Sfoglia per Autore
A new method for analysis of mitochondrial DNA point mutations and assess levels of heteroplasmy
2006-01-01 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.
2006-01-01 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.
Neuromuscular forms of glycogen branching enzyme deficiency.
2007-01-01 Bruno, C; Cassandrini, D; Assereto, S; Akman, Ho; Minetti, Carlo; DI MAURO, S.
Caveolin-1(-/-)- and caveolin-2(-/-)-deficient mice both display numerous skeletal muscle abnormalities, with tubular aggregate formation.
2007-01-01 Schubert, W; Sotgia, F; Cohen, Aw; Capozza, F; Bonuccelli, G; Bruno, C; Minetti, Carlo; Bonilla, E; Dimauro, S; Lisanti, Mp
POMT2 gene mutation in limb-girdle muscular dystrophy with inflammatory changes.
2007-01-01 Biancheri, R; Falace, A; Tessa, A; Pedemonte, M; Scapolan, S; Cassandrini, D; Aiello, C; Rossi, A; Broda, P; Zara, F; Santorelli, Fm; Minetti, Carlo; Bruno, C.
Gene expression profiling in the early phases of DMD: a constant molecular signature characterizes DMD muscle from early postnatal life throughout disease progression.
2007-01-01 Pescatori, M; Broccolini, A; Minetti, Carlo; Bertini, E; Bruno, C; D'Amico, A; Bernardini, C; MIRABELLA DDAGGER DDAGGER, M; Silvestri, G; Giglio, V; Modoni, A; Pedemonte, M; Tasca, G; Galluzzi, G; Mercuri, E; Tonali, Pa; Ricci, E.
Randomized, double-blind, placebo-controlled trial of phenylbutyrate in spinal muscular atrophy.
2007-01-01 Mercuri, E; Bertini, E; Messina, S; Solari, A; D'Amico, A; Angelozzi, C; Battini, R; Berardinelli, A; Boffi, P; Bruno, C; Cini, C; Colitto, F; Kinali, M; Minetti, Carlo; Mongini, T; Morandi, L; Neri, G; Orcesi, S; Pane, M; Pelliccioni, M; Pini, A; Tiziano, Fd; Villanova, M; Vita, G; Brahe, C.
The Hammersmith functional score correlates with the SMN2 copy number: A multicentric study.
2007-01-01 Tiziano, Fd; Bertini, E; Messina, S; Angelozzi, C; Pane, M; D'Amico, A; Alfieri, P; Fiori, S; Battini, R; Berardinelli, A; Boffi, P; Bruno, C; Cini, C; Minetti, Carlo; Mongini, T; Morandi, L; Orcesi, S; Pelliccioni, M; Pini, A; Villanova, M; Vita, G; Locatelli, M; Mercuri, E; Brahe, C.
Phenotypic characterization of hypomyelination and congenital cataract
2007-01-01 Biancheri, R; Zara, F; Bruno, C; Rossi, A; Bordo, L; Gazzerro, E; Sotgia, F; Pedemonte, M; Scapolan, S; Bado, M; Uziel, G; Bugiani, M; Lamba, Ld; Costa, V; Schenone, Angelo; Rozemuller, Aj; TORTORI DONATI, P; Lisanti, Mp; VAN DER KNAAP, Ms; Minetti, Carlo
Clinical and electrophysiological features of epilepsy in Italian patients with CLN8 mutations.
2007-01-01 Striano, Pasquale; Specchio, N.; Biancheri, R.; Cannelli, N.; Simonati, A.; Cassandrini, D.; Rossi, A.; Bruno, C.; Fusco, L.; Gaggero, R.; Vigevano, F.; Bertini, E.; Zara, F.; Santorelli, F. M.; Striano, S.
Null mutations and lethal congenital form of glycogen storage disease type IV
2007-01-01 Assereto, S; VAN DIGGELEN, Op; Diogo, L; Morava, E; Cassandrini, D; Carreira, I; DE BOODE, Wp; Dilling, J; Garcia, P; Henriques, M; Rebelo, O; TER LAAK, H; Minetti, Carlo; Bruno, C.
Gene symbol: GNE. Disease: Inclusion body myopathy.
2008-01-01 Bruno, C; Grandis, Marina; Cassandrini, D; Bellone, Emilia; Mandich, Paola; Gulli, Rossella
Isoprostanes in dystrophinopathy: Evidence of increased oxidative stress
2008-01-01 Grosso, S; Perrone, S; Longini, M; Bruno, C; Minetti, Carlo; Gazzolo, D; Balestri, P; Buonocore, G.
Peroxisomal acyl-CoA-oxidase deficiency: two new cases
2008-01-01 Carrozzo, R; Bellini, C; Lucioli, S; Deodato, F; Cassandrini, D; Cassanello, M; Caruso, U; Rizzo, C; Rizza, T; Napolitano, Ml; Wanders, Rj; Jakobs, C; Bruno, C; Santorelli, Fm; DIONISI VICI, C; Bonioli, Eugenio
Aquaporin-4 expression is severely reduced in human sarcoglycanopathies and dysferlinopathies.
2008-01-01 Assereto, S; Mastrototaro, M; Stringara, S; Gazzerro, E; Broda, P; Nicchia, Gp; Svelto, M; Bruno, C; Nigro, V; Lisanti, Mp; Frigeri, A; Minetti, Carlo
Caveolin-3 T78M and T78K missense mutations lead to different phenotypes in vivo and in vitro.
2008-01-01 Traverso, M; Gazzerro, E; Assereto, S; Sotgia, F; Biancheri, R; Stringara, S; Giberti, L; Pedemonte, M; Wang, X; Scapolan, S; Pasquini, E; Donati, Ma; Zara, F; Lisanti, Mp; Bruno, C; Minetti, Carlo
Clinical and genetic characterization of Chanarin-Dorfman syndrome
2008-01-01 Bruno, C; Bertini, E; DI ROCCO, M; Cassandrini, D; Ruffa, G; DE TONI, Teresina; Seri, M; Spada, M; LI VOLTI, G; D'Amico, A; Trucco, F; Arca, M; Casali, C; Angelini, C; Dimauro, S; Minetti, Carlo
Hypomyelination and Congenital Cataract: Neuroimaging Features of a Novel Inherited White Matter Disorder
2008-01-01 Rossi, A; Biancheri, R; Zara, F; Bruno, C; Uziel, G; VAN DER KNAAP, Ms; Minetti, Carlo; TORTORI DONATI, P.
Truncation of Caveolin-3 causes autosomal-recessive Rippling Muscle Disease
2008-01-01 Traverso, M; Bruno, C; Broccolini, A; Sotgia, F; Donati, Ma; Assereto, S; Gazzerro, E; LO MONACO, M; Modoni, A; D'Amico, A; Gasperini, S; Ricci, E; Zara, F; Lisanti, M; Minetti, Carlo
Congenital muscular dystrophies with defective glycosylation of dystroglycan. A population study.
2009-01-01 Mercuri, E; Messina, S; Bruno, C; Mora, M; Pegoraro, E; Comi, Gp; D'Amico, A; Aiello, C; Biancheri, R; Berardinelli, A; Boffi, P; Cassandrini, D; Laverda, A; Moggio, M; Morandi, L; Moroni, I; Pane, M; Pezzani, R; Pichiecchio, A; Pini, A; Minetti, Carlo; Mongini, T; Mottarelli, E; Ricci, E; Ruggieri, A; Saredi, S; Scuderi, C; Tessa, A; Toscano, A; Tortorella, G; Trevisan, Cp; Uggetti, C; Vasco, G; Santorelli, Fm; Bertini, E.
Titolo | Data di pubblicazione | Autore(i) | File |
---|---|---|---|
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. | |
Neuromuscular forms of glycogen branching enzyme deficiency. | 1-gen-2007 | Bruno, C; Cassandrini, D; Assereto, S; Akman, Ho; Minetti, Carlo; DI MAURO, S. | |
Caveolin-1(-/-)- and caveolin-2(-/-)-deficient mice both display numerous skeletal muscle abnormalities, with tubular aggregate formation. | 1-gen-2007 | Schubert, W; Sotgia, F; Cohen, Aw; Capozza, F; Bonuccelli, G; Bruno, C; Minetti, Carlo; Bonilla, E; Dimauro, S; Lisanti, Mp | |
POMT2 gene mutation in limb-girdle muscular dystrophy with inflammatory changes. | 1-gen-2007 | Biancheri, R; Falace, A; Tessa, A; Pedemonte, M; Scapolan, S; Cassandrini, D; Aiello, C; Rossi, A; Broda, P; Zara, F; Santorelli, Fm; Minetti, Carlo; Bruno, C. | |
Gene expression profiling in the early phases of DMD: a constant molecular signature characterizes DMD muscle from early postnatal life throughout disease progression. | 1-gen-2007 | Pescatori, M; Broccolini, A; Minetti, Carlo; Bertini, E; Bruno, C; D'Amico, A; Bernardini, C; MIRABELLA DDAGGER DDAGGER, M; Silvestri, G; Giglio, V; Modoni, A; Pedemonte, M; Tasca, G; Galluzzi, G; Mercuri, E; Tonali, Pa; Ricci, E. | |
Randomized, double-blind, placebo-controlled trial of phenylbutyrate in spinal muscular atrophy. | 1-gen-2007 | Mercuri, E; Bertini, E; Messina, S; Solari, A; D'Amico, A; Angelozzi, C; Battini, R; Berardinelli, A; Boffi, P; Bruno, C; Cini, C; Colitto, F; Kinali, M; Minetti, Carlo; Mongini, T; Morandi, L; Neri, G; Orcesi, S; Pane, M; Pelliccioni, M; Pini, A; Tiziano, Fd; Villanova, M; Vita, G; Brahe, C. | |
The Hammersmith functional score correlates with the SMN2 copy number: A multicentric study. | 1-gen-2007 | Tiziano, Fd; Bertini, E; Messina, S; Angelozzi, C; Pane, M; D'Amico, A; Alfieri, P; Fiori, S; Battini, R; Berardinelli, A; Boffi, P; Bruno, C; Cini, C; Minetti, Carlo; Mongini, T; Morandi, L; Orcesi, S; Pelliccioni, M; Pini, A; Villanova, M; Vita, G; Locatelli, M; Mercuri, E; Brahe, C. | |
Phenotypic characterization of hypomyelination and congenital cataract | 1-gen-2007 | Biancheri, R; Zara, F; Bruno, C; Rossi, A; Bordo, L; Gazzerro, E; Sotgia, F; Pedemonte, M; Scapolan, S; Bado, M; Uziel, G; Bugiani, M; Lamba, Ld; Costa, V; Schenone, Angelo; Rozemuller, Aj; TORTORI DONATI, P; Lisanti, Mp; VAN DER KNAAP, Ms; Minetti, Carlo | |
Clinical and electrophysiological features of epilepsy in Italian patients with CLN8 mutations. | 1-gen-2007 | Striano, Pasquale; Specchio, N.; Biancheri, R.; Cannelli, N.; Simonati, A.; Cassandrini, D.; Rossi, A.; Bruno, C.; Fusco, L.; Gaggero, R.; Vigevano, F.; Bertini, E.; Zara, F.; Santorelli, F. M.; Striano, S. | |
Null mutations and lethal congenital form of glycogen storage disease type IV | 1-gen-2007 | Assereto, S; VAN DIGGELEN, Op; Diogo, L; Morava, E; Cassandrini, D; Carreira, I; DE BOODE, Wp; Dilling, J; Garcia, P; Henriques, M; Rebelo, O; TER LAAK, H; Minetti, Carlo; Bruno, C. | |
Gene symbol: GNE. Disease: Inclusion body myopathy. | 1-gen-2008 | Bruno, C; Grandis, Marina; Cassandrini, D; Bellone, Emilia; Mandich, Paola; Gulli, Rossella | |
Isoprostanes in dystrophinopathy: Evidence of increased oxidative stress | 1-gen-2008 | Grosso, S; Perrone, S; Longini, M; Bruno, C; Minetti, Carlo; Gazzolo, D; Balestri, P; Buonocore, G. | |
Peroxisomal acyl-CoA-oxidase deficiency: two new cases | 1-gen-2008 | Carrozzo, R; Bellini, C; Lucioli, S; Deodato, F; Cassandrini, D; Cassanello, M; Caruso, U; Rizzo, C; Rizza, T; Napolitano, Ml; Wanders, Rj; Jakobs, C; Bruno, C; Santorelli, Fm; DIONISI VICI, C; Bonioli, Eugenio | |
Aquaporin-4 expression is severely reduced in human sarcoglycanopathies and dysferlinopathies. | 1-gen-2008 | Assereto, S; Mastrototaro, M; Stringara, S; Gazzerro, E; Broda, P; Nicchia, Gp; Svelto, M; Bruno, C; Nigro, V; Lisanti, Mp; Frigeri, A; Minetti, Carlo | |
Caveolin-3 T78M and T78K missense mutations lead to different phenotypes in vivo and in vitro. | 1-gen-2008 | Traverso, M; Gazzerro, E; Assereto, S; Sotgia, F; Biancheri, R; Stringara, S; Giberti, L; Pedemonte, M; Wang, X; Scapolan, S; Pasquini, E; Donati, Ma; Zara, F; Lisanti, Mp; Bruno, C; Minetti, Carlo | |
Clinical and genetic characterization of Chanarin-Dorfman syndrome | 1-gen-2008 | Bruno, C; Bertini, E; DI ROCCO, M; Cassandrini, D; Ruffa, G; DE TONI, Teresina; Seri, M; Spada, M; LI VOLTI, G; D'Amico, A; Trucco, F; Arca, M; Casali, C; Angelini, C; Dimauro, S; Minetti, Carlo | |
Hypomyelination and Congenital Cataract: Neuroimaging Features of a Novel Inherited White Matter Disorder | 1-gen-2008 | Rossi, A; Biancheri, R; Zara, F; Bruno, C; Uziel, G; VAN DER KNAAP, Ms; Minetti, Carlo; TORTORI DONATI, P. | |
Truncation of Caveolin-3 causes autosomal-recessive Rippling Muscle Disease | 1-gen-2008 | Traverso, M; Bruno, C; Broccolini, A; Sotgia, F; Donati, Ma; Assereto, S; Gazzerro, E; LO MONACO, M; Modoni, A; D'Amico, A; Gasperini, S; Ricci, E; Zara, F; Lisanti, M; Minetti, Carlo | |
Congenital muscular dystrophies with defective glycosylation of dystroglycan. A population study. | 1-gen-2009 | Mercuri, E; Messina, S; Bruno, C; Mora, M; Pegoraro, E; Comi, Gp; D'Amico, A; Aiello, C; Biancheri, R; Berardinelli, A; Boffi, P; Cassandrini, D; Laverda, A; Moggio, M; Morandi, L; Moroni, I; Pane, M; Pezzani, R; Pichiecchio, A; Pini, A; Minetti, Carlo; Mongini, T; Mottarelli, E; Ricci, E; Ruggieri, A; Saredi, S; Scuderi, C; Tessa, A; Toscano, A; Tortorella, G; Trevisan, Cp; Uggetti, C; Vasco, G; Santorelli, Fm; Bertini, E. |
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