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收藏Mutations in the mitochondrial GTPase mitofusin 2 cause Charcot-Marie-Tooth neuropathy type 2A
Züchner, S; Mersiyanova, IV; Muglia, M; Bissar-Tadmouri, N; Rochelle, J; Dadali, EL; Zappia, M; Nelis, E; Patitucci, A; Senderek, J; Parman, Y; Evgrafov, O; De Jonghe, P; Takahashi, Y; Tsuji, S; Pericak-Vance, MA; Quattrone, A; Battologlu, E; Polyakov, AV; Timmerman, V; Schröder, JM; Vance, JM
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收藏Mutations in a gene encoding a novel SH3/TPR domain protein cause autosomal recessive Charcot-Marie-Tooth type 4C neuropathy
Senderek, J; Bergmann, C; Stendel, C; Kirfel, J; Verpoorten, N; De Jonghe, P; Timmerman, V; Chrast, R; Verheijen, MHG; Lemke, G; Battaloglu, E; Parman, Y; Erdem, S; Tan, E; Topaloglu, H; Hahn, A; Müller-Felber, W; Rizzuto, N; Fabrizi, GM; Stuhrmann, M; Rudnik-Schöneborn, S; Züchner, S; Schröder, JM; Buchheim, E; Straub, V; Klepper, JR; Huehne, K; Rautenstrauss, B; Büttner, R; Nelis, E; Zerres, K
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收藏Homozygous mutations in Caveolin-3 cause a severe form of rippling muscle disease
Kubisch, C; Schoser, BGH; von Düring, M; Betz, RC; Goebel, HH; Zahn, S; Ehrbrecht, A; Aasly, J; Schroers, A; Popovic, N; Lochmüller, H; Schröder, JM; Brüning, T; Malin, JP; Fricke, B; Meinck, HM; Torbergsen, T; Engels, H; Voss, B; Vorgerd, M
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收藏Periaxin mutations cause a broad spectrum of demyelinating neuropathies
Takashima, H; Boerkoel, CF; De Jonghe, P; Ceuterick, C; Martin, JJ; Voit, T; Schröder, JM; Williams, A; Brophy, PJ; Timmerman, V; Lupski, JR
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