Browsing by Author Romero, Norma

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
2012Clinical utility gene card for: Centronuclear and myotubular myopathiesNorth, Kathryn; Beggs, Alan H.; Biancalana, Valerie; Das, Soma; Jungbluth, Heinz; Kress, Wolfram; Laporte, Jocelyn; Nishino, Ichizo; Romero, Norma; Children's Hospital Westmead: Paediatrics & Child HealthClinical utility gene card for: Centronuclear and myotubular myopathies, European Journal of Human Genetics, vol.20, 10, 2012,pp 1-5
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
2008Mutations in TPM3 are a common cause of congenital fiber type disproportionClarke, Nigel; North, Kathryn; Bellance, Remi; Dye, Danielle; Fahey, Michael; Johnson, Edward; Kolski, Hanna; Labarre-Vila, Annick; Laing, Nigel G.; Lim, Esther; Monnier, Nicole; Patel, Rakesh; Romero, Norma; Smith, Robert; Children's Hospital Westmead: Paediatrics & Child Health; Children's Hospital Westmead: Paediatrics & Child HealthMutations in TPM3 are a common cause of congenital fiber type disproportion, Annals of Neurology, vol.63,(3),2008,pp 329-337
2013Recent advances in nemaline myopathyClarke, Nigel; Sandaradura, Sarah; Romero, Norma; Children's Hospital Westmead: Paediatrics & Child Health; Children's Hospital Westmead: Paediatrics & Child HealthRecent advances in nemaline myopathy, Current Opinion In Neurology, vol.26, 5, 2013,pp 519-526
2012Study of LPIN1, LPIN2 and LPIN3 in rhabdomyolysis and exercise-induced myalgiaAlexander, Ian; Bekri, Soumeya; et al, Various; Gouda, Amr; Hubert, Laurence; Kirk, Edwin; Mamoune, Asmaa; Mathew, Suja; Michot, Caroline; Rahman, Shamima; Romero, Norma; Viollet, Louis; Children's Hospital Westmead: Paediatrics & Child HealthStudy of LPIN1, LPIN2 and LPIN3 in rhabdomyolysis and exercise-induced myalgia, Journal of Inherited Metabolic Disease (JIMD), vol.35, 6, 2012,pp 1119-1128