Facioscapulohumeral muscular dystrophy: epidemiological and molecular study in a north-east Italian population sample von Mostacciuolo, ML, Pastorello, E, Vazza, G, Miorin, M, Angelini, C, Tomelleri, G, Galluzzi, G, Trevisan, CP

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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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Point mutations and a large intragenic deletion in SPG11 in complicated spastic paraplegia without thin corpus callosum von Crimella, C, Arnoldi, A, Crippa, F, Mostacciuolo, M L, Boaretto, F, Sironi, M, D’Angelo, M Grazia, Manzoni, S, Piccinini, L, Turconi, A C, Toscano, A, Musumeci, O, Benedetti, S, Fazio, R, Bresolin, N, Daga, A, Martinuzzi, A, Bassi, M T

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Genome-wide scan supports the existence of a susceptibility locus for schizophrenia and bipolar disorder on chromosome 15q26 von VAZZA, G, BERTOLIN, C, SCUDELLARO, E, VETTORI, A, BOARETTO, F, RAMPINELLI, S, DE SANCTIS, G, PERINI, G, PERUZZI, P, MOSTACCIUOLO, M. L

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Rare Risk Variants Identification by Identity-by-Descent Mapping and Whole-Exome Sequencing Implicates Neuronal Development Pathways in Schizophrenia and Bipolar Disorder von Salvoro, C., Bortoluzzi, S., Coppe, A., Valle, G., Feltrin, E., Mostacciuolo, M. L., Vazza, G.

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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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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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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 SACS mutation results in non-ataxic spastic paraplegia and peripheral neuropathy von Gregianin, E., Vazza, G., Scaramel, E., Boaretto, F., Vettori, A., Leonardi, E., Tosatto, S. C. E., Manara, R., Pegoraro, E., Mostacciuolo, M. L.

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Fine analysis of the short arm of chromosome 1 in sporadic and familial pheochromocytoma von Opocher, G., Schiavi, F., Vettori, A., Pampinella, F., Vitiello, L., Calderan, A., Vianello, B., Murgia, A., Martella, M., Taccaliti, A., Mantero, F., Mostacciuolo, M. L.

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Genetic epidemiology of muscular dystrophies resulting from sarcoglycan gene mutations von Fanin, M, Duggan, D J, Mostacciuolo, M L, Martinello, F, Freda, M P, Sorarù, G, Trevisan, C P, Hoffman, E P, Angelini, C

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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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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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PMP22 related congenital hypomyelination neuropathy von Fabrizi, G M, Simonati, A, Taioli, F, Cavallaro, T, Ferrarini, M, Rigatelli, F, Pini, A, Mostacciuolo, M L, Rizzuto, N

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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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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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Epidemiology of myotonic dystrophy in Italy: re-apprisal after genetic diagnosis von Siciliano, G, Manca, ML, Gennarelli, M, Angelini, C, Rocchi, A, Iudice, A, Miorin, M, Mostacciuolo, ML

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Mutations in the connexin 32 gene in X-linked dominant Charcot- Marie - Tooth disease (CMTX1) von Fairweather, Nicholas, Bell, Christine, Cochrane, Susan, Chelly, Jamel, Wang, Suping, L.Mostacciuolo, Marie, P.Monaco, Anthony, E.Haites, Neva

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