Search Results - "Musumeci, O."

Central nervous system involvement in late‐onset Pompe disease: clues from neuroimaging and neuropsychological analysis by Musumeci, O., Marino, S., Granata, F., Morabito, R., Bonanno, L., Brizzi, T., Lo Buono, V., Corallo, F., Longo, M., Toscano, A.

“…Background and purpose Late‐onset Pompe disease (LOPD) is a rare, multisystem disorder that is well established to mainly impair skeletal muscle function…”
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Primary mitochondrial myopathy: 12-month follow-up results of an Italian cohort by Montano, V., Lopriore, P., Gruosso, F., Carelli, V., Comi, G. P., Filosto, M., Lamperti, C., Mongini, T., Musumeci, O., Servidei, S., Tonin, P., Toscano, A., Primiano, G., Valentino, M. L., Bortolani, S., Marchet, S., Ricci, G., Modenese, A., Cotti Piccinelli, S., Risi, B., Meneri, M., Arena, I. G., Siciliano, G., Mancuso, Michelangelo

“…Objectives To assess natural history and 12-month change of a series of scales and functional outcome measures in a cohort of 117 patients with primary…”
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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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Adult-onset mitochondrial movement disorders: a national picture from the Italian Network by Montano, V., Orsucci, D., Carelli, V., La Morgia, C., Valentino, M. L., Lamperti, C., Marchet, S., Musumeci, O., Toscano, A., Primiano, G., Santorelli, F. M., Ticci, C., Filosto, M., Rubegni, A., Mongini, T., Tonin, P., Servidei, S., Ceravolo, R., Siciliano, G., Mancuso, Michelangelo

“…Introduction Both prevalence and clinical features of the various movement disorders in adults with primary mitochondrial diseases are unknown. Methods Based…”
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Clinical and molecular aspects of 30 patients with late-onset Pompe disease (LOPD): unusual features and response to treatment by Montagnese, Federica, Barca, E., Musumeci, O., Mondello, S., Migliorato, A., Ciranni, A., Rodolico, C., De Filippi, P., Danesino, C., Toscano, A.

“…Pompe disease is a rare metabolic disorder, due to mutations in the gene encoding acid alpha-glucosidase (GAA), of which infantile and late-onset forms may…”
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Improving outcome measures in late onset Pompe disease: Modified Rasch‐Built Pompe‐Specific Activity scale by Kooten, Harmke A., Horton, Mike C., Wenninger, Stephan, Babačić, Haris, Schoser, Benedikt, Lefeuvre, Claire, Taouagh, Najib, Laforêt, Pascal, Segovia, Sonia, Díaz‐Manera, Jordi, Claeys, Kristl G., Mongini, Tiziana, Musumeci, Olimpia, Toscano, Antonio, Hundsberger, Thomas, Brusse, Esther, Doorn, Pieter A., Ploeg, Ans T., Beek, Nadine A. M. E., Kooten, H. A, Brusse, E., Doorn, P. A, Ploeg, A. T., Beek, N. A. M. E., Wenninger, S., Babačić, H., Schoser, B., Montagnese, F., Gracia Angarita, N., Lefeuvre, C., Taouagh, N., Laforêt, P., Béhin, A., Tard, C., Campana‐Salort, E., Sacconi, S., Solé, G., Spinazzi, M., Bouhour, F., Bouibede, F., Hamroun, D., Hogrel, J. Y., Segovia, S., Díaz‐Manera, J., Claeys, K.G., Mongini, T., Musumeci, O., Toscano, A., Hundsberger, T., Horton, M. C.

“…Background and purpose The Rasch‐Built Pompe‐Specific Activity (R‐PAct) scale is a patient‐reported outcome measure specifically designed to quantify the…”
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Cerebellar ataxia and severe muscle CoQ10 deficiency in a patient with a novel mutation in ADCK3 by Barca, E., Musumeci, O., Montagnese, F., Marino, S., Granata, F., Nunnari, D., Peverelli, L., DiMauro, S., Quinzii, C.M., Toscano, A.

“…Inherited ataxias are a group of heterogeneous disorders in children or adults but their genetic definition remains still undetermined in almost half of the…”
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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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MYH7-related myopathies: clinical, histopathological and imaging findings in a cohort of Italian patients by Fiorillo, C, Astrea, G, Savarese, M, Cassandrini, D, Brisca, G, Trucco, F, Pedemonte, M, Trovato, R, Ruggiero, L, Vercelli, L, D'Amico, A, Tasca, G, Pane, M, Fanin, M, Bello, L, Broda, P, Musumeci, O, Rodolico, C, Messina, S, Vita, G L, Sframeli, M, Gibertini, S, Morandi, L, Mora, M, Maggi, L, Petrucci, A, Massa, R, Grandis, M, Toscano, A, Pegoraro, E, Mercuri, E, Bertini, E, Mongini, T, Santoro, L, Nigro, V, Minetti, C, Santorelli, F M, Bruno, C

“…Myosin heavy chain 7 (MYH7)-related myopathies are emerging as an important group of muscle diseases of childhood and adulthood, with variable clinical and…”
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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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Role of the cardio-pulmonary exercise test and six-minute walking test in the evaluation of exercise performance in patients with late-onset Pompe disease by Crescimanno, G, Modica, R, Lo Mauro, R, Musumeci, O, Toscano, A, Marrone, O

“…Highlights • In patients affected by late onset Pompe disease, the degree of exercise impairment appeared similar if assessed by 6MWT or CPET. • The reduction…”
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Diagnosis of glycogenosis type II by BEMBI, B, CERINI, E, TOSCANO, A, VIANELLO, A, DANESINO, C, DONATI, M. A, GASPERINI, S, MORANDI, L, MUSUMECI, O, PARENTI, G, RAVAGLIA, S, SEIDITA, F

“…The diagnosis of glycogenosis type II is often complicated by the rarity of the condition and the heterogeneity of the clinical manifestations of the disease…”
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Management and treatment of glycogenosis type II by BEMBI, B, CERINI, E, TOSCANO, A, VIANELLO, A, DANESINO, C, DONATI, M. A, GASPERINI, S, MORANDI, L, MUSUMECI, O, PARENTI, G, RAVAGLIA, S, SEIDITA, F

“…Glycogenosis type II is a multisystem disorder that requires management by a multidisciplinary team. The team should include several specialists, such as a…”
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Clinical features and new molecular findings in Carnitine Palmitoyltransferase II (CPT II) deficiency by Corti, S, Bordoni, A, Ronchi, D, Musumeci, O, Aguennouz, M, Toscano, A, Lamperti, C, Bresolin, N, Comi, G.P

“…Abstract Carnitine palmitoyltransferase II (CPT II) deficiency is the most common inherited disorder of lipid metabolism characterized in its adult form by…”
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Clinical phenotype variability in patients with hereditary spastic paraplegia type 5 associated with CYP7B1 mutations by Arnoldi, A, Crimella, C, Tenderini, E, Martinuzzi, A, D'Angelo, MG, Musumeci, O, Toscano, A, Scarlato, M, Fantin, M, Bresolin, N, Bassi, MT

“…Arnoldi A, Crimella C, Tenderini E, Martinuzzi A, D’Angelo MG, Musumeci O, Toscano A, Scarlato M, Fantin M, Bresolin N, Bassi MT. Clinical phenotype…”
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Italian validation of INQoL, a quality of life questionnaire for adults with muscle diseases by Sansone, V. A., Panzeri, M., Montanari, M., Apolone, G., Gandossini, S., Rose, M. R., Politano, L., Solimene, C., Siciliano, G., Volpi, L., Angelini, C., Palmieri, A., Toscano, A., Musumeci, O., Mongini, T., Vercelli, L., Massa, R., Panico, M. B., Grandi, M., Meola, G.

“…Background and purpose:  A quality of life (QoL) questionnaire for neuromuscular diseases was recently constructed and validated in the United Kingdom in a…”
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T.P.34 by Toscano, A, Ferlazzo, E, Romeo, S, Montagnese, F, Aguglia, U, Rodolico, C, Musumeci, O

“…We report a 44-years-old man, who presented, since the age of 20, recurrent episodes of rhabdomyolysis after exercise or prolonged fasting; he also showed a…”
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Blood film examination for vacuolated and PAS-positive lymphocytes as diagnostic screening test for patients with late onset Pompe disease (LOPD) by Toscano, A, Parisi, D, Montagnese, F, Marino, M, Migliorato, A, Ciranni, A, Rodolico, C, Musumeci, O

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Intracranial arterial abnormalities in patients with late onset Pompe disease by Toscano, A, Montagnese, F, Granata, F, Rodolico, C, Mondello, S, Cucinotta, M, Ciranni, A, Longo, M, Musumeci, O

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