Browsing by Author Torelli, Silvia

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Issue DateTitleAuthor(s)Citation
2013Mutations in GDP-Mannose Pyrophosphorylase B Cause Congenital and Limb-Girdle Muscular Dystrophies Associated with Hypoglycosylation of α-DystroglycanNorth, Kathryn; Young, Helen; Carss, Keren J; Cirak, Sebahattin; et al, Various; Foley, A Reghan; Hoischen, Alexander; Moore, Steven A; Riemersma, Moniek; Stevens, Elizabeth; Torelli, Silvia; Van Scherpenzeel, Monique; Willer, Tobias; Children's Hospital Westmead: Paediatrics & Child Health; Children's Hospital Westmead: Paediatrics & Child HealthMutations in GDP-Mannose Pyrophosphorylase B Cause Congenital and Limb-Girdle Muscular Dystrophies Associated with Hypoglycosylation of α-Dystroglycan, American Journal of Human Genetics, vol.93, 1, 2013,pp 29-41
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