Search Results - "BRUGNONI, R"

ClC‐1 mutations in myotonia congenita patients: insights into molecular gating mechanisms and genotype–phenotype correlation by Imbrici, P., Maggi, L., Mangiatordi, G. F., Dinardo, M. M., Altamura, C., Brugnoni, R., Alberga, D., Pinter, G. Lauria, Ricci, G., Siciliano, G., Micheli, R., Annicchiarico, G., Lattanzi, G., Nicolotti, O., Morandi, L., Bernasconi, P., Desaphy, J.‐F., Mantegazza, R., Camerino, D. Conte

“…Key points Loss‐of‐function mutations of the skeletal muscle ClC‐1 channel cause myotonia congenita with variable phenotypes. Using patch clamp we show that…”
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Marked phenotypic variability in two siblings with congenital myasthenic syndrome due to mutations in MUSK by Maggi, Lorenzo, Brugnoni, R., Scaioli, V., Winden, T. L., Morandi, L., Engel, A. G., Mantegazza, R., Bernasconi, P.

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P.12.4 Great phenotypic variability in two siblings affected by congenital myasthenic syndrome associated with mutations in MUSK by Maggi, L, Brugnoni, R, Confalonieri, P, Scaioli, V, Morandi, L, Engel, A.G, Mantegazza, R, Bernasconi, P

“…Congenital myasthenic syndromes (CMS) are rare genetic diseases, in which neuromuscular transmission is impaired. To date 17 CMS disease genes have been…”
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G.P.137 by Imbrici, P, Desaphy, J.F, Brugnoni, R, Colleoni, L, Canioni, E, Kapetis, D, Altamura, C, Bernasconi, P, Morandi, L, Maggi, L, Mantegazza, R, Conte, D

“…Myotonia congenita is an inherited disease characterized by impaired muscle relaxation after contraction, resulting in muscle stiffness. It is caused by…”
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Efficacy of propafenone in paramyotonia congenita by ALFONSI, E, MERLO, I. M, TONINI, M, RAVAGLIA, S, BRUGNONI, R, GOZZINI, A, MOGLIA, A

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G.P.136 by Maggi, L, Brugnoni, R, Colleoni, L, Kapetis, D, Ardissone, A, Pini, A, Ricci, G, Vercelli, L, Ravaglia, S, Moroni, I, Pegoraro, E, Lo Monaco, M, Sansone, V, Meola, G, Siciliano, G, Mongini, T, Filosto, M, Morandi, L, Mantegazza, R, Bernasconi, P

“…Skeletal muscle channelopathies are rare diseases, including non-dystrophic myotonia and periodic paralysis, which are associated with a great inter- and…”
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Disruption of heart sarcoglycan complex and severe cardiomyopathy caused by β sarcoglycan mutations by Barresi, Rita, Di Blasi, Claudia, Negri, Tiziana, Brugnoni, Raffaella, Vitali, Andrea, Felisari, Giorgio, Salandi, Antonio, Daniel, Sergio, Cornelio, Ferdinando, Morandi, Lucia, Mora, Marina

“…Two young males with limb-girdle muscular dystrophy (LGMD) resulting from sarcoglycan deficiency died at 27 (patient 1) and 18 years (patient 2) of severe…”
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VP.41 Congenital myasthenic syndrome: natural history of an Italian cohort of patients by Gallone, A., Pugliese, A., Brugnoni, R., Tramacere, I., Bonanno, S., Garibaldi, M., Rodolico, C., Maggi, L.

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Is the CACNA1A gene involved in familial migraine with aura? by Brugnoni, R, Leone, M, Rigamonti, A, Moranduzzo, E, Cornelio, F, Mantegazza, R, Bussone, G

“…The discovery of mutations in the neural calcium channel (CACNA1A) gene in familial hemiplegic migraine (FHM), variant of migraine with aura, led to the…”
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Identification of three novel mutations in the major human skeletal muscle chloride channel gene (CLCN1), causing myotonia congenita by Brugnoni, Raffaella, Galantini, Stefania, Confalonieri, Paolo, Balestrini, Maria Rosa, Cornelio, Ferdinando, Mantegazza, Renato

“…Myotonia congenita (MC) is a genetic disease characterized by mutations in the CLCN1 gene (OMIM*118425) encoding the skeletal muscle voltage‐gated chloride…”
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Marked phenotypic variability in two siblings affected by congenital myasthenic syndrome caused by mutations in MUSK by L, Maggi, R, Brugnoni, P, Confalonieri, V, Scaioli, T, Winden, L, Morandi, AG, Engel, R, Mantegazza, P, Bernasconi

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G.P.137: Functional study of five new CLC-1 mutations causing myotonia congenita in Italian families by Imbrici, P., Desaphy, J.F., Brugnoni, R., Colleoni, L., Canioni, E., Kapetis, D., Altamura, C., Bernasconi, P., Morandi, L., Maggi, L., Mantegazza, R., Conte, D.

“…Myotonia congenita is an inherited disease characterized by impaired muscle relaxation after contraction, resulting in muscle stiffness. It is caused by…”
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G.P.136: Muscle channelopathies: Clinical and genetic features in a large cohort of Italian patients by Maggi, L., Brugnoni, R., Colleoni, L., Kapetis, D., Ardissone, A., Pini, A., Ricci, G., Vercelli, L., Ravaglia, S., Moroni, I., Pegoraro, E., Lo Monaco, M., Sansone, V., Meola, G., Siciliano, G., Mongini, T., Filosto, M., Morandi, L., Mantegazza, R., Bernasconi, P.

“…Skeletal muscle channelopathies are rare diseases, including non-dystrophic myotonia and periodic paralysis, which are associated with a great inter- and…”
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Expression of transforming growth factor-beta 1 in dystrophic patient muscles correlates with fibrosis. Pathogenetic role of a fibrogenic cytokine by Bernasconi, P, Torchiana, E, Confalonieri, P, Brugnoni, R, Barresi, R, Mora, M, Cornelio, F, Morandi, L, Mantegazza, R

“…Duchenne muscular dystrophy is a fatal disorder characterized by progressive muscular weakness, wasting, and severe muscle contractures in later disease…”
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A new non-radioactive method for the screening and prenatal diagnosis of myotonic dystrophy patients by BRUGNONI, R, MORANDI, L, BRAMBATI, B, BRISCIOLI, V, CORNELIO, F, MANTEGAZZA, R

“…Myotonic dystrophy (DM) is an autosomal dominant neuromuscular disease with an estimated incidence of 1 in 8000 and is the most common form of muscular…”
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Dystrophin characterization in BMD patients: correlation of abnormal protein with clinical phenotype by Morandi, Lucia, Mora, Marina, Confalonieri, Valeria, Barresi, Rita, Di Blasi, Claudia, Brugnoni, Raffaella, Bernasconi, Pia, Mantegazza, Renato, Dworzak, Federica, Antozzi, Carlo, Balestrini, Maria Rosa, Jarre, Laura, Pini, Antonella, Merlini, Luciano, Piccolo, Giovanni, Mazzanti, Adriana, Daniel, Sergio, Blàsevich, Flavia, Cornelio, Ferdinando

“…We have investigated protein expression and genotype in 59 Becker muscular dystrophy (BMD) patients. The aim was to identify possible causes of the marked…”
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DMD and BMD in the same family due to distinct mutations by Morandi, L, Mora, M, Tedeschi, S, Di Blasi, C, Curcio, C, De Leonardis, P, Brugnoni, R, Bernasconi, P, Mantegazza, R, Confalonieri, V

“…We report on a family with a boy affected by Duchenne muscular dystrophy (DMD) and an asymptomatic cousin with a Becker-type dystrophin abnormality, diagnosed…”
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