Browsing by Author Moore, Steven A

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Issue DateTitleAuthor(s)Citation
2014Endogenous Glucuronyltransferase Activity of LARGE or LARGE2 Required for Functional Modification of alpha-dystroglycan in Cells and TissuesClarke, Nigel; Anderson, Mary E; Bonnemann, Carsten; Campbell, Kevin; Guicheney, Pascale; Hara, Yuji; Inamori, Kei-ichiro; Moore, Steven A; Venzke, David; Willer, Tobias; Childrens Hospital Westmead: Paediatrics & Child HealthEndogenous Glucuronyltransferase Activity of LARGE or LARGE2 Required for Functional Modification of alpha-dystroglycan in Cells and Tissues, The Journal of Biological Chemistry, vol.289, 41, 2014,pp 28138-28148
2015Mutation screen reveals novel variants and expands the phenotypes associated with DYNC1H1Kennerson, Marina; Bender, Benjamin; Brunner-Krainz, Michaela; et al, Various; Gruber-Sedlmayr, Ursula; Hauser, Natalie; Moore, Steven A; Offenbacher, Hans; Schabhuttl, Maria; Strickland, Alleene; Synofzik, Matthis; Windhager, Reinhard; Concord Clinical School: ANZAC Research InstituteMutation screen reveals novel variants and expands the phenotypes associated with DYNC1H1, Journal of Neurology, vol.262, 9, 2015,pp 2124-2134
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