Kathryn North

Summary

Affiliation: The Children's Hospital at Westmead
Country: Australia

Publications

  1. ncbi request reprint Cognitive deficits in neurofibromatosis 1
    Kathryn 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
  2. ncbi request reprint Social skills of children with neurofibromatosis type 1
    Belinda Barton
    Neurogenetics Research Unit, The Children s Hospital at Westmead, New South Wales, Australia
    Dev Med Child Neurol 46:553-63. 2004
  3. ncbi request reprint 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
  4. ncbi request reprint Skeletal muscle alpha-actin diseases
    Kathryn N North
    Discipline of Paediatrics, Department of Medicine, University of Sydney, Sydney, Australia
    Adv Exp Med Biol 642:15-27. 2008
  5. pmc Myoblast sensitivity and fibroblast insensitivity to osteogenic conversion by BMP-2 correlates with the expression of Bmpr-1a
    Renjing Liu
    Orthopaedic Research and Biotechnology Unit, The Children s Hospital at Westmead, Sydney, NSW, Australia
    BMC Musculoskelet Disord 10:51. 2009
  6. pmc Phylogenetic analysis of ferlin genes reveals ancient eukaryotic origins
    Angela 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
  7. doi request reprint Why is alpha-actinin-3 deficiency so common in the general population? The evolution of athletic performance
    Kathryn North
    Institute for Neuromuscular Research, The Children s Hospital at Westmead, Sydney, Australia
    Twin Res Hum Genet 11:384-94. 2008
  8. pmc T2 hyperintensities in children with neurofibromatosis type 1 and their relationship to cognitive functioning
    Shelley 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
  9. ncbi request reprint The ACTN3 R577X polymorphism in East and West African athletes
    Nan Yang
    Institute for Neuromuscular Research, Children s Hospital at Westmead, Sydney, Australia
    Med Sci Sports Exerc 39:1985-8. 2007
  10. doi request reprint alpha-actinin-3 and performance
    Nan 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

Collaborators

Detail Information

Publications17

  1. ncbi request reprint Cognitive deficits in neurofibromatosis 1
    Kathryn 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...
  2. ncbi request reprint Social skills of children with neurofibromatosis type 1
    Belinda 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...
  3. ncbi request reprint 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
    ....
  4. ncbi request reprint Skeletal muscle alpha-actin diseases
    Kathryn 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...
  5. pmc Myoblast sensitivity and fibroblast insensitivity to osteogenic conversion by BMP-2 correlates with the expression of Bmpr-1a
    Renjing 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...
  6. pmc Phylogenetic analysis of ferlin genes reveals ancient eukaryotic origins
    Angela 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
    ....
  7. doi request reprint Why is alpha-actinin-3 deficiency so common in the general population? The evolution of athletic performance
    Kathryn 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...
  8. pmc T2 hyperintensities in children with neurofibromatosis type 1 and their relationship to cognitive functioning
    Shelley 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...
  9. ncbi request reprint The ACTN3 R577X polymorphism in East and West African athletes
    Nan Yang
    Institute for Neuromuscular Research, Children s Hospital at Westmead, Sydney, Australia
    Med Sci Sports Exerc 39:1985-8. 2007
    ....
  10. doi request reprint alpha-actinin-3 and performance
    Nan 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...
  11. doi request reprint Mental, motor, and language development of toddlers with neurofibromatosis type 1
    Jennifer 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)...
  12. pmc ACTN3 genotype is associated with human elite athletic performance
    Nan 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...
  13. ncbi request reprint Neurofibromatosis type 1 and optic pathway gliomas: follow-up of 54 patients
    Sureka Thiagalingam
    Department of Ophthalmology, The Children s Hospital at Westmead, LB 4001, Westmead, Sydney, NSW 2145, Australia
    Ophthalmology 111:568-77. 2004
    ..To describe the natural history of optic pathway gliomas (OPGs) in patients with neurofibromatosis type 1 (NF1), and to evaluate the current recommended guidelines for monitoring and follow-up of OPGs in this population...
  14. ncbi request reprint Neurofibromatosis 1: clinical review and exceptions to the rules
    Helen 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...
  15. ncbi request reprint The pathogenesis of ACTA1-related congenital fiber type disproportion
    Nigel 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)...
  16. doi request reprint Altered cellular localization of aquaporin-1 in experimental hydrocephalus in mice and reduced ventriculomegaly in aquaporin-1 deficiency
    Dongwei 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...
  17. doi request reprint Brain structure and function in neurofibromatosis type 1: current concepts and future directions
    Jonathan 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...