Søgeresultater - Pareyson, D
- Showing 1 - 16 results of 16
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A novel founder mutation in the MFN2 gene associated with variable Charcot–Marie–Tooth type 2 phenotype in two families from Southern Italy af Muglia, M, Vazza, G, Patitucci, A, Milani, M, Pareyson, D, Taroni, F, Quattrone, A, Mostacciuolo, M L
Udgivet 2007Text -
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Treadmill training in patients affected by Charcot–Marie–Tooth neuropathy: results of a multicenter, prospective, randomized, single‐blind, controlled study af Mori, L., Signori, A., Prada, V., Pareyson, D., Piscosquito, G., Padua, L., Pazzaglia, C., Fabrizi, G. M., Picelli, A., Schenone, A.
Udgivet 2019Text -
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Reliability of instrumented movement analysis as outcome measure in Charcot–Marie–Tooth disease: Results from a multitask locomotor protocol af Ferrarin, M., Bovi, G., Rabuffetti, M., Mazzoleni, P., Montesano, A., Moroni, I., Pagliano, E., Marchi, A., Marchesi, C., Beghi, E., Pareyson, D.
Udgivet 2011Text -
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Recessive axonal Charcot-Marie-Tooth disease due to compound heterozygous mitofusin 2 mutations af Polke, J.M., Laurá, M., Pareyson, D., Taroni, F., Milani, M., Bergamin, G., Gibbons, V.S., Houlden, H., Chamley, S.C., Blake, J., DeVile, C., Sandford, R., Sweeney, M.G., Davis, M.B., Reilly, M.M.
Udgivet 2011Text -
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Phenotypic variability of childhood Charcot-Marie-Tooth disease af Cornett, KMD, Menezes, MP, Bray, P, Halaki, M, Shy, R, Yum, SW, Estilow, T, Moroni, I, Foscan, M, Pagliano, E, Pareyson, D, Laura, M, Bandhari, T, Muntoni, F, Reilly, MM, Finkel, RS, Sowden, J, Eichinger, K, Herrmann, DN, Shy, ME, Burns, J
Udgivet 2016Text -
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Recommendations for pre-symptomatic genetic testing for hereditary transthyretin amyloidosis in the era of effective therapy: a multicenter Italian consensus af Grandis, M., Obici, L., Luigetti, M., Briani, C., Benedicenti, F., Bisogni, G., Canepa, M., Cappelli, F., Danesino, C., Fabrizi, G. M., Fenu, S., Ferrandes, G., Gemelli, C., Manganelli, F., Mazzeo, A., Melchiorri, L., Perfetto, F., Pradotto, L. G., Rimessi, P., Tini, G., Tozza, S., Trevisan, L., Pareyson, D., Mandich, P.
Udgivet 2020Text -
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CMT subtypes and disease burden in patients enrolled in the Inherited Neuropathies Consortium natural history study: a cross-sectional analysis af Fridman, V, Bundy, B, Reilly, M M, Pareyson, D, Bacon, C, Burns, J, Day, J, Feely, S, Finkel, R S, Grider, T, Kirk, C A, Herrmann, D N, Laurá, M, Li, J, Lloyd, T, Sumner, C J, Muntoni, F, Piscosquito, G, Ramchandren, S, Shy, R, Siskind, C E, Yum, S W, Moroni, I, Pagliano, E, Zuchner, S, Scherer, S S, Shy, M E
Udgivet 2015Text