検索結果 - Fabrizi, G M

Novel mutation of the P0 extracellular domain causes a Déjérine-Sottas syndrome 著者: Fabrizi, G. M., Cavallaro, T., Morbin, M., Simonati, A., Taioli, F., Rizzuto, N.

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Sequence of a cDNA specifying subunit VIa of human cytochrome c oxidase. 著者: Fabrizi, G M, Rizzuto, R, Nakase, H, Mita, S, Kadenbach, B, Schon, E A

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Sequence of a cDNA specifying subunit VIIa of human cytochrome c oxidase. 著者: Fabrizi, G M, Rizzuto, R, Nakase, H, Mita, S, Lomax, M I, Grossman, L I, Schon, E A

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Recombination via flanking direct repeats is a major cause of large-scale deletions of human mitochondrial DNA. 著者: Mita, S, Rizzuto, R, Moraes, C T, Shanske, S, Arnaudo, E, Fabrizi, G M, Koga, Y, DiMauro, S, Schon, E A

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The A to G transition at nt 3243 of the mitochondrial tRNALeu(UUR) may cause an MERRF syndrome. 著者: Fabrizi, G M, Cardaioli, E, Grieco, G S, Cavallaro, T, Malandrini, A, Manneschi, L, Dotti, M T, Federico, A, Guazzi, G

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Sequence of a cDNA specifying subunit VIIc of human cytochrome c oxidase. 著者: Koga, Y, Fabrizi, G M, Mita, S, Arnaudo, E, Lomax, M I, Aqua, M S, Grossman, L I, Schon, E A

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Treadmill training in patients affected by Charcot–Marie–Tooth neuropathy: results of a multicenter, prospective, randomized, single‐blind, controlled study 著者: Mori, L., Signori, A., Prada, V., Pareyson, D., Piscosquito, G., Padua, L., Pazzaglia, C., Fabrizi, G. M., Picelli, A., Schenone, A.

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Chorea-acanthocytosis: genetic linkage to chromosome 9q21. 著者: Rubio, J P, Danek, A, Stone, C, Chalmers, R, Wood, N, Verellen, C, Ferrer, X, Malandrini, A, Fabrizi, G M, Manfredi, M, Vance, J, Pericak-Vance, M, Brown, R, Rudolf, G, Picard, F, Alonso, E, Brin, M, Németh, A H, Farrall, M, Monaco, A P

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Dominant GDAP1 mutations cause predominantly mild CMT phenotypes 著者: Zimoń, M., Baets, J., Fabrizi, G.M., Jaakkola, E., Kabzińska, D., Pilch, J., Schindler, A.B., Cornblath, D.R., Fischbeck, K.H., Auer-Grumbach, M., Guelly, C., Huber, N., De Vriendt, E., Timmerman, V., Suter, U., Hausmanowa-Petrusewicz, I., Niemann, A., Kochański, A., De Jonghe, P., Jordanova, A.

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Recommendations for pre-symptomatic genetic testing for hereditary transthyretin amyloidosis in the era of effective therapy: a multicenter Italian consensus 著者: 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.

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