Browsing by Author Guicheney, Pascale

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Issue DateTitleAuthor(s)Citation
2006A clinical and pathological study of congenital fibre type disproportionArbuckle, Susan; Clarke, Nigel; North, Kathryn; Beggs, A; Dennett, X; Ferreiro, Ana; Gonzalez, V; Guicheney, Pascale; Kornberg, Andrew J.; Manson, James I.; Nonaka, I; Shield, Lloyd K.; Smith, R; Children's Hospital Westmead: Medicine; Children's Hospital Westmead: Paediatrics & Child Health; Children's Hospital Westmead: Paediatrics & Child HealthA clinical and pathological study of congenital fibre type disproportion, Neuromuscular Disorders, vol.16,(9-10),2006,pp 646-646
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
2010Expanding the clinical, pathological and MRI phenotype of DNM2-related centronuclear myopathyClarke, Nigel; Kennerson, Marina; Nicholson, Garth; North, Kathryn; Susman, Rachel; Vucic, Steve; Webster, Richard; Yang, Nan; Arbuckle, Susan; Biancalana, Valerie; Bitoun, Marc; Carlier, Robert-Yves; Dowling, Jim; Flanigan, Kevin M.; García-Bragado, Federico; Guicheney, Pascale; Ilkovski, Biljana; Malladi, Chandra S; Mayer, Michèle; Quijano-Roy, Susana; Robinson, Phillip James; Romero, Norma; Urtizberea, Jon Andoni; Childrens Hospital Westmead: Paediatrics & Child Health; Concord Clinical School: ANZAC Research Institute; Concord Clinical School: ANZAC Research Institute; Childrens Hospital Westmead: Paediatrics & Child Health; Childrens Hospital Westmead: Paediatrics & Child Health; Western Clinical School: Medicine (Westmead); Childrens Hospital Westmead: Paediatrics & Child Health; Children's Hospital Westmead: Childrens Medical Research InsExpanding the clinical, pathological and MRI phenotype of DNM2-related centronuclear myopathy, Neuromuscular Disorders, vol.20, 4, 2010,pp 229-237
2006SEPN1: associated with congenital fiber-type disproportion and insulin resistance.Clarke, Nigel; North, Kathryn; Estournet, Brigitte; Ferreiro, Ana; Guicheney, Pascale; Kidson, Warren; Kornberg, Andrew J.; Manson, James I.; Quijano-Roy, Susana; Shield, Lloyd K.; Children's Hospital Westmead: Paediatrics & Child Health; Children's Hospital Westmead: Paediatrics & Child HealthSEPN1: associated with congenital fiber-type disproportion and insulin resistance., Annals of Neurology, vol.59,(3),2006,pp 546-552