P.12.2 Dominant distal myopathy due to slow channelopathy von Angelini, C, Vazza, G, Mostacciuolo, M.L

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A novel mitofusin 2 MFN2 gene mutation causing early onset Charcot-Marie-Tooth 2A disease: Genetic, clinical and MR spectroscopy characterization von Vavla, M, Montanaro, D, Frijia, F, Aghakhanyan, G, Mostacciuolo, M.L, Carraro, E, Casanova, V

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Myocardial involvement is very frequent among patients affected with subclinical Becker's muscular dystrophy von MELACINI, P, FANIN, M, ANGELINI, C, DALLA VOLTA, S, DANIELI, G. A, VILLANOVA, C, MARTINELLO, F, MIORIN, M, FREDA, M. P, MIORELLI, M, MOSTACCIUOLO, M. L, FASOLI, G

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Identification and characterization of C3orf6, a new conserved human gene mapping to chromosome 3q28 von Vazza, G., Picelli, S., Bozzato, A., Mostacciuolo, M.L.

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Prevalence of Inherited Ataxias in the Province of Padua, Italy von Zortea, M., Armani, M., Pastorello, E., Nunez, G.F., Lombardi, S., Tonello, S., Rigoni, M.T., Zuliani, L., Mostacciuolo, M.L., Gellera, C., Di Donato, S., Trevisan, C.P.

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Charcot-Marie-Tooth disease type I and related demyelinating neuropathies: Mutation analysis in a large cohort of Italian families von Mostacciuolo, M.L., Righetti, E., Zortea, M., Bosello, V., Schiavon, F., Vallo, L., Merlini, L., Siciliano, G., Fabrizi, G.M., Rizzuto, N., Milani, M., Baratta, S., Taroni, F.

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High prevalence of chitotriosidase deficiency in Peruvian Amerindians exposed to chitin-bearing food and enteroparasites von Manno, N., Sherratt, S., Boaretto, F., Coico, F. Mejìa, Camus, C. Espinoza, Campos, C. Jara, Musumeci, S., Battisti, A., Quinnell, R.J., León, J. Mostacero, Vazza, G., Mostacciuolo, M.L., Paoletti, M.G., Falcone, F.H.

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SEVERE CMT TYPE 2 WITH FATAL ENCEPHALOPATHY ASSOCIATED WITH A NOVEL MFN2 SPLICING MUTATION von BOARETTO, F, VETTORI, A, MOSTACCIUOLO, M. L, MARTINUZZI, A, CASARIN, A, VAZZA, G, MUGLIA, M, ROSSETTO, M. G, CAVALLARO, T, RIZZUTO, N, CARELLI, V, SALVIATI, L

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A Locus for Migraine without Aura Maps on Chromosome 14q21.2-q22.3 von Soragna, D., Vettori, A., Carraro, G., Marchioni, E., Vazza, G., Bellini, S., Tupler, R., Savoldi, F., Mostacciuolo, M.L.

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A New Locus for Autosomal Recessive Spastic Paraplegia Associated with Mental Retardation and Distal Motor Neuropathy, SPG14, Maps to Chromosome 3q27-q28 von Vazza, G., Zortea, M., Boaretto, F., Micaglio, G.F., Sartori, V., Mostacciuolo, M.L.

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Infancy onset hereditary spastic paraplegia associated with a novel atlastin mutation von Dalpozzo, F, Rossetto, M G, Boaretto, F, Sartori, E, Mostacciuolo, M L, Daga, A, Bassi, M T, Martinuzzi, A

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Genetic mapping of a susceptibility locus for disc herniation and spastic paraplegia on 6q23.3-q24.1 von Zortea, M, Vettori, A, Trevisan, C P, Bellini, S, Vazza, G, Armani, M, Simonati, A, Mostacciuolo, M L

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A novel 9-bp insertion in the GJB1 gene causing a mild form of X-linked CMT with late onset von Vazza, G., Merlini, L., Bertolin, C., Zortea, M., Mostacciuolo, M.L.

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Hereditary spastic paraplegia associated with peripheral neuropathy: a distinct clinical and genetic entity von Mostacciuolo, M.L, Rampoldi, L, Righetti, E, Vazza, G, Schiavon, F, Angelini, C

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Discordant clinical outcome in type III spinal muscular atrophy sibships showing the same deletion pattern von Capon, F., Levato, C., Merlini, L., Angelini, C., Mostacciuolo, M.L., Politano, L., Novelli, G., Dallapiccola, B.

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Linkage mapping of hereditary motor and sensory neuropathy with spastic paraplegia (HMSN V): preliminary results von Mostacciuolo, M.L., Rampoldi, L., Schiavon, F., Righetti, E., Angelini, C.

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CONGENITAL HYPOMYELINATION NEUROPATHY WITH A NOVEL MUTATION OF PMP22 von Rigatelli, F., Fabrizi, G.M., Simonati, A., Cavallaro, T., Ferrarini, M., Taioli, F., Mostacciuolo, M.L., Rizzuto, N.

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Mutations in the connexin 32 gene in X-linked dominant Charcot—Marie—Tooth disease (CMTX1) von Fairweather, N., Bell, C., Cochrane, S., Chelly, J., Wang, S., Mostacciuolo, M.L., Monaco, A.P., Haites, N.E.

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Genotype-phen type correlation and prognostic assessment in 463 patients with myotonic dystrophy von Gennarelli, M., Novelli, G., Pavoni, M., Andreasi-Bassi, F., Martorrell, L., Cornet, M., Menegazzo, E., Mostacciuolo, M.L., Martinez, J.M., Angelini, C., Pizzuti, A., Baiget, M., Dallapiccola, B.

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Multipoint linkage mapping of the Emery-Dreifuss muscular dystrophy gene von Kress, W., Müller, E., Kausch, K., Kullmann, F., Mostacciuolo, M.L., Rietschel, M., Rotthauwe, H.W., Schmalenberger, B., Siciliano, G., Voit, T., Langenbeck, U., Mülluer, B., Danieli, G.A., Zerres, K., Müller, C.R., Grimm, T.

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