Sfoglia per Autore
Glycogen branching enzyme deficiency in adult polyglucosan body disease
1993-01-01 Bruno, C.; Servidei, S.; Shanske, S.; Karpati, G.; Carpenter, S.; Mckee, D.; Barohn, R. J.; Hirano, M.; Rifai, Z.; Dimauro, S.
Caveolinopathies
1993-01-01 Bruno, C; Sotgia, F; Gazzerro, E; Minetti, Carlo; Lisanti, Mp
[Muscle phosphorylase deficiency in childhood. A case report].
1994-01-01 Bruno, C; Iester, A; Bado, M; Morreale, G; Broda, P; Minetti, Carlo; Cordone, A; Cordone, G.
[Early myoclonic encephalopathy and spinal muscular atrophy type I].
1995-01-01 Bado, M; Bruno, C; Morreale, G; Parisi, F; Minetti, Carlo; Cordone, G.
N1303K MUTATION AND DIABETES MELLITUS IN CYSTIC FIBROSIS.
1996-01-01 Cotellessa, Mario; Gazzella, M; Bruno, C; Buzzanca, C; Minicucci, Laura; Gandino, M; Romano, L; Romano, C.
Mutations in the caveolin-3 gene cause autosomal dominant limb-girdle muscular dystrophy.
1998-01-01 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.
Primary adrenal insufficiency in a child with a mitochondrial DNA deletion.
1998-01-01 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.
1998-01-01 Minetti, Carlo; Garavaglia, B; Bado, M; Invernizzi, F; Bruno, C; Rimoldi, M; Pons, R; Taroni, F; Cordone, G.
Combined defects of muscle phosphofructokinase and AMP deaminase in a child with myoglobinuria.
1998-01-01 Bruno, C; Minetti, Carlo; Shanske, S; Morreale, G; Bado, M; Cordone, G; Dimauro, S.
Forearm semi-ischemic exercise test in pediatric patients.
1998-01-01 Bruno, C; Bado, M; Minetti, Carlo; Cordone, G.
A novel missense mutation in the glycogen branching enzyme gene in a child with myopathy and hepatopathy.
1999-01-01 Bruno, C; Dirocco, M; Lamba, Ld; Bado, M; Marino, C; Tsujino, S; Shanske, S; Stella, G; Minetti, Carlo; van Diggelen, Op; Dimauro, S.
A novel missense mutation (W797R) in the myophosphorylase gene in spanish patients with McArdle disease
2000-01-01 Fcmandcz, R.; Navarro, C.; Andren, A. L.; Bruno, C.; Shanskc, S.; G('a)mcz, J.; Teijcira, S.; Hem('a)ndcz, I.; Teijeiro, A.; Fern('a)ndcz, J. M.; Musumeci, O.; Dimauro, S.
Novel mutation in the CPT II gene in a child with periodic febrile myalgia and myoglobinuria.
2000-01-01 Bruno, C; Bado, M; Minetti, Carlo; Cordone, G; Dimauro, S.
Mutation in the CAV3 gene causes partial caveolin-3 deficiency and hyperCKemia
2000-01-01 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
Prediabete. Il diabete nell'età evolutiva.
2000-01-01 Lorini, RENATA GIUSEPPINA; D'Annunzio, G; Martinetti, M; Avanzini, Ma; Bruno, C; Cotellessa, Mario
Le malattie mitocondriali. Aggiornamento sugli aspetti biochimici e genetico-molecolari.
2001-01-01 Bruno, C; Bado, M; Pedemonte, M; Lorini, RENATA GIUSEPPINA; Fois, A; Cordone, G; Minetti, Carlo
Identification of novel WFS1 mutations in Italian children with Wolfram syndrome
2001-01-01 Tessa, A; Carbone, I; Matteoli, Mc; Bruno, C; Patrono, C; Patera, Ip; DE LUCA, F; Lorini, RENATA GIUSEPPINA; Santorelli, Fm
Indagini morfologiche e genetico-metaboliche nelle malattie muscolari
2001-01-01 Minetti, Carlo; Bruno, Claudio; Carbone, Ilaria; Broda, Paolo; Repetto, Silvia; Rubini, Patrizia; Gregori, Laura; Pedemonte, Marina; Tortorelli, Silvia; Bado, Massimo; Cordone, Giuseppe
Identification of novel WFS1 mutations in Italian children with Wolfram Syndrome
2002-01-01 Carbone, I; Cotellessa, Mario; Bertini, I; Bruno, C; Minetti, Carlo; Giannattasio, A; Minicucci, Laura; Mocchi, M; Lombardo, F; Lorini, RENATA GIUSEPPINA
Two new mutations in the myophosphorylase gene in Italian patients with McArdle's disease.
2002-01-01 Bruno, C; Lanzillo, R; Biedi, C; Iadicicco, L; Minetti, Carlo; Santoro, L.
Titolo | Data di pubblicazione | Autore(i) | File |
---|---|---|---|
Glycogen branching enzyme deficiency in adult polyglucosan body disease | 1-gen-1993 | Bruno, C.; Servidei, S.; Shanske, S.; Karpati, G.; Carpenter, S.; Mckee, D.; Barohn, R. J.; Hirano, M.; Rifai, Z.; Dimauro, S. | |
Caveolinopathies | 1-gen-1993 | Bruno, C; Sotgia, F; Gazzerro, E; Minetti, Carlo; Lisanti, Mp | |
[Muscle phosphorylase deficiency in childhood. A case report]. | 1-gen-1994 | Bruno, C; Iester, A; Bado, M; Morreale, G; Broda, P; Minetti, Carlo; Cordone, A; Cordone, G. | |
[Early myoclonic encephalopathy and spinal muscular atrophy type I]. | 1-gen-1995 | Bado, M; Bruno, C; Morreale, G; Parisi, F; Minetti, Carlo; Cordone, G. | |
N1303K MUTATION AND DIABETES MELLITUS IN CYSTIC FIBROSIS. | 1-gen-1996 | Cotellessa, Mario; Gazzella, M; Bruno, C; Buzzanca, C; Minicucci, Laura; Gandino, M; Romano, L; Romano, C. | |
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. | |
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. | |
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. | |
Forearm semi-ischemic exercise test in pediatric patients. | 1-gen-1998 | Bruno, C; Bado, M; Minetti, Carlo; Cordone, G. | |
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. | |
A novel missense mutation (W797R) in the myophosphorylase gene in spanish patients with McArdle disease | 1-gen-2000 | Fcmandcz, R.; Navarro, C.; Andren, A. L.; Bruno, C.; Shanskc, S.; G('a)mcz, J.; Teijcira, S.; Hem('a)ndcz, I.; Teijeiro, A.; Fern('a)ndcz, J. M.; Musumeci, O.; Dimauro, S. | |
Novel mutation in the CPT II gene in a child with periodic febrile myalgia and myoglobinuria. | 1-gen-2000 | Bruno, C; Bado, M; Minetti, Carlo; Cordone, G; Dimauro, S. | |
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 | |
Prediabete. Il diabete nell'età evolutiva. | 1-gen-2000 | Lorini, RENATA GIUSEPPINA; D'Annunzio, G; Martinetti, M; Avanzini, Ma; Bruno, C; Cotellessa, Mario | |
Le malattie mitocondriali. Aggiornamento sugli aspetti biochimici e genetico-molecolari. | 1-gen-2001 | Bruno, C; Bado, M; Pedemonte, M; Lorini, RENATA GIUSEPPINA; Fois, A; Cordone, G; Minetti, Carlo | |
Identification of novel WFS1 mutations in Italian children with Wolfram syndrome | 1-gen-2001 | Tessa, A; Carbone, I; Matteoli, Mc; Bruno, C; Patrono, C; Patera, Ip; DE LUCA, F; Lorini, RENATA GIUSEPPINA; Santorelli, Fm | |
Indagini morfologiche e genetico-metaboliche nelle malattie muscolari | 1-gen-2001 | Minetti, Carlo; Bruno, Claudio; Carbone, Ilaria; Broda, Paolo; Repetto, Silvia; Rubini, Patrizia; Gregori, Laura; Pedemonte, Marina; Tortorelli, Silvia; Bado, Massimo; Cordone, Giuseppe | |
Identification of novel WFS1 mutations in Italian children with Wolfram Syndrome | 1-gen-2002 | Carbone, I; Cotellessa, Mario; Bertini, I; Bruno, C; Minetti, Carlo; Giannattasio, A; Minicucci, Laura; Mocchi, M; Lombardo, F; Lorini, RENATA GIUSEPPINA | |
Two new mutations in the myophosphorylase gene in Italian patients with McArdle's disease. | 1-gen-2002 | Bruno, C; Lanzillo, R; Biedi, C; Iadicicco, L; Minetti, Carlo; Santoro, L. |
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