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closedAccessaccesoRestringido.pdf.jpg24-Nov-2020A homozygous UBA5 pathogenic variant causes a fatal congenital neuropathyCabrera-Serrano, Macarena; Coote, David Joseph; Azmanov, Dimitar; Goullee, Hayley; Andersen, Erik; McLean, Catriona; Davis, Mark R.; Ishimura, Ryosuke; Stark, Zornitza; Vallat, Jean-Michel; Komatsu, Masaaki; Kornberg, Andrew; Ryan, Monique; Laing, Nigel G.; Ravenscroft, Gianinaartículo
closedAccessaccesoRestringido.pdf.jpgMar-2020POGLUT1 biallelic mutations cause myopathy with reduced satellite cells, α-dystroglycan hypoglycosylation and a distinctive radiological patternServián Morilla, E. ; Cabrera-Serrano, Macarena; Johnson, K.; Pandey, A.; Ito, A.; Rivas Infante, Eloy; Chamova, T.; Muelas, N.; Mongini, T.; Nafissi, S.; Claeys, Kristl G.; Grewal, R. P.; Takeuchi, M.; Hao, H.; Bönnemann, C.; Lopes Abath Neto, O.; Medne, L.; Brandsema, J.; Töpf, A.; Taneva, A.; Vilchez, J. J.; Tournev, I.; Haltiwanger, R. S.; Takeuchi, H.; Jafar-Nejad, H.; Straub, Volker; Paradas, Carmenartículo
closedAccessaccesoRestringido.pdf.jpgOct-2012Severe acute respiratory syndrome coronavirus nsp1 facilitates efficient propagation in cells through a specific translational shutoff of host mrnaTanaka, Tomohisa; Kamitani, Wataru; DeDiego, Marta L. ; Enjuanes Sánchez, Luis ; Matsuura, Yoshiharuartículo
openAccesstdp2gland.pdf.jpg2020TDP2 suppresses genomic instability induced by androgens in the epithelial cells of prostate glandsAl Mahmud, Md. Rasel; Ishii, Kenichiro; Bernal-Lozano, Cristina; Delgado, Irene ; Toi, Masakazu; Akamatsu, Shusuke; Fukumoto, Manabu; Watanabe, Masatoshi; Takeda, Shunichi; Cortés-Ledesma, Felipe ; Sasanuma, Hiroyukiartículo