Browsing by Author Bushby, Kate

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Issue DateTitleAuthor(s)Citation
2006Aberrant dysferlin trafficking in cells lacking caveolin or expressing dystrophy mutants of caveolin-3.Cooper, Sandra; Lo, Harriet; North, Kathryn; Bushby, Kate; Hernandez-Deviez, Delia J.; Laval, Steven H.; Martin, Sally; Parton, Robert G.; Western Clinical School: Medicine (Westmead); Medicine; Children's Hospital Westmead: Paediatrics & Child HealthAberrant dysferlin trafficking in cells lacking caveolin or expressing dystrophy mutants of caveolin-3., Human Molecular Genetics, 2005, vol.15,(1),2006,pp 129-142
2014Ataluren treatment of patients with nonsense mutation dystrophinopathyJones, Kristi; Barohn, Richard; Bushby, Kate; Campbell, Craig; Comi, Giacomo; Connolly, Anne; Day, John; et al, Various; Finkel, Richard; Flanigan, Kevin; Goemans, Nathalie; Wong, Brenda; Childrens Hospital Westmead: Paediatrics & Child HealthAtaluren treatment of patients with nonsense mutation dystrophinopathy, Muscle and Nerve, vol.50, 4, 2014,pp 477-487
2008Brain involvement in muscular dystrophies with defective dystroglycan glycosylationNorth, Kathryn; Smith, Janine; Bushby, Kate; Clement, Emma; Cowan, F M; et al, Not Known; Godfrey, Caroline; Kinali, Maria; Manzur, Adnan; Mercuri, Eugenio; Robb, Stephanie; Straub, Volker; Talim, Beril; Children's Hospital Westmead: Paediatrics & Child Health; Children's Hospital Westmead: Childrens Medical Research InsBrain involvement in muscular dystrophies with defective dystroglycan glycosylation, Annals of Neurology, vol.64,(5),2008,pp 573-582
2007Refining genotype phenotype correlations in muscular dystrophies with defective glycosylation of dystroglycanNorth, Kathryn; Smith, Janine; Abbs, Stephen; Brockington, Martin; Brown, Susan C; Bushby, Kate; Clement, Emma; Feng, Lucy; Godfrey, Caroline; Jimenez-Mallebrera, Cecilia; Kinali, Maria; Manzur, Eugenio; Mein, Rachael; Mercuri, Eugenio; Muntoni, Francesco; Quinlivan, Ros; Robb, Stephanie; Sewry, Caroline A; Straub, Volker; Talim, Beril; Topalogu, Haluk; Torelli, Silvia; Children's Hospital Westmead: Paediatrics & Child Health; Children's Hospital Westmead: Childrens Medical Research InsRefining genotype phenotype correlations in muscular dystrophies with defective glycosylation of dystroglycan, Brain (2005), vol.130,(10),2007,pp 2725-2735