Alegria, A.; Assereto, S.; Morandi, L.; Mora, M.; Tonoli, E.; Mascelli, S.; Traverso, M.; Pasquini, E.; Bado, M.; Vilarinho, L.; VAN NOORT, G.; Mosca, F.; Dimauro, S.; Zara, F.; Minetti, Carlo
Phenotypic heterogeneity in two unrelated Danon patients associated with the same LAMP2 gene mutation. 1-gen-2005 Bertini, E; Donati, Ma; Broda, P; Cassandrini, D; Petrini, S; DIONISI VICI, C; Ballerini, L; Boldrini, R; Damico, A; Pasquini, E; Minetti, Carlo; Santorelli, Fm; Bruno, C.
Chemokine receptor CCR7 is expressed in muscle fibers in juvenile dermatomyositis 1-gen-2005 Minetti, Carlo; Gattorno, M; Repetto, S; Gregorio, A; Pedemonte, M; Assereto, S; Zara, F; Bruno, C; Martini, Alberto
A new method for analysis of mitochondrial DNA point mutations and assess levels of heteroplasmy 1-gen-2006 Cassandrini, D; Calevo, Mg; Tessa, A; Manfredi, G; Fattori, F; Meschini, Mc; Carrozzo, R; Tonoli, E; Pedemonte, M; Minetti, Carlo; Zara, F; Santorelli, Fm; Bruno, C.
Novel mutations in CLN8 in Italian variant late infantile neuronal ceroid lipofuscinosis: Another genetic hit in the Mediterranean. 1-gen-2006 Cannelli, N.; Cassandrini, D.; Bertini, E.; Striano, Pasquale; Fusco, L.; Gaggero, R.; Specchio, N.; Biancheri, R.; Vigevano, F.; Bruno, C.; Simonati, A.; Zara, F.; Santorelli, F. M.
Deficiency of hyccin, a newly identified membrane protein, causes hypomyelination and congenital cataract 1-gen-2006 ZARA F, F.; Biancheri, R.; Bruno, Claudio; Bordo, L.; Assereto, S.; Gazzerro, E.; Sotgia, F.; Wang, X. B.; Gianotti, S.; Stringara, S.; Pedemonte, M.; Uziel, G.; Rossi, A.; Schenone, Angelo; TORTORI DONATI, P.; VAN DER KNAAP, M. S.; Lisanti, M. P.; Minetti, Carlo
Mitochondrial DNA deletion in a child with mitochondrial encephalomyopathy, growth hormone deficiency and hypo-parathyroidism 1-gen-2006 Cassandrini, D; Savasta, S; Bozzola, M; Tessa, A; Pedemonte, M; Assereto, S; Stringara, S; Minetti, Carlo; Santorelli, Fm; Bruno, C.
POMGnT1 mutations in congenital muscular dystrophy: genotype-phenotype correlation and expanded clinical spectrum 1-gen-2006 Biancheri, R; Bertini, E; Falace, A; Pedemonte, M; Rossi, A; Damico, A; Scapolan, S; Bergamino, L; Petrini, S; Cassandrini, D; Broda, P; Manfredi, M; Zara, F; Santorelli, Fm; Minetti, Carlo; Bruno, C.
McArdle disease: the mutation spectrum of PYGM in a large Italian cohort 1-gen-2006 Bruno, C; Cassandrini, D; Martinuzzi, A; Toscano, A; Moggio, M; Morandi, L; Servidei, S; Mongini, T; Angelini, C; Musumeci, O; Comi, Gp; Lamperti, C; Filosto, M; Zara, F; Minetti, Carlo
Reliability of the Hammersmith functional motor scale for spinal muscular atrophy in a multicentric study. 1-gen-2006 Mercuri, E; Messina, S; Battini, R; Berardinelli, A; Boffi, P; Bono, R; Bruno, C; Carboni, N; Cini, C; Colitto, F; D'Amico, A; Minetti, Carlo; Mirabella, M; Mongini, T; Morandi, L; Dlamini, N; Orcesi, S; Pelliccioni, M; Pane, M; Pini, A; Swan, Av; Villanova, M; Vita, G; Main, M; Muntoni, F; Bertini, E.
Mostrati risultati da 21 a 40 di 198
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