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收藏TBCE Mutations Cause Early-Onset Progressive Encephalopathy with Distal Spinal Muscular Atrophy
Sferra, Antonella; Baillat, Gilbert; Rizza, Teresa; Barresi, Sabina; Flex, Elisabetta; Tasca, Giorgio; D'Amico, Adele; Bellacchio, Emanuele; Ciolfi, Andrea; Caputo, Viviana; Cecchetti, Serena; Torella, Annalaura; Zanni, Ginevra; Diodato, Daria; Piermarini, Emanuela; Niceta, Marcello; Coppola, Antonietta; Tedeschi, Enrico; Martinelli, Diego; Dionisi-Vici, Carlo; Nigro, Vincenzo; Dallapiccola, Bruno; Compagnucci, Claudia; Tartaglia, Marco; Haase, Georg; Bertini, Enrico
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收藏Mutations in FGD4 encoding the Rho GDP/GTP exchange factor FRABIN cause autosomal recessive Charcot-Marie-Tooth type 4H
Delague, Valerie; Jacquier, Arnaud; Hamadouche, Tarik; Poitelon, Yannick; Baudot, Cecile; Boccaccio, Irene; Chouery, Eliane; Chaouch, Malika; Kassouri, Nora; Jabbour, Rosette; Grid, Djamel; Megarbane, Andre; Haase, Georg; Levy, Nicolas
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收藏The slow Wallerian degeneration protein, WldS, binds directly to VCP/p97 and partially redistributes it within the nucleus
Laser, H; Conforti, L; Morreale, G; Mack, TGM; Heyer, M; Haley, JE; Wishart, TM; Beirowski, B; Walker, SA; Haase, G; Celik, A; Adalbert, R; Wagner, D; Grumme, D; Ribchester, RR; Plomann, M; Coleman, MP
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