Browsing by Author Ghaoui, Roula

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 19 of 19
Issue DateTitleAuthor(s)Citation
2015Axonal excitability in primary amyloidotic neuropathyBurke, David; Ng, Karl; Coyle, Luke; Ghaoui, Roula; Hafner, Jessica; Central Clinical School: Medicine; Central Clinical School: MedicineAxonal excitability in primary amyloidotic neuropathy, Muscle and Nerve, vol.51, 3, 2015,pp 443-445
2018Congenital titinopathy: Comprehensive characterisation and pathogenic insightsBournazos, Adam; Charlton, Amanda; Clarke, Nigel; Cooper, Sandra; Fitzsimons, Robin; Ghaoui, Roula; Jones, Kristi; Oates, Emily; O'Grady, Gina Louise; Peduto, Anthony; Sandaradura, Sarah; Waddell, Leigh Brook; Brammah, Susan; Donkervoort, Sandra; et al, Various; Farrar, Michelle A.; Sampaio, Hugo; Smith III, John; Swanson, Lindsay; Ware, James; Whiffin, Nicola; Yau, Kyle; Childrens Hospital Westmead: Paediatrics & Child Health; Childrens Hospital Westmead: Paediatrics & Child Health; Childrens Hospital Westmead: Paediatrics & Child Health; Childrens Hospital Westmead: Paediatrics & Child Health; Medicine; Childrens Hospital Westmead: Paediatrics & Child Health; Childrens Hospital Westmead: Paediatrics & Child Health; Childrens Hospital Westmead: Paediatrics & Child Health; Childrens Hospital Westmead: Paediatrics & Child Health; Westmead Clinical School: Imaging; Childrens Hospital Westmead: Paediatrics & Child Health; Childrens Hospital Westmead: Paediatrics & Child HealthCongenital titinopathy: Comprehensive characterisation and pathogenic insights, Annals of Neurology, vol.83, 6, 2018,pp 1106-1124
2015Expanding the phenotype of GMPPB mutationsClarke, Nigel; Corbett, Alastair; Ghaoui, Roula; Lek, Monkol; Reddel, Stephen; Sue, Carolyn; Waddell, Leigh Brook; Cabrera-Serrano, Macarena; Davis, Mark; Johnsen, Russell D; Kaur, Simranpreet; Laing, Nigel G; Lamont, Phillipa J.; Liang, Christina; MacArthur, Daniel; North, Kathryn N; Ravenscroft, Gianina; Childrens Hospital Westmead: Paediatrics & Child Health; Concord Clinical School: Medicine; Childrens Hospital Westmead: Paediatrics & Child Health; Childrens Hospital Westmead: Paediatrics & Child Health; Concord Clinical School: ANZAC Research Institute; Northern Clinical School: Medicine; Childrens Hospital Westmead: Paediatrics & Child HealthExpanding the phenotype of GMPPB mutations, Brain, vol.138, Pt 4, 2015,pp 836-844
2017Improving genetic diagnosis in Mendelian disease with transcriptome sequencingBournazos, Adam; Clarke, Nigel; Cooper, Sandra; Ghaoui, Roula; Lek, Monkol; Oates, Emily; O'Grady, Gina Louise; Sandaradura, Sarah; Waddell, Leigh Brook; Bolduc, Veronique; Cummings, Beryl; Donkervoort, Sandra; Estrella, Elicia; et al, Various; Foley, A Reghan; Marshall, J; North, Kathryn N.; Reddy, H; Tukiainen, Taru; Zhao, F; Childrens Hospital Westmead: Paediatrics & Child Health; Childrens Hospital Westmead: Paediatrics & Child Health; Childrens Hospital Westmead: Paediatrics & Child Health; Childrens Hospital Westmead: Paediatrics & Child Health; Childrens Hospital Westmead: Paediatrics & Child Health; Childrens Hospital Westmead: Paediatrics & Child Health; Childrens Hospital Westmead: Paediatrics & Child Health; Childrens Hospital Westmead: Paediatrics & Child Health; Childrens Hospital Westmead: Paediatrics & Child HealthImproving genetic diagnosis in Mendelian disease with transcriptome sequencing, Science Translational Medicine, vol.9, 386, 2017,pp 1-11
2017A 'limb-girdle muscular dystrophy' responsive to asthma therapyClarke, Nigel; Cooper, Sandra; Ghaoui, Roula; Hutchinson, David; Lek, Monkol; MacArthur, D; Mulroy, Eoin; Rodrigues, Miriam; Roxburgh, Richard; Childrens Hospital Westmead: Paediatrics & Child Health; Childrens Hospital Westmead: Paediatrics & Child Health; Childrens Hospital Westmead: Paediatrics & Child HealthA 'limb-girdle muscular dystrophy' responsive to asthma therapy, Practical Neurology, vol.17, 4, 2017,pp 327-331
2018Movement disorders in mitochondrial diseaseSue, Carolyn; Ghaoui, Roula; Northern Clinical School: MedicineMovement disorders in mitochondrial disease, Journal of Neurology, vol.265, 5, 2018,pp 1230-1240
2018Movement disorders in mitochondrial diseaseSue, Carolyn; Ghaoui, Roula; Northern Clinical School: MedicineMovement disorders in mitochondrial disease, Journal of Neurology, vol.265, 5, 2018,pp 1230-1240
2018Movement disorders in mitochondrial diseaseSue, Carolyn; Ghaoui, Roula; Northern Clinical School: MedicineMovement disorders in mitochondrial disease, Journal of Neurology, vol.265, 5, 2018,pp 1230-1240
2018Movement disorders in mitochondrial diseaseSue, Carolyn; Ghaoui, Roula; Northern Clinical School: MedicineMovement disorders in mitochondrial disease, Journal of Neurology, vol.265, 5, 2018,pp 1230-1240
2018Movement disorders in mitochondrial diseaseSue, Carolyn; Ghaoui, Roula; Northern Clinical School: MedicineMovement disorders in mitochondrial disease, Journal of Neurology, vol.265, 5, 2018,pp 1230-1240
2018Movement disorders in mitochondrial diseaseSue, Carolyn; Ghaoui, Roula; Northern Clinical School: MedicineMovement disorders in mitochondrial disease, Journal of Neurology, vol.265, 5, 2018,pp 1230-1240
2018Movement disorders in mitochondrial diseaseSue, Carolyn; Ghaoui, Roula; Northern Clinical School: MedicineMovement disorders in mitochondrial disease, Journal of Neurology, vol.265, 5, 2018,pp 1230-1240
2018Movement disorders in mitochondrial diseaseSue, Carolyn; Ghaoui, Roula; Northern Clinical School: MedicineMovement disorders in mitochondrial disease, Journal of Neurology, vol.265, 5, 2018,pp 1230-1240
2018Movement disorders in mitochondrial diseaseSue, Carolyn; Ghaoui, Roula; Northern Clinical School: MedicineMovement disorders in mitochondrial disease, Journal of Neurology, vol.265, 5, 2018,pp 1230-1240
2018Movement disorders in mitochondrial diseaseSue, Carolyn; Ghaoui, Roula; Northern Clinical School: MedicineMovement disorders in mitochondrial disease, Journal of Neurology, vol.265, 5, 2018,pp 1230-1240
2016Mutations in HSPB8 causing a new phenotype of distal myopathy and motor neuropathyClarke, Nigel; Davis, Ryan; Ghaoui, Roula; Kaur, Simranpreet; Sue, Carolyn; Waddell, Leigh Brook; Yiannikas, Konstantinos; Brewer, Janice M.; Evilä, Anni; Hackman, Peter; Huovinen, Sanna; Jonson, Per Harald; Lek, Monkol; Lindfors, Mikaela; MacArthur, Daniel; Needham, Merrilee; North, Kathryn N.; Palmio, J; Penttilä, Sini; Udd, Bjarne; Vihola, Anna K.; Childrens Hospital Westmead: Paediatrics & Child Health; Northern Clinical School: Kolling Institute; Childrens Hospital Westmead: Paediatrics & Child Health; Childrens Hospital Westmead: Paediatrics & Child Health; Northern Clinical School: Medicine; Childrens Hospital Westmead: Paediatrics & Child Health; Northern Clinical School: MedicineMutations in HSPB8 causing a new phenotype of distal myopathy and motor neuropathy, Neurology, vol.86, 4, 2016,pp 391-398
2016Prominent scapulae mimicking an inherited myopathy expands the phenotype of CHD7-related diseaseClarke, Nigel; Ghaoui, Roula; Lek, Monkol; Ma, Alan; Menezes, Manoj; O'Grady, Gina Louise; MacArthur, Daniel; Needham, Merrilee; North, Kathryn N; Peduto, Anthony J.; Sival, Deborah; van Ravenswaaij-Arts, Conny MA; Waddell, Leigh; Wong, Monica TY; Young, Helen; Childrens Hospital Westmead: Paediatrics & Child Health; Childrens Hospital Westmead: Paediatrics & Child Health; Childrens Hospital Westmead: Paediatrics & Child Health; Children's Hospital Westmead: Genetic Medicine; Clinical and Rehabilitation Sciences; Childrens Hospital Westmead: Paediatrics & Child HealthProminent scapulae mimicking an inherited myopathy expands the phenotype of CHD7-related disease, European Journal of Human Genetics, vol.24, 8, 2016,pp 1216-1219
2016TOR1AIP1 as a cause of cardiac failure and recessive limb-girdle muscular dystrophyClarke, Nigel; Cooper, Sandra; Ghaoui, Roula; Benavides, Tatiana; Kaur, Simranpreet; Lek, Monkol; MacArthur, Daniel; North, Kathryn N.; Waddell, Leigh; Childrens Hospital Westmead: Paediatrics & Child Health; Childrens Hospital Westmead: Paediatrics & Child Health; Childrens Hospital Westmead: Paediatrics & Child HealthTOR1AIP1 as a cause of cardiac failure and recessive limb-girdle muscular dystrophy, Neuromuscular Disorders, vol.26, 8, 2016,pp 500-503
2015Use of Whole-Exome Sequencing for Diagnosis of Limb-Girdle Muscular Dystrophy: Outcomes and Lessons LearnedClarke, Nigel; Cooper, Sandra; Corbett, Alastair; Ghaoui, Roula; Jones, Kristi; Kaur, Simranpreet; Nicholson, Garth; O'Grady, Gina Louise; Sue, Carolyn; Waddell, Leigh Brook; Davis, Mark; Laing, Nigel; Lek, Monkol; Liang, Christina; MacArthur, Daniel; Needham, Merrilee; North, Kathryn; Ong, Royston; Reddel, Stephen; Childrens Hospital Westmead: Paediatrics & Child Health; Childrens Hospital Westmead: Paediatrics & Child Health; Concord Clinical School: Medicine; Childrens Hospital Westmead: Paediatrics & Child Health; Childrens Hospital Westmead: Paediatrics & Child Health; Northern Clinical School: Paediatrics & Child Health; Concord Clinical School: ANZAC Research Institute; Childrens Hospital Westmead: Paediatrics & Child Health; Northern Clinical School: Medicine; Childrens Hospital Westmead: Paediatrics & Child HealthUse of Whole-Exome Sequencing for Diagnosis of Limb-Girdle Muscular Dystrophy: Outcomes and Lessons Learned, JAMA Neurology, vol.72, 12, 2015,pp 1424-1432