Browsing by Author Quijano-Roy, Susana

Jump to: 0-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
or enter first few letters:  
Showing results 1 to 5 of 5
Issue DateTitleAuthor(s)Citation
2014Approach to the diagnosis of congenital myopathiesClarke, Nigel; North, Kathryn; Amburgey, Kimberley; Beggs, Alan H; Bonnemann, Carsten; Dowling, James; Jungbluth, Heinz; Laing, Nigel G; Quijano-Roy, Susana; Sewry, C; Vainzof, Mariz; Wang, Ching; Childrens Hospital Westmead: Paediatrics & Child Health; Childrens Hospital Westmead: Paediatrics & Child HealthApproach to the diagnosis of congenital myopathies, Neuromuscular Disorders, vol.24, 2, 2014,pp 97-116
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
2013Natural history of pulmonary function in collagen VI-related myopathiesNorth, Kathryn; Bertini, E; Collins, James; D'Amico, Adele; Deconinck, Nicolas; et al, Various; Foley, A Reghan; McCallum, Michelle; Mercuri, Eugenio; Pane, Marika; Quijano-Roy, Susana; Straub, Volker; Children's Hospital Westmead: Paediatrics & Child HealthNatural history of pulmonary function in collagen VI-related myopathies, Brain, vol.136, N/A, 2013,pp 3625-3633
2008De novo LMNA mutations cause a new form of congenital muscular dystrophyClarke, Nigel; Bonnemann, Carsten G; Colomer, Jaume; Cuisset, Jean-Marie; D’Amico, Adele; et al, Not Known; Jeannet, Pierre-Yves; Mbieleu, Blaise; Meirleir, Linda de; Quijano-Roy, Susana; Roper, John; Yaou, Rabah Ben; Children's Hospital Westmead: Paediatrics & Child HealthDe novo LMNA mutations cause a new form of congenital muscular dystrophy, Annals of Neurology, vol.64,(2),2008,pp 177-186
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