Value of insoluble PABPN1 accumulation in the diagnosis of oculopharyngeal muscular dystrophy von 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.

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Effects of short‐to‐long term enzyme replacement therapy (ERT) on skeletal muscle tissue in late onset Pompe disease (LOPD) von 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.

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Revisiting mitochondrial ocular myopathies: a study from the Italian Network von 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.

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Adult Polyglucosan Body Disease: Clinical and histological heterogeneity of a large Italian family von 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

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G.P.185 von Ronchi, D, Sciacco, M, Bordoni, A, Colombo, I, Piga, D, Fortunato, F, Moggio, M, Comi, G.P

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Distribution of wild-type and common deletion forms of mtDNA in normal and respiration-deficient muscle fibers from patients with mitochondrial myopathy von Sciacco, Monica, Bonilla, Eduardo, Schon, Eric A., DiMauro, Salvatore, Moraes, Carlos T.

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T.P.18 von 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

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G.P.251 von Magri, F, Govoni, A, Brusa, R, Angelini, C, D’Angelo, M.G, Mongini, T, Toscano, A, Siciliano, G, Tomelleri, G, Mora, M, Nigro, V, Pegoraro, E, Morandi, L, Musumeci, O, Sciacco, M, Ricci, G, Moroni, I, Gandossini, S, Bo, R. Del, Fortunato, F, Ronchi, D, Corti, S, Moggio, M, Bresolin, N, Comi, G.P

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A novel missense adenine nucleotide translocator-1 gene mutation in a Greek adPEO family von NAPOLI, L, BORDONI, A, COMI, G. P, ZEVIANI, M, HADJIGEORGIOU, G. M, SCIACCO, M, TIRANTI, V, TERENTIOU, A, MOGGIO, M, PAPADIMITRIOU, A, SCARLATO, G

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O.24 Loss of function of MGME1, a novel player in mitochondrial DNA replication, causes a distinct autosomal recessive mitochondrial disorder von Kornblum, C, Nicholls, T, Haack, T.B, Schoeler, S, Peeva, V, Danhauser, K, Hallmann, K, Zsurka, G, Rorbach, J, Iuso, A, Wieland, T, Sciacco, M, Ronchi, D, Comi, G.P, Moggio, M, Quinzii, C.M, DiMauro, S, Calvo, S.E, Mootha, V.K, Klopstock, T, Strom, T.M, Meitinger, T, Minczuk, M, Kunz, W.S, Prokisch, H

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Remarkable infidelity of polymerase γA associated with mutations in POLG1 exonuclease domain von DEL BO, R, BORDONI, A, SCIACCO, M, DI FONZO, A, GALBIATI, S, CRIMI, M, BRESOLIN, N, COMI, G. P

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673P Magnetization transfer imaging in late-onset Pompe disease von Croce, M., Naz, F., Barzaghi, L., Paoletti, M., Mongini, T., Gasperini, S., Filosto, M., Maggi, L., Sechi, A., Grandis, M., Sacchini, M., Sciacco, M., Vercelli, L., Bonizzoni, C., Bergsland, N., Santini, F., Deligianni, X., Ravaglia, S., Pichiecchio, A.

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P3.5 Oxidative defect in a large cohort of genetically-determined SMA cases von 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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Next-generation sequencing reveals DGUOK mutations in adult patients with mitochondrial DNA multiple deletions von RONCHI, Dario, GARONE, Caterina, CORTI, Stefania, BRESOLIN, Nereo, MOOTHA, Vamsi K, MOGGIO, Maurizio, DIMAURO, Salvatore, COMI, Giacomo P, SCIACCO, Monica, BORDONI, Andreina, GUTIERREZ RIOS, Purificacion, CALVO, Sarah E, RIPOLONE, Michela, RANIERI, Michela, RIZZUTI, Mafalda, VILLA, Luisa, MAGRI, Francesca

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Clinical manifestations of mitochondrial DNA depletion von VU, T. H, SCIACCO, M, SHARER, L, SCHON, E. A, DIMAURO, S, DEVIVO, D. C, TANJI, K, NICHTER, C, BONILLA, E, CHATKUPT, S, MAERTENS, P, SHANSKE, S, MENDELL, J, KOENIGSBERGER, M. R

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A mitochondrial tRNA(His) gene mutation causing pigmentary retinopathy and neurosensorial deafness von Crimi, M, Galbiati, S, Perini, M P, Bordoni, A, Malferrari, G, Sciacco, M, Biunno, I, Strazzer, S, Moggio, M, Bresolin, N, Comi, G P

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IgD Multiple Myeloma Paraproteinemia as a Cause of Myositis von Colombo, I., Fruguglietti, M. E., Napoli, L., Sciacco, M., Tagliaferri, E., Della Volpe, A., Crugnola, V., Bresolin, Nereo, Moggio, M., Prelle, A.

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Partial depletion and multiple deletions of muscle mtDNA in familial MNGIE syndrome von PAPADIMITRIOU, A, COMI, G. P, SALANI, S, ANASTASOPOULOS, I, GIASSAKIS, G, DIVARI, R, SCARLATO, G, HADJIGEORGIOU, G. M, BORDONI, A, SCIACCO, M, NAPOLI, L, PRELLE, A, MOGGIO, M, FAGIOLARI, G, BRESOLIN, N

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Walking Difficulties and Brainstem Dysfunction: a Case Report of Adult Onset Leigh Syndrome von Cipriano, E., Vecchio, D., Mazzini, L., Strigaro, G., Piga, D., Sciacco, M., Comi, G.P., Genovese, E., Cantello, R.

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T.P.3.04 Clinical trial using nitric oxide releasing drug and nonsteroidal antiinflammatory drugs in muscular dystrophy: Design of a study von Gandossini, S, d’Angelo, M.G, Bonato, S, Comi, G.P, Magri, F, Moggio, M, Sciacco, M, Turconi, A.C, C. Sciorati, Bresolin, N, Clementi, E

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