Browsing Centre for Genomics and Child Health by Author "Campbell, KP"
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220th ENMC workshop: Dystroglycan and the dystroglycanopathies Naarden, The Netherlands, 27–29 May 2016
Bevan, N; Bevan, L; Brown, S; van Bokhoven, H; Campbell, KP; Cirak, S; Cisneros, B; Colognato, H; Hohenester, E; Lefeber, DHighlights •Review of clinical phenotypes associated with the dystroglycanopathies. •Discussion of current animal models and their contribution to understanding the disease process. •New insight into the glycosylation of ... -
The functional O-mannose glycan on adystroglycan contains a phospho-ribitol primed for matriglycan addition
Praissman, JL; Willer, T; Sheikh, MO; Toi, A; Chitayat, D; Lin, Y-Y; Lee, H; Stalnaker, SH; Wang, S; Prabhakar, PK (2016-04-29) -
Mutations in B3GALNT2 Cause Congenital Muscular Dystrophy and Hypoglycosylation of alpha-Dystroglycan
Stevens, E; Carss, KJ; Cirak, S; Foley, R; Torelli, S; Willer, T; Tambunan, DE; Yau, S; Brodd, L; Sewry, CA (2013-03-07) -
Mutations in GDP-Mannose Pyrophosphorylase B Cause Congenital and Limb-Girdle Muscular Dystrophies Associated with Hypoglycosylation of alpha-Dystroglycan
Carss, KJ; Stevens, E; Foley, AR; Cirak, S; Riemersma, M; Torelli, S; Hoischen, A; Willer, T; van Scherpenzeel, M; Moore, SA (2013-07-11) -
Mutations in GDP-mannose pyrophosphorylase b cause congenital and limb-girdle muscular dystrophies associated with hypoglycosylation of α-dystroglycan
Moore, SA; Messina, S; Bertini, E; Bönnemann, CG; Abdenur, JE; Grosmann, CM; Kesari, A; Punetha, J; Quinlivan, R; Waddell, LB (2013-07-11)Congenital muscular dystrophies with hypoglycosylation of α-dystroglycan (α-DG) are a heterogeneous group of disorders often associated with brain and eye defects in addition to muscular dystrophy. Causative variants in ...