Browsing by Author North, Kathryn N.

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Issue DateTitleAuthor(s)Citation
2017Can in-the-moment diary methods measure health-related quality of life in Duchenne muscular dystrophy?Bray, Paula; Bundy, Anita; North, Kathryn N.; Ryan, Monique; Disability and Community; Health Systems and Global PopulationsCan in-the-moment diary methods measure health-related quality of life in Duchenne muscular dystrophy?, Quality of Life Research, vol.26, 5, 2017,pp 1145-1152
2017Cost-effectiveness of massively parallel sequencing for diagnosis of paediatric muscle diseasesBurns, Joshua; Cooper, Sandra; O'Grady, Gina Louise; Sandaradura, Sarah; Schofield, Deborah; Shrestha, Rupendra Narashingh; Alam, Khurshid; Clarke, Nigel; Davis, Mark; Douglas, Lyndal; Laing, Nigel G; MacArthur, Daniel; North, Kathryn N.; Clinical and Rehabilitation Sciences; Childrens Hospital Westmead: Paediatrics & Child Health; Childrens Hospital Westmead: Paediatrics & Child Health; Childrens Hospital Westmead: Paediatrics & Child Health; Pharmacy; PharmacyCost-effectiveness of massively parallel sequencing for diagnosis of paediatric muscle diseases, n p j Genomic Medicine, vol.2:4, N/A, 2017,pp N/A-N/A
2017Exploring the relationship between (alpha)-actinin-3 deficiency and obesity in mice and humansBerman, Yemima; Cooney, Gregory; Lek, Monkol; Houwelling, P; MacArthur, Daniel; North, Kathryn N.; Quinlan, Kate; Seto, Jane T; Turner, Nigel; Yang, Nan; Childrens Hospital Westmead: Paediatrics & Child Health; School of Medical Sciences: School of Medical Sciences; Childrens Hospital Westmead: Paediatrics & Child HealthExploring the relationship between (alpha)-actinin-3 deficiency and obesity in mice and humans, International Journal of Obesity, vol.41, 7, 2017,pp 1154-1157
2016How does ?-actinin-3 deficiency alter muscle function? Mechanistic insights into ACTN3, the 'gene for speed'Lee, Fiona; Quinlan (nee Edwards), Kate Gemma; Houweling, Peter; North, Kathryn N.; Childrens Hospital Westmead: Paediatrics & Child Health; Childrens Hospital Westmead: Paediatrics & Child HealthHow does ?-actinin-3 deficiency alter muscle function? Mechanistic insights into ACTN3, the 'gene for speed', BBA: Biochimica et Biophysica Acta - Molecular Cell Research, vol.1863, 4, 2016,pp 686-693
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
2018Monitoring of optic nerve function in Neurofibromatosis 2 children with optic nerve sheath meningiomas using multifocal visual evoked potentialsBillson, Frank; Flaherty, Maree; Fraser, Clare; Graham, Stuart Lindsay; Grigg, John; Jayanetti, Viran; Klistorner, Alexander; Dexter, Mark; Jones, Kristi J; North, Kathryn N.; Wilson, Mark; Central Clinical School: Clinical Ophthal & Eye Health; Central Clinical School: Clinical Ophthal & Eye Health; Central Clinical School: Ophthalmology & Eye Health; Save Sight Institute; Central Clinical School: Clinical Ophthal & Eye Health; Save Sight Institute; Central Clinical School: Clinical Ophthal & Eye HealthMonitoring of optic nerve function in Neurofibromatosis 2 children with optic nerve sheath meningiomas using multifocal visual evoked potentials, Journal of Clinical Neuroscience, vol.50, N/A, 2018,pp 262-267
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
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
2016Uptake of health monitoring and disease self-management in Australian adults with neurofibromatosis type 1: strategies to improve careBarton, Belinda; Berman, Yemima; Crawford, Hilda; Wilson, Meredith; McKelvey-Martin, Valerie; Morrison, Patrick J; North, Kathryn N.; Childrens Hospital Westmead: Paediatrics & Child Health; Northern Clinical School: Medicine; Childrens Hospital Westmead: Paediatrics & Child Health; Childrens Hospital Westmead: Paediatrics & Child HealthUptake of health monitoring and disease self-management in Australian adults with neurofibromatosis type 1: strategies to improve care, Clinical Genetics, vol.89, 3, 2016,pp 385-391