Search Results - "LAMPERTI, C"

AAV9-based gene therapy partially ameliorates the clinical phenotype of a mouse model of Leigh syndrome by Di Meo, I, Marchet, S, Lamperti, C, Zeviani, M, Viscomi, C

“…Leigh syndrome (LS) is the most common infantile mitochondrial encephalopathy. No treatment is currently available for this condition. Mice lacking Ndufs4 ,…”
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Multi-system neurological disease is common in patients with OPA1 mutations by Yu-Wai-Man, P., Griffiths, P.G., Gorman, G.S., Lourenco, C.M., Wright, A.F., Auer-Grumbach, M., Toscano, A., Musumeci, O., Valentino, M.L., Caporali, L., Lamperti, C., Tallaksen, C.M., Duffey, P., Miller, J., Whittaker, R.G., Baker, M.R., Jackson, M.J., Clarke, M.P., Dhillon, B., Czermin, B., Stewart, J.D., Hudson, G., Reynier, P., Bonneau, D., Marques, W., Lenaers, G., McFarland, R., Taylor, R.W., Turnbull, D.M., Votruba, M., Zeviani, M., Carelli, V., Bindoff, L.A., Horvath, R., Amati-Bonneau, P., Chinnery, P.F.

“…Additional neurological features have recently been described in seven families transmitting pathogenic mutations in OPA1, the most common cause of autosomal…”
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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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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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Autologous transplantation of muscle-derived CD133+ stem cells in Duchenne muscle patients by Torrente, Y, Belicchi, M, Marchesi, C, D'Antona, G, Cogiamanian, F, Pisati, F, Gavina, M, Giordano, R, Tonlorenzi, R, Fagiolari, G, Lamperti, C, Porretti, L, Lopa, R, Sampaolesi, M, Vicentini, L, Grimoldi, N, Tiberio, F, Songa, V, Baratta, P, Prelle, A, Forzenigo, L, Guglieri, M, Pansarasa, O, Rinaldi, C, Mouly, V, Butler-Browne, G S, Comi, G P, Biondetti, P, Moggio, M, Gaini, S M, Stocchetti, N, Priori, A, D'Angelo, M G, Turconi, A, Bottinelli, R, Cossu, G, Rebulla, P, Bresolin, N

“…Duchenne muscular dystrophy (DMD) is a lethal X-linked recessive muscle disease due to defect on the gene encoding dystrophin. The lack of a functional…”
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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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Clinicopathological features of genetically confirmed Danon disease by SUGIE, K, YAMAMOTO, A, LAMPERTI, C, SAITOH, S, BYRNE, E, DIMAURO, S, NONAKA, I, HIRANO, M, NISHINO, I, MURAYAMA, K, OH, S. J, TAKAHASHI, M, MORA, M, RIGGS, J. E, COLOMER, J, ITURRIAGA, C, MELONI, A

“…Danon disease is due to primary deficiency of lysosome-associated membrane protein-2. To define the clinicopathologic features of Danon disease. The features…”
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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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Cerebellar ataxia and coenzyme Q10 deficiency by LAMPERTI, C, NAINI, A, DUBROVSKY, T, CHIRIBOGA, C, ANGELINI, C, PEGORARO, E, DIMAURO, S, HIRANO, M, DE VIVO, D. C, BERTINI, E, SERVIDEI, S, VALERIANI, M, LYNCH, D, BANWELL, B, BERG, M

“…The authors measured coenzyme Q10 (CoQ10) concentration in muscle biopsies from 135 patients with genetically undefined cerebellar ataxia. Thirteen patients…”
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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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Encephalomyopathies caused by abnormal nuclear-mitochondrial intergenomic cross-talk by Lamperti, C, Zeviani, M

“…Autosomal dominant Progressive External Ophthalmoplegias are Mendelian disorders characterized by the accumulation of multiple deletions of mitochondrial DNA…”
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A case of Leber hereditary optic neuropathy plus dystonia caused by G14459A mitochondrial mutation by Saracchi, Enrico, DiFrancesco, J. C., Brighina, L., Marzorati, L., Curtò, N. A., Lamperti, C., Carrara, F., Zeviani, M., Ferrarese, C.

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Dysregulated mitophagy and mitochondrial transport in sensori-motor neuropathy due to “Dominant Optic Atrophy” plus with OPA1 (Optic Atrophy 1) mutations by Liao, C, Diot, A, Ashley, N, Morten, K, Fratter, C, Moroni, I, Bianchi, S, Lamperti, C, Dombi, E, Downes, S, Sitarz, K, Yu-Wai-Man, P, Simon, A, Reilly, M, Enver, T, Iborra, F, Votruba, M, Mortiboys, H, Zeviani, M, Poulton, J

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New molecular findings in congenital myopathies due to selenoprotein N gene mutations by Cagliani, R, Fruguglietti, M.E, Berardinelli, A, D'Angelo, M.G, Prelle, A, Riva, S, Napoli, L, Gorni, K, Orcesi, S, Lamperti, C, Pichiecchio, A, Signaroldi, E, Tupler, R, Magri, F, Govoni, A, Corti, S, Bresolin, N, Moggio, M, Comi, G.P

“…Abstract Selenoprotein N-related myopathy (SEPN1-RM) is an early-onset muscle disorder that can manifest clinically as congenital muscular dystrophy with…”
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Late-onset cerebellar ataxia with hypogonadism and muscle coenzyme Q10 deficiency by GIRONI, M, LAMPERTI, C, DIMAURO, S, NEMNI, R, MOGGIO, M, COMI, G, GUERINI, F. R, FERRANTE, P, CANAL, N, NAINI, A, BRESOLIN, N

“…Two brothers had late-onset progressive ataxia, cerebellar atrophy, and hypergonadotropic hypogonadism associated with coenzyme Q10 (CoQ10) deficiency in…”
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T.P.18 by Sciacco, M, Ronchi, D, Ripolone, M, Violano, R, Lucchini, V, Xhani, R, Comi, G.P, Fortunato, F, Bordoni, A, Tonin, P, Filosto, M, Previtali, S, Mongini, T, Vercelli, L, Vittonatto, E, Toscano, A, Musumeci, O, Barca, E, Angelini, C, Lamperti, C, Mora, M, Morandi, L, Moggio, M

“…Glycogenosis type II (OMIM 23230) is an autosomal recessive lysosomal storage disorder resulting from a deficiency in the glucosidase alpha acid (GAA) enzyme…”
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Neuropathological study of skeletal muscle, heart, liver, and brain in a neonatal form of glycogen storage disease type IV associated with a new mutation in GBE1 gene by Lamperti, C., Salani, S., Lucchiari, S., Bordoni, A., Ripolone, M., Fagiolari, G., Fruguglietti, M. E., Crugnola, V., Colombo, C., Cappellini, A., Prelle, A., Bresolin, N., Comi, G. P., Moggio, M.

“…Summary Glycogen storage disease type IV (GSD IV, or Andersen disease) is an autosomal recessive disorder due to the deficiency of 1,4-α-glucan branching…”
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P3.5 Oxidative defect in a large cohort of genetically-determined SMA cases by Berardinelli, A, Fagiolari, G, Vallejo, D, Lucchini, V, Bordoni, A, Lamperti, C, Ripolone, M, Corti, S, Balottin, U, Bresolin, N, Comi, G, Sciacco, M, Moggio, M

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A CAV3 microdeletion differentially affects skeletal muscle and myocardium by Cagliani, R, Bresolin, N, Prelle, A, Gallanti, A, Fortunato, F, Sironi, M, Ciscato, P, Fagiolari, G, Bonato, S, Galbiati, S, Corti, S, Lamperti, C, Moggio, M, Comi, G P

“…Caveolin-3 is the muscle-specific protein product of the caveolin gene family and an integral membrane component of caveolae. Mutations in the gene encoding…”
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G.P.9.06 Infantile inflammatory myopathy presenting as SMARD 1 by Crugnola, V, Colombo, I, Rossetti, G, Grimoldi, N, Ciscato, P, Prelle, A, Comi, G.P, Bresolin, N, Moggio, M, Lamperti, C

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