Search Results - "Moggio, M."

Autophagy as a new therapeutic target in Duchenne muscular dystrophy by De Palma, C, Morisi, F, Cheli, S, Pambianco, S, Cappello, V, Vezzoli, M, Rovere-Querini, P, Moggio, M, Ripolone, M, Francolini, M, Sandri, M, Clementi, E

“…A resolutive therapy for Duchene muscular dystrophy, a severe degenerative disease of the skeletal muscle, is still lacking. Because autophagy has been shown…”
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Altered TDP‐43‐dependent splicing in HSPB8‐related distal hereditary motor neuropathy and myofibrillar myopathy by Cortese, A., Laurà, M., Casali, C., Nishino, I., Hayashi, Y. K., Magri, S., Taroni, F., Stuani, C., Saveri, P., Moggio, M., Ripolone, M., Prelle, A., Pisciotta, C., Sagnelli, A., Pichiecchio, A., Reilly, M. M., Buratti, E., Pareyson, D.

“…Background and purpose Mutations in the small heat‐shock protein 22 gene (HSPB8) have been associated with Charcot‐Marie‐Tooth disease type 2L, distal…”
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Value of insoluble PABPN1 accumulation in the diagnosis of oculopharyngeal muscular dystrophy by Galimberti, V., Tironi, R., Lerario, A., Scali, M., Del Bo, R., Rodolico, C., Brizzi, T., Gibertini, S., Maggi, L., Mora, M., Toscano, A., Comi, G. P., Sciacco, M., Moggio, M., Peverelli, L.

“…Background and purpose The aim was to assess the value of insoluble PABPN1 muscle fibre nuclei accumulation in the diagnosis of atypical cases of…”
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Effects of short‐to‐long term enzyme replacement therapy (ERT) on skeletal muscle tissue in late onset Pompe disease (LOPD) by Ripolone, M., Violano, R., Ronchi, D., Mondello, S., Nascimbeni, A., Colombo, I., Fagiolari, G., Bordoni, A., Fortunato, F., Lucchini, V., Saredi, S., Filosto, M., Musumeci, O., Tonin, P., Mongini, T., Previtali, S., Morandi, L., Angelini, C., Mora, M., Sandri, M., Sciacco, M., Toscano, A., Comi, G. P., Moggio, M.

“…Aims Pompe disease is an autosomal recessive lysosomal storage disorder resulting from deficiency of acid α‐glucosidase (GAA) enzyme. Histopathological…”
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LOPED study: looking for an early diagnosis in a late-onset Pompe disease high-risk population by Musumeci, O, la Marca, G, Spada, M, Mondello, S, Danesino, C, Comi, G P, Pegoraro, E, Antonini, G, Marrosu, G, Liguori, R, Morandi, L, Moggio, M, Massa, R, Ravaglia, S, Di Muzio, A, Filosto, M, Tonin, P, Di Iorio, G, Servidei, S, Siciliano, G, Angelini, C, Mongini, T, Toscano, A

“…ObjectiveA multicentre observational study was aimed to assess the prevalence of late-onset Pompe disease (LOPD) in a large high-risk population, using the…”
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Observational clinical study in juvenile-adult glycogenosis type 2 patients undergoing enzyme replacement therapy for up to 4 years by Angelini, C., Semplicini, C., Ravaglia, S., Bembi, B., Servidei, S., Pegoraro, E., Moggio, M., Filosto, M., Sette, E., Crescimanno, G., Tonin, P., Parini, R., Morandi, L., Marrosu, G., Greco, G., Musumeci, O., Di Iorio, G., Siciliano, G., Donati, M. A., Carubbi, F., Ermani, M., Mongini, T., Toscano, A.

“…The objective of this study was to describe a large Italian cohort of patients with late-onset glycogen storage disease type 2 (GSDII) at various stages of…”
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Congenital muscular dystrophies with defective glycosylation of dystroglycan: A population study by MERCURI, E, MESSINA, S, BOFFI, P, CASSANDRINI, D, LAVERDA, A, MOGGIO, M, MORANDI, L, MORONI, I, PANE, M, PEZZANI, R, PICHIECCHIO, A, PINI, A, BRUNO, C, MINETTI, C, MONGINI, T, MOTTARELLI, E, RICCI, E, RUGGIERI, A, SAREDI, S, SCUDERI, C, TESSA, A, TOSCANO, A, TORTORELLA, G, MORA, M, TREVISAN, C. P, UGGETTI, C, VASCO, G, SANTORELLI, F. M, BERTINI, E, PEGORARO, E, COMI, G. P, D'AMICO, A, AIELLO, C, BIANCHERI, R, BERARDINELLI, A

“…Congenital muscular dystrophies (CMD) with reduced glycosylation of alpha-dystroglycan (alpha-DG) are a heterogeneous group of conditions associated with…”
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Revisiting mitochondrial ocular myopathies: a study from the Italian Network by Orsucci, D., Angelini, C., Bertini, E., Carelli, V., Comi, G. P., Federico, A., Minetti, C., Moggio, M., Mongini, T., Santorelli, F. M., Servidei, S., Tonin, P., Ardissone, A., Bello, L., Bruno, C., Ienco, E. Caldarazzo, Diodato, D., Filosto, M., Lamperti, C., Moroni, I., Musumeci, O., Pegoraro, E., Primiano, G., Ronchi, D., Rubegni, A., Salvatore, S., Sciacco, M., Valentino, M. L., Vercelli, L., Toscano, A., Zeviani, M., Siciliano, G., Mancuso, M.

“…Ocular myopathy, typically manifesting as progressive external ophthalmoplegia (PEO), is among the most common mitochondrial phenotypes. The purpose of this…”
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Expanding the histopathological spectrum of CFL2‐related myopathies by Fattori, F., Fiorillo, C., Rodolico, C., Tasca, G., Verardo, M., Bellacchio, E., Pizzi, S., Ciolfi, A., Fagiolari, G., Lupica, A., Broda, P., Pedemonte, M., Moggio, M., Bruno, C., Tartaglia, M., Bertini, E., D'Amico, A.

“…Congenital myopathies (CMs) caused by mutation in cofilin‐2 gene (CFL2) show phenotypic heterogeneity ranging from early‐onset and rapid progressive forms to…”
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Adult Polyglucosan Body Disease: Clinical and histological heterogeneity of a large Italian family by Colombo, I, Pagliarani, S, Testolin, S, Salsano, E, Napoli, L.M, Bordoni, A, Salani, S, D'Adda, E, Morandi, L, Farina, L, Magri, F, Riva, M, Prelle, A, Sciacco, M, Comi, G.P, Moggio, M

“…Highlights • We report a large non-Jewish Italian family affected with APBD. • Clinical and histological heterogeneity was observed at disease onset. •…”
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Fatigue and exercise intolerance in mitochondrial diseases. Literature revision and experience of the Italian Network of mitochondrial diseases by Mancuso, M, Angelini, C, Bertini, E, Carelli, V, Comi, G.P, Minetti, C, Moggio, M, Mongini, T, Servidei, S, Tonin, P, Toscano, A, Uziel, G, Zeviani, M, Siciliano, G

“…Abstract Fatigue and exercise intolerance are common symptoms of mitochondrial diseases, but difficult to be clinically assessed. New methods to quantify these…”
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Mutated mitofusin 2 presents with intrafamilial variability and brain mitochondrial dysfunction by DEL BO, R, MOGGIO, M, LAMPERTI, C, CORTI, S, FEDERICO, A, BRESOLIN, N, COMI, G. P, RANGO, M, BONATO, S, D'ANGELO, M. G, GHEZZI, S, AIROLDI, G, BASSI, M. T, GUGLIERI, M, NAPOLI, L

“…The axonal forms of Charcot-Marie-Tooth (CMT2) disease are a clinically and genetically heterogeneous group of disorders. Mitofusin 2 gene (MFN2) mutations are…”
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ORAI1 mutations cause abnormal channel gating in tubular aggregate myopathy by Böhm, J, Bulla, M, Urquhart, J, Koch, C, Newman, W, Mora, M, Moggio, M, Romero, N, Demaurex, N, Laporte, J

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Autophagy as a new therapeutic target in Duchenne muscular dystrophy by De Palma, C, Morisi, F, Cheli, S, Pambianco, S, Cappello, V, Vezzoli, M, Rovere-Querini, P, Moggio, M, Ripolone, M, Francolini, M, Sandri, M, Clementi, E

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Respiratory and cardiac function in congenital muscular dystrophies with alpha dystroglycan deficiency by Pane, M, Messina, S, Vasco, G, Foley, A.R, Morandi, L, Pegoraro, E, Mongini, T, D’Amico, A, Bianco, F, Lombardo, M.E, Scalise, R, Bruno, C, Berardinelli, A, Pini, A, Moroni, I, Mora, M, Toscano, A, Moggio, M, Comi, G, Santorelli, F.M, Bertini, E, Muntoni, F, Mercuri, E

“…Abstract The aim of this retrospective study was to assess respiratory and cardiac function in a large cohort of patients with congenital muscular dystrophies…”
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Clinical evaluation and cellular electrophysiology of a recessive CLCN1 patient by Lucchiari, S, Ulzi, G, Magri, F, Bucchia, M, Corbetta, F, Servida, M, Moggio, M, Comi, G P, Lecchi, M

“…Here we present the case of a 32-year-old female patient with myotonia congenita. She carried two mutations in the CLCN1 gene that encodes the chloride channel…”
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Skin-derived stem cells transplanted into resorbable guides provide functional nerve regeneration after sciatic nerve resection by Marchesi, C., Pluderi, M., Colleoni, F., Belicchi, M., Meregalli, M., Farini, A., Parolini, D., Draghi, L., Fruguglietti, M. E., Gavina, M., Porretti, L., Cattaneo, A., Battistelli, M., Prelle, A., Moggio, M., Borsa, S., Bello, L., Spagnoli, D., Gaini, S. M., Tanzi, M. C., Bresolin, N., Grimoldi, N., Torrente, Y.

“…The regeneration in the peripheral nervous system is often incomplete and the treatment of severe lesions with nerve tissue loss is primarily aimed at…”
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G.P.185 by Ronchi, D, Sciacco, M, Bordoni, A, Colombo, I, Piga, D, Fortunato, F, Moggio, M, Comi, G.P

“…Mitochondrial DNA host a wide number of molecular defects associated with a broad spectrum of human clinical presentations ranging from tissue-specific…”
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Coexistence of CMT-2D and distal SMA-V phenotypes in an italian family with a GARS gene mutation by DEL BO, R, LOCATELLI, F, COMI, G. P, CORTI, S, SCARLATO, M, GHEZZI, S, PRELLE, A, FAGIOLARI, G, MOGGIO, M, CARPO, M, BRESOLIN, N

“…An Italian multigenerational family with four members affected by an axonal Charcot-Marie-Tooth type 2D (CMT-2D) or distal spinal muscular atrophy (dSMA)…”
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Late-onset congenital myopathies: Clinical and molecular features by Maggi, L, Colombo, I, Fattori, F, Fiorillo, C, Vita, G, Magri, F, Pane, M, D'Amico, A, Bernasconi, P, Mora, M, Messina, S, Santorelli, F, Mercuri, E, Bertini, E, Pegoraro, E, Comi, G, Moggio, M, Morandi, L, Bruno, C

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