Research Topics
| Kathryn NorthSummaryAffiliation: The Children's Hospital at Westmead Country: Australia Publications
| Collaborators
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Detail Information
Publications
Cognitive deficits in neurofibromatosis 1Kathryn North
Children s Hospital at Westmead, Department of Paediatrics and Child Health, University of Sydney, Australia
J Child Neurol 17:605-12; discussion 627-9, 646-51. 2002..Clinical studies have identified possible radiologic and pathologic markers for cognitive deficits in neurofibromatosis 1, which can now be explored in animal models...- Social skills of children with neurofibromatosis type 1Belinda Barton
Neurogenetics Research Unit, The Children's Hospital at Westmead, New South Wales, Australia
Dev Med Child Neurol 46:553-63. 2004..These findings dispel the previous assumption that NF1 alone is associated with poor social functioning and has major implications for the development of effective interventions... 
What's new in congenital myopathies?Kathryn North
Institute for Neuromuscular Research, University of Sydney, Children s Hospital at Westmead, Locked Bag 4001, Westmead 2145, Sydney, NSW, Australia
Neuromuscul Disord 18:433-42. 2008....- Skeletal muscle alpha-actin diseasesKathryn N North
Discipline of Paediatrics, Department of Medicine, University of Sydney, Sydney, Australia
Adv Exp Med Biol 642:15-27. 2008..Information from the clinic suggests that exercise and L-tyrosine may benefit some patients and that in the future decreasing the proportion of mutant actin may ameliorate the disease in some patients... 
Myoblast sensitivity and fibroblast insensitivity to osteogenic conversion by BMP-2 correlates with the expression of Bmpr-1aRenjing Liu
Orthopaedic Research and Biotechnology Unit, The Children s Hospital at Westmead, Sydney, NSW, Australia
BMC Musculoskelet Disord 10:51. 2009..We further hypothesized that the sensitivity of cells to BMP-2 would correlate with BMP receptor expression...- Phylogenetic analysis of ferlin genes reveals ancient eukaryotic originsAngela Lek
Institute for Neuroscience and Muscle Research, The Children s Hospital at Westmead, Locked Bag 4001, Sydney, NSW, Australia
BMC Evol Biol 10:231. 2010.... - Why is alpha-actinin-3 deficiency so common in the general population? The evolution of athletic performanceKathryn North
Institute for Neuromuscular Research, The Children s Hospital at Westmead, Sydney, Australia
Twin Res Hum Genet 11:384-94. 2008..Our future studies will focus on the effect of ACTN3 genotype on response to exercise and ageing, and the onset and severity of muscle disease phenotype... - T2 hyperintensities in children with neurofibromatosis type 1 and their relationship to cognitive functioningShelley L Hyman
Neurogenetics Research Unit at the Children s Hospital at Westmead, Discipline of Paediatrics and Child Health Faculty of Medicine, University of Sydney, Sydney, Australia
J Neurol Neurosurg Psychiatry 78:1088-91. 2007..These cognitive deficits have been associated with focal areas of high signal intensity on T2 weighted MRI images but the relationship remains controversial... - alpha-actinin-3 and performanceNan Yang
Institute for Neuroscience and Muscle Research, Children s Hospital at Westmead, University of Sydney, Sydney, NSW, Australia
Med Sport Sci 54:88-101. 2009..In turn, the shift towards a 'slow' muscle phenotype in fast muscle fibers likely explains why loss of alpha-actinin-3 is detrimental to sprint performance... - The ACTN3 R577X polymorphism in East and West African athletesNan Yang
Institute for Neuromuscular Research, Children s Hospital at Westmead, Sydney, Australia
Med Sci Sports Exerc 39:1985-8. 2007.... - Mental, motor, and language development of toddlers with neurofibromatosis type 1Jennifer Lorenzo
Institute for Neuroscience and Muscle Research, The Children s Hospital at Westmead, Westmead, New South Wales, Australia
J Pediatr 158:660-5. 2011..To examine the mental, motor, and language development of toddlers with neurofibromatosis type 1 (NF1)... - ACTN3 genotype is associated with human elite athletic performanceNan Yang
Institute for Neuromuscular Research, Children s Hospital at Westmead, Sydney, Australia
Am J Hum Genet 73:627-31. 2003..The differential effects in sprint and endurance athletes suggests that the R577X polymorphism may have been maintained in the human population by balancing natural selection... - Neurofibromatosis type 1 and optic pathway gliomas: follow-up of 54 patientsSureka Thiagalingam
Department of Ophthalmology, The Children's Hospital at Westmead, LB 4001, Westmead, Sydney, NSW 2145, Australia
Ophthalmology 111:568-77. 2004..Given the potential for serious visual consequences, these findings indicate a need for regular ophthalmological monitoring of this population for a long duration... - Neurofibromatosis 1: clinical review and exceptions to the rulesHelen Young
Children's Hospital at Westmead, Division of Paediatrics and Child Health, University of Sydney, Australia
J Child Neurol 17:613-21; discussion 627-9, 646-51. 2002..In addition, we review in detail patients who had unusual presentations and who represent important "exceptions to the rules" of clinical practice... - The pathogenesis of ACTA1-related congenital fiber type disproportionNigel F Clarke
Institute for Neuromuscular Research, Children s Hospital at Westmead, Discipline of Paediatrics and Child Health, University of Sydney, New South Wales, Australia
Ann Neurol 61:552-61. 2007..We have investigated the basis for the histological differences between these CFTD patients and patients with ACTA1 nemaline myopathy (NM)... - Altered cellular localization of aquaporin-1 in experimental hydrocephalus in mice and reduced ventriculomegaly in aquaporin-1 deficiencyDongwei Wang
Institute for Neuroscience and Muscle Research Children s Hospital at Westmead, Sydney, Australia
Mol Cell Neurosci 46:318-24. 2011..The reduced ventricular size in AQP1-deficient mice following kaolin-induced hydrocephalus suggests AQP1 inhibition or down-regulation as a potential adjunctive treatment for hydrocephalus... - Brain structure and function in neurofibromatosis type 1: current concepts and future directionsJonathan M Payne
Institute for Neuroscience and Muscle Research, Children s Hospital at Westmead, Locked Bag 4001, Westmead NSW 2145, Sydney, Australia
J Neurol Neurosurg Psychiatry 81:304-9. 2010..Identifying the underlying neuropathology of NF1 will be of increased importance as targeted interventions begin to emerge...