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Results 1-10 of 11 (Search time: 0.005 seconds).
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PreviewIssue DateTitleAuthor(s)
2013A novel prion disease associated with diarrhea and autonomic neuropathyMead, S.; Gandhi, S.; Beck, J.; Caine, D.; Gallujipali, D.; Carswell, C.; Hyare, H.; Joiner, S.; Ayling, H.; Lashley, T.; Linehan, J.M.; Al-Doujaily, H.; Sharps, B.; Revesz, T.; Sandberg, M.K.; Reilly, M.M.; Koltzenburg, M.; Forbes, A.; Rudge, P.; Brandner, S.; et al.
2013Migalastat HCl reduces globotriaosylsphingosine (Lyso-Gb3) in fabry transgenic mice and in the plasma of fabry patientsYoung-Gqamana, B.; Brignol, N.; Chang, H.; Khanna, R.; Soska, R.; Fuller, M.; Sitaraman, S.; Germain, D.; Giugliani, R.; Hughes, D.; Mehta, A.; Nicholls, K.; Boudes, P.; Lockhart, D.; Valenzano, K.; Benjamin, E.; Schiffmann, R.
2013The genomic landscape of hypodiploid acute lymphoblastic leukemiaTo, L.
2013A suppressor screen in Mecp2 mutant mice implicates cholesterol metabolism in Rett syndromeBuchovecky, C.; Turley, S.; Brown, H.; Kyle, S.; McDonald, J.; Liu, B.; Pieper, A.; Huang, W.; Katz, D.; Russell, D.; Shendure, J.; Justice, M.
2013A tudor domain protein SPINDLIN1 interacts with the mRNA-binding protein SERBP1 and is involved in mouse oocyte meiotic resumptionChew, T.; Peaston, A.; Lim, A.; Lorthongpanich, C.; Knowles, B.; Solter, D.; Sun, Q.-Y.
2013ZC4H2 mutations are associated with arthrogryposis multiplex congenita and intellectual disability through impairment of central and peripheral synaptic plasticityHirata, H.; McMichael, G.; Haan, E.; MacLennan, A.; Yap, T.; Nguyen, L.; Shaw, M.; Gecz, J.
2013A transcription factor contributes to pathogenesis and virulence in streptococcus pneumoniaeMahdi, L.; Ebrahimie, E.; Adelson, D.; Paton, J.; Ogunniyi, A.; Skurnik, M.
2013RBM5 is a male germ cell splicing factor and is required for spermatid differentiation and male fertilityO'Bryan, M.; Clark, B.; McLaughlin, E.; D'Sylva, R.; O'Donnell, L.; Wilce, J.; Sutherland, J.; O'Connor, A.; Whittle, B.; Goodnow, C.; Ormandy, C.; Jamsai, D.; Barsh, G.
2013ER stress causes rapid loss of intestinal epithelial stemness through activation of the unfolded protein responseHeijmans, J.; van Lidth de Jeude, J.; Koo, B.; Rosekrans, S.; Wielenga, M.; van de Wetering, M.; Ferrante, M.; Lee, A.; Onderwater, J.; Paton, J.; Paton, A.; Mommaas, A.; Kodach, L.; Hardwick, J.; Hommes, D.; Clevers, H.; Muncan, V.; van den Brink, G.
2013Mutations in DEPDC5 cause familial focal epilepsy with variable fociDibbens, L.; de Vries, B.; Donatello, S.; Heron, S.; Hodgson, B.; Chintawar, S.; Crompton, D.; Hughes, J.; Bellows, S.; Klein, K.; Callenbach, P.; Corbett, M.; Gardner, A.; Kivity, S.; Iona, X.; Regan, B.; Weller, C.; Crimmins, D.; O'Brien, T.; Guerrero-Lopez, R.; et al.

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