Professor Kathryn North

AM
Honorary Professor
Paediatrics & Child Health, Children's Hospital, Westmead

Telephone +61 2 9845 1906
Fax +61 2 9845 3389

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Biographical details

Professor Kathryn North will be the Director of Murdoch Childrens Institute as of February 2013.

Research interests

Professor Kathryn North - Head, Institute for Neuroscience and Muscle Research Neuromuscular disorders constitute one of the major causes of ongoing disability in childhood. Children with neuromuscular disorders have significant and worsening disabilities; many children are unable to walk and, in severe cases, the weakness impairs the muscles of breathing resulting in death at an early age. The Institute for Neuroscience and Muscle Research was established to study inherited neuromuscular disorders such as the muscular dystrophies and staff work closely with the doctors and therapists of the Neurogenetics Clinics to ensure the laboratory discoveries today are translated into real answers for affected children and their families tomorrow. The Institute for Neuroscience and Muscle Research (INMR) has seven teams working on various aspects of bain, nerve and muscle disorders. * Skeletal Muscle and Athletic Performance * Disease Mechanism in Muscular Dystrophies and Membrane Repair for Therapy * Gene Discovery in Inherited Myopathies * Neurofibromatosis (NF): Education and Learning/Clinical Trials (Tumours of NF1 and NF2) * Clinical Trials and Quality of Life * Neuroimmunology * Neurosurgery The INMR is a multi-disciplinary team involving over 40 clinicians, research scientists, genetic counsellors, physiotherapists, occupational therapists and psychologists who care for over 1800 patients and their families. The questions we seek to answer are directly relevant to our patients - our clinical trials can be immediately incorporated into treatments and therapies and our diagnostic service provides families with accurate diagnosis and disease specific treatment. The integration of our clinical and laboratory research and the clinical interface with patients within a Hospital setting makes us unique. Scientists within the laboratory continue to excel, with many junior researchers receiving awards for their presentations at national and international conferences.

International links

France

(Institute de Myologie, Paris) Investigating the molecular pathogenesis of muscular dystrophies

United Kingdom

(TREAT-NMD) Member of an international network relating to patient diagnosis and care of those affected by neuromuscular disorders, the establishment and linkage of patient registries and participation in multi-centre clinical trials

United States

(Children''s National Medical Centre, Washington) Investigating cognitive deficits in Neurofibromatosis type 1

United States

(Harvard Medical School, Boston) Investigating the molecular pathogenesis of muscular dystrophies

United States

(Harvard Medical School, Boston) Investigating the role of the alpha-actinins in skeletal muscle and the molecular pathogenesis of nemaline myopathy

United States

(University of Washington, Seattle - Department of Physiology and Biophysics) Investigating the role of the syntrophin complex in human muscle

Selected grants

2013

  • Dysferlinopathy: A genetic disease sheds light on membrane repair for muscle and cardiac injury; Cooper S, North K, Egan J; National Health and Medical Research Council (NHMRC)/Project Grants.
  • RARE-Bestpractices: Best practices for management of rare diseases; North K, Dawkins H; National Health and Medical Research Council (NHMRC)/International Collaborations: Australian-European Union Health Research Grants.

2012

  • National Centre for Research Excellence in Neuromuscular Disorders: Transforming the management of neuromuscular disorders from compassionate assistance to targeted therapy and prevention; North K, Laing N, Kornberg A, Burns J, Ryan M, Clarke N, Corbett A, Refshauge K, Buckley M, McLean C; National Health and Medical Research Council (NHMRC)/Centre of Clinical Research Excellence.
  • Approaches to therapy for the skeletal muscle actin diseases; North K, Clarke N; National Health and Medical Research Council (NHMRC)/Project Grants.
  • Neuromuscular Disorders: Gene Discovery and Disease Mechanism; North K, Laing N, Nowak K, Clarke N, Buckley M; National Health and Medical Research Council (NHMRC)/Project Grants.

2011

  • SCH CLEM Suite Equip North; North K; Children's Hospital at Westmead/Research Support.
  • The influence of a-actinin-3 on muscle structure, metabolism, performance and response to diet and disease; North K; National Health and Medical Research Council (NHMRC)/Project Grants.
  • Molecular dissection of functional regions of ACTN2 and ACTN3; North K; DVC Research/Bridging Support Grant.
  • ION TORRENT PERSONAL GENOME MACHINE (PGM).; North K, Alexander I, Alexander S, Christodoulou J, Catchpoole D, Clarke N; National Health and Medical Research Council (NHMRC)/Equipment Grants.
  • The BD Influx High Speed Cell Sorter; Cunningham A, George J, Rizos H, Clarke C, Reddel R, Kefford R, North K, Stewart G, Jones C, Tam P, Alexander S, Gottlieb D, Bradstock K, Bryan T, Booth D, Bendall L, Brilot-Turville F, Hebbard L, Cooper S, Wang Y, Wang X; National Health and Medical Research Council (NHMRC)/Equipment Grants.

2010

  • Early identification of cognitive deficits in children with Neurofibromatosis Type 1; North K; DVC Research/Bridging Support Grant.
  • Westmead Correlative Light and Electron Microscope Suite; North K, Jones C, Christodoulou J, Murray R, O'Neill G, Cantrill L, Cunningham A, Kefford R, Clarke C, Henderson B, Bendall L, Turville S, Reddel R, Tam P, Robinson P, Bryan T, Braithwaite A; National Health and Medical Research Council (NHMRC)/Equipment Grants.

2009

  • The role of dysferlin in muscular dystrophy and membrane repair; Cooper S, North K; National Health and Medical Research Council (NHMRC)/Project Grants.
  • Deltavision (DV) Core Image Restoration; Cunningham A, Turville S, Clarke C, Henderson B, Kefford R, North K, O'Neill G, Murray R, Reddel R, Tam P, Robinson P, Chircop M; National Health and Medical Research Council (NHMRC)/Equipment Grants.
  • Congenital Fibre Type Disproportion (CFTD): Disease patterns and pathogenesis of muscle weakness.; Clarke N, North K; National Health and Medical Research Council (NHMRC)/Project Grants.

2008

  • Biolistic PDS-1000/Hepta Gene Transfer System; North K; National Health and Medical Research Council (NHMRC)/Equipment Grants.
  • The influence of alpha actinins on human performance in health and disease; North K, Hardeman E, Gunning P, Head S, Yang N; National Health and Medical Research Council (NHMRC)/Project Grants.
  • Molecular dissection of the effects of alpha-actinin-3 deficiency on normal variation in skeletal muscle function; North K, Huttley G; Australian Research Council (ARC)/Discovery Projects (DP).

2007

  • ICD100 Intensified MyoCam CCD Video Camera + Controller IMGACQ IonOptix Digital Image acquisition software FCS2 Micro-Perfusion Pump+ Micro-Perfusion pump Rod Mounting Clamp; North K, Gunning P, Winlaw D, McMahon A, Thomas S, Butler T; National Health and Medical Research Council (NHMRC)/Equipment Grants.

2006

  • The role of Aquaporins in Stunned Myocardium; Winlaw D, North K; National Health and Medical Research Council (NHMRC)/Project Grants.
  • Inherited muscle disorders - gene discovery, pathobiology and therapy; Laing N, Nowak K, North K, Nowak K; National Health and Medical Research Council (NHMRC)/Project Grants.

2005

  • Novel Features And Mechanisms Of Congenital Myopathies; Hardeman E, Hardeman E, North K; National Health and Medical Research Council (NHMRC)/Project Grants.

2004

  • Molecular pathology of collagen VI - related muscular dystrophies; North K, Lamande S; National Health and Medical Research Council (NHMRC)/Project Grants.
  • Discovering genes which modify human physical performance; Trent R, Yu B, North K, Easteal S, Gulbin J, Hahn A; Australian Research Council (ARC)/Discovery Projects (DP).
  • The role of dysferlin in skeletal muscle; North K; National Health and Medical Research Council (NHMRC)/Project Grants.
  • The influence of alpha actinins on human performance; Yang N, North K, Gunning P, Hardeman E; National Health and Medical Research Council (NHMRC)/Project Grants.
  • Paediatric and child health research: funding for strategic initiatives; North K; University of Sydney/Internal Research Grant Allocations - Medicine.

2003

  • LI-COR odyssey infrared imaging system plus assessories; Cunningham A, Diefenbach R, Kefford R, Farrell G, North K; National Health and Medical Research Council (NHMRC)/Equipment Grants.
  • PALM MicroBeam laser system with flourescent upgrade; North K, Clarke C, Cunningham A; National Health and Medical Research Council (NHMRC)/Equipment Grants.
  • Molecular and clinico-pathological investigation of congential myopathies; North K; National Health and Medical Research Council (NHMRC)/Project Grants.

2002

  • Genetic research into paediatric diseases - Spectrophotometer; North K; Rebecca L Cooper/Medical Research Foundation.

2001

  • MyoD-induced myogenesis: development of a new technique for the diagnosis and study of muscle disorders; North K; DVC Research/Research and Development Scheme: Research and Development (R&D).

2000

  • Leica CM1900 cryostat with peltier cooling and independent specimen cooling and disposable blades; leica cryoclean section waste removal system; North K; National Health and Medical Research Council (NHMRC)/Equipment Grants.
  • Characterisation of a novel human neuromuscular disease associated with deficiency of the syntrophins and dystrobrevin; North K, Phillips W; National Health and Medical Research Council (NHMRC)/Project Grants.

Selected publications

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Book Chapters

  • Payne, J., Pride, N., North, K. (2013). Cognition and Behaviour in Neurofibromatosis Type 1: Pathogenesis and Emerging Therapies. In Matthias A Karajannis, Jeffrey Allen (Eds.), Neurofibromatosis Type 1: Symptoms, Treatment and Prognosis, (pp. 117-146). Hauppauge NY, USA: Nova Science Publishers.
  • Waddell, L., Evesson, F., North, K., Cooper, S., Clarke, N. (2012). Diagnosis of the Muscular Dystrophies. In Madhuri Hegde & Arunkanth Ankala (Eds.), Muscular Dystrophy, (pp. 261-288). Rijeka, Croatia: InTech Publishers.
  • North, K., Shield, L. (2011). Muscle Disorders. In Jean Aicardi (Eds.), Diseases of the Nervous System in Childhood (3rd ed). Wiley.
  • North, K. (2009). Adolescent medicine: towards evidence based practice in a young specialty. In David Bennett, Susan Towns, Elizabeth Elliott, Joav Merrick (Eds.), Challenges in Adolescent Health: An Australian Perspective, (pp. ix-xi). United States: Nova Science Publishers.
  • North, K. (2009). Muscle Disorders. In Jean Aicardi (Eds.), Diseases of the Nervous System in Children. United States of America: Wiley-Blackwell Publishing.
  • North, K., Laing, N. (2008). Skeletal muscle alpha-actin diseases. In Nigel G. Laing (Eds.), The Sarcomere and Skeletal Muscle Disease, (pp. 15-27). New York: Springer Science + Business Media.
  • MacArthur, D., North, K. (2007). Genes and human elite athletic performance. In Pitsiladis Y; Bale J; Sharp C; Noakes T (Eds.), East African running: towards a cross-disciplinary perspective, (pp. 217-233). United States and Canada: Routledge imprint of Taylor & Francis.
  • North, K., Ryan, M. (2006). Congenital Myopathies. In John H. Noseworthy (Eds.), Neurological Therapeutics, Principles and Practice, (pp. 2607-2618). United Kingdom: Taylor & Francis.
  • North, K., Cooper, S. (2006). Protein diagnosis in the dystrophinopathies. In Jeffrey S. Chamberlain, Thomas A. Rando (Eds.), Duchenne muscular dystrophy: advances in Therapeutics, (pp. 105-118). United States of America: Taylor & Francis.
  • North, K., Ryan, M. (2005). Congenital Myopathies. In Harvey S. Singer, Eric H. Kossoff, Adam L. Hartman, Thomas O. Crawford (Eds.), Treatment of Pediatric Neurologic disorders, (pp. 185-190). United States of America: Taylor & Francis.
  • North, K. (2004). Congenital Myopathies. In Andrew G. Engel, Clara Franzini-Armstrong (Eds.), Myology: basic and clinical, 3rd Edition, (pp. 1473-1533). New York , USA: McGraw-Hill Professional Publishing.
  • Jones, K., North, K. (2003). Congenital Muscular Dystrophies. In H. R. Jones, D. C. De Vivo, B. T. Darras (Eds.), Neuromuscular Disorders Of Infancy, Childhood, And Adolescence: A Clinicians Approach, (pp. 633-647). Amsterdam: Butterworth Heinemann.
  • North, K., Goebel, H. (2003). Congenital Myopathies. In H. R. Jones, D. C. De Vivo, B. T. Darras (Eds.), Neuromuscular Disorders Of Infancy, Childhood, And Adolescence: A Clinicians Approach, (pp. 601-632). Amsterdam: Butterworth Heinemann.
  • Swoboda, K., North, K., Specht, L. (2003). Spinal Muscular Atrophy. In Samuelss, Feske (Eds.), Office Practice of Neurology, 2nd Edition, (pp. 553-557). USA: Churchill Livingstone.
  • Ratner, N., North, K. (2003). The central nervous system in neurofibromatiosis type 1. In Gene S. Fisch (Eds.), Genetics And Genomics Of Neurobehavioral Disorders, (pp. 97-131). USA: Humana Press.
  • North, K. (2002). Nemaline Myopathy. In R. A. Pagon T. D. Bird, C. R. Dolan, G. L. Feldman, R. J. Smith, N. Stevens (Eds.), Gene Reviews (formerly Gene Clinics), (pp. 1-19). Seattle: BMJ Publishing Group.

Journals

  • Garton, F., Seto, J., Quinlan (nee Edwards), K., Yang, N., Houweling, P., North, K. (2014). alpha-Actinin-3 deficiency alters muscle adaptation in response to denervation and immobilisation. Human Molecular Genetics, 23(7), 1879-1893. [More Information]
  • North, K., Wang, C., Clarke, N., Jungbluth, H., Vainzof, M., Dowling, J., Amburgey, K., Quijano-Roy, S., Beggs, A., Sewry, C., et al (2014). Approach to the diagnosis of congenital myopathies. Neuromuscular Disorders, 24(2), 97-116. [More Information]
  • Thomas, K., Zheng, X., Garces Suarez, F., Raftery, J., Quinlan (nee Edwards), K., Yang, N., North, K., Houweling, P. (2014). Evidence based selection of commonly used RT-qPCR reference genes for the analysis of mouse skeletal muscle. PLoS One, 9(2), e88653- 1-e88653- 11. [More Information]
  • Payne, J., Pickering, T., Porter, M., Oates, E., Walia, N., Prelog, K., North, K. (2014). Longitudinal assessment of cognition and T2-hyperintensities in NF1: An 18-year study. American Journal of Medical Genetics. Part A, 164(3), 661-665. [More Information]
  • Sullivan, K., El-Hoss, J., Quinlan (nee Edwards), K., Deo, N., Garton, F., Seto, J., Gdalevitch, M., Turner, N., Cooney, G., Kolanczyk, M., North, K., Little, D., Schindeler, A. (2014). NF1 is a critical regulator of muscle development and metabolism. Human Molecular Genetics, 23(5), 1250-1259. [More Information]
  • Champion, J., Rose, K., Payne, J., Burns, J., North, K. (2014). Relationship between cognitive dysfunction, gait, and motor impairment in children and adolescents with neurofibromatosis type 1. Developmental Medicine and Child Neurology, 56(5), 468-474. [More Information]
  • Thomas, K., Hamilton (Ellis), N., North, K., Houweling, P. (2014). Sequence analysis of the Equine ACTN3 Gene in Australian horse breeds. Gene, 538(1), 88-93. [More Information]
  • Pride, N., Korgaonkar, M., Barton, B., Payne, J., Vucic, S., North, K. (2014). The genetic and neuroanatomical basis of social dysfunction: Lessons from neurofibromatosis type 1. Human Brain Mapping, 35(5), 2372-2382. [More Information]
  • Clarke, N., Amburgey, K., Teener, J., Camelo-Piragua, S., Kesari, A., Punetha, J., Waddell, L., Davis, M., Laing, N., Monnier, N., North, K., et al (2013). A novel mutation expands the genetic and clinical spectrum of MYH7-related myopathies. Neuromuscular Disorders, 23(5), 432-436. [More Information]
  • Friedlander, S., Herrmann, A., Lowry, D., Mepham, E., Lek, M., North, K., Organ, C. (2013). ACTN3 Allele Frequency in Humans Covaries with Global Latitudinal Gradient. PLoS One, 8(1), 1-4. [More Information]
  • Seto, J., Quinlan (nee Edwards), K., Lek, M., Zheng, X., Garton, F., MacArthur, D., Hogarth, M., Houweling, P., Gregorevic, P., Turner, N., Yang, N., North, K., et al (2013). ACTN3 genotype infuences muscle performance through the regulation of calcineurin signaling. Journal of Clinical Investigation, 123(10), 4255-4263. [More Information]
  • Wang, G., Mikami, E., Chiu, L., de Perini, A., Deason, M., Fuku, N., Miyachi, M., Kaneoka, K., Murakami, H., Tanaka, M., North, K., et al (2013). Association analysis of ACE and ACTN3 in Elite Caucasian and East Asian Swimmers. Medicine and Science in Sports and Exercise, 45(5), 892-900. [More Information]
  • Lek, A., Evesson, F., Lemckert, F., Redpath, G., Lueders, A., Turnbull, L., Whitchurch, C., North, K., Cooper, S. (2013). Calpains, Cleaved Mini-DysferlinC72, and L-Type Channels Underpin Calcium-Dependent Muscle Membrane Repair. The Journal of Neuroscience, 33(12), 5085-5094. [More Information]
  • Lorenzo, J., Barton, B., Arnold, S., North, K. (2013). Cognitive Features that Distinguish Preschool-Age Children with Neurofibromatosis Type 1 from Their Peers: A Matched Case-Control Study. The Journal of Pediatrics, 163(5), 1479-1483. [More Information]
  • Eynon, N., Hanson, E., Lucia, A., Houweling, P., Garton, F., North, K., Bishop, D. (2013). Genes for elite power and sprint performance: ACTN3 leads the way. Sports Medicine, 43(9), 803-817. [More Information]
  • Mokbel, N., Ilkovski, B., Kreissl, M., Memo, M., Jeffries, C., Marttila, M., Lehtokari, V., Lemola, E., Gronholm, M., Yang, N., Trewhella, J., North, K., Clarke, N., et al (2013). K7del is a common TPM2 gene mutation associated with nemaline myopathy and raised myofibre calcium sensitivity. Brain, 136(2), 494-507. [More Information]
  • Carss, K., Stevens, E., Foley, A., Cirak, S., Riemersma, M., Torelli, S., Hoischen, A., Willer, T., Van Scherpenzeel, M., Moore, S., Young, H., North, K., et al (2013). Mutations in GDP-Mannose Pyrophosphorylase B Cause Congenital and Limb-Girdle Muscular Dystrophies Associated with Hypoglycosylation of α-Dystroglycan. American Journal of Human Genetics, 93(1), 29-41. [More Information]
  • Foley, A., Quijano-Roy, S., Collins, J., Straub, V., McCallum, M., Deconinck, N., Mercuri, E., Pane, M., D'Amico, A., Bertini, E., North, K., et al (2013). Natural history of pulmonary function in collagen VI-related myopathies. Brain, 136, 3625-3633. [More Information]
  • Payne, J., Barton, B., Shores, E., North, K. (2013). Paired associate learning in children with neurofibromatosis type 1: implications for clinical trials. Journal of Neurology, 260(1), 214-220. [More Information]
  • Pride, N., Crawford, H., Payne, J., North, K. (2013). Social functioning in adults with neurofibromatosis type 1. Research in Developmental Disabilities, 34(10), 3393-3399. [More Information]
  • Oates, E., Payne, J., Foster, S., Clarke, N., North, K. (2013). Young Australian Adults With NF1 Have Poor Access to Health Care, High Complication Rates, and Limited Disease Knowledge. American Journal of Medical Genetics. Part A, 161(4), 659-666. [More Information]
  • Fitzsimons, D., Jones, D., Barton, B., North, K. (2012). A procedure for the computerised analysis of cleft palate speech transcription. Clinical Linguistics and Phonetics, 26(1), 18-38. [More Information]
  • Oates, E., Reddel, S., Rodriguez, M., Gandolfo, L., Bahlo, M., Hawke, S., Lamande, S., Clarke, N., North, K. (2012). Autosomal dominant congenital spinal muscular atrophy: a true form of spinal muscular atrophy caused by early loss of anterior horn cells. Brain: a journal of neurology, 135(6), 1714-1723. [More Information]
  • Huson, S., Acosta, M., Belzberg, A., Bernards, A., Chernoff, J., Cichowski, K., Evans, D., Ferner, R., Giovannini, M., Korf, B., North, K., et al (2012). Back to the future: Proceedings from the 2010 NF Conference. American Journal of Medical Genetics. Part A, 155(2), 307-321. [More Information]
  • Biancalana, V., Beggs, A., Das, S., Jungbluth, H., Kress, W., Nishino, I., North, K., Romero, N., Laporte, J. (2012). Clinical utility gene card for: Centronuclear and myotubular myopathies. European Journal of Human Genetics, 20(10), 1-5. [More Information]
  • Wang, C., Dowling, J., North, K., Schroth, M., Sejersen, T., Shapiro, F., Bellini, J., Weiss, H., Guillet, M., Amburgey, K., Clarke, N., Fitzgerald, D., Munns, C., Rose, K., et al (2012). Consensus statement on standard of care for congenital myopathies. Journal of Child Neurology, 27(3), 363-382. [More Information]
  • Payne, J., Arnold, S., Pride, N., North, K. (2012). Does attention-deficit-hyperactivity disorder exacerbate executive dysfunction in children with neurofibromatosis type 1? Developmental Medicine and Child Neurology, 54(10), 898-904. [More Information]
  • Lek, A., Evesson, F., Sutton, B., North, K., Cooper, S. (2012). Ferlins: Regulators of Vesicle Fusion for Auditory Neurotransmission, Receptor Trafficking and Membrane Repair. Traffic (Malden), 13(2), 185-194. [More Information]
  • Menezes, M., Waddell, L., Evesson, F., Cooper, S., Webster, R., Jones, K., Mowat, D., Kiernan, M., Johnston, H., Corbett, A., North, K., Clarke, N., et al (2012). Importance and challenge of making an early diagnosis in LMNA-related muscular dystrophy. Neurology, 78(16), 1258-1263. [More Information]
  • Menezes, M., North, K. (2012). Inherited neuromuscular disorders: Pathway to diagnosis. Journal of Paediatrics and Child Health, 48(6), 458-465. [More Information]
  • Rose, K., Burns, J., North, K. (2012). Interventions for increasing ankle flexibility in patients with neuromuscular disease: A Cochrane Systematic Review. Neuromuscular Disorders, 22(9), 885-885.
  • Clarke, N., Waddell, L., Sie, L., van Bon, B., McLean, C., Clark, D., Kornberg, A., Lammens, M., North, K. (2012). Mutations in TPM2 and congenital fibre type disproportion. Neuromuscular Disorders, 22(11), 955-958. [More Information]
  • Kalamarides, M., Acosta, M., Babovic-Vuksanovic, D., Carpen, O., Cichowski, K., Evans, D., Giancotti, F., Hanemann, C., Ingram, D., Lloyd, A., North, K., et al (2012). Neurofibromatosis 2011: a report of the Childrens Tumor Foundation annual meeting. Acta Neuropathologica, 123(3), 369-380. [More Information]
  • Johnson, K., Fisher, M., Listernick, R., North, K., Schorry, E., Viskochil, D., Weinstein, M., Rubin, J., Gutmann, D. (2012). Parent-of-origin in individuals with familial neurofibromatosis type 1 and optic pathway gliomas. Familial Cancer, 11(4), 653-656. [More Information]
  • Anderson, V., McKenzie, J., Seton, C., Fitzgerald, D., Webster, R., North, K., Joffe, D., Young, H. (2012). Sniff nasal inspiratory pressure and sleep disordered breathing in childhood neuromuscular disorders. Neuromuscular Disorders, 22(6), 528-533. [More Information]
  • Pride, N., Payne, J., North, K. (2012). The Impact of ADHD on the Cognitive and Academic Functioning of Children With NF1. Developmental Neuropsychology, 37(7), 590-600. [More Information]
  • Acosta, M., Bearden, C., Castellanos, X., Cutting, L., Elgersma, Y., Gioia, G., Gutmann, D., Lee, Y., Legius, E., Muenke, M., North, K., et al (2012). The Learning Disabilities Network (LeaDNet): using neurofibromatosis type 1 (NF1) as a paradigm for translational research. American Journal of Medical Genetics. Part A, 158A (9), 2225-2232. [More Information]
  • Ardern-Holmes, S., North, K. (2012). Treatment for plexiform neurofibromas in patients with NF1. The Lancet Oncology, 13(12), 1175-1176. [More Information]
  • Waddell, L., Tran, J., Zheng, X., Bonnemann, C., Hu, Y., Evesson, F., Lek, M., Arbuckle, S., Wang, M., Smith, R., North, K., Clarke, N. (2011). A study of FHL1, BAG3, MATR3, PTRF and TCAP in Australian muscular dystrophy patients. Neuromuscular Disorders, 21(11), 776-781. [More Information]
  • Wang, D., Nykanen, M., Yang, N., Winlaw, D., North, K., Verkman, A., Owler, B. (2011). Altered cellular localization of aquaporin-1 in experimental hydrocephalus in mice and reduced ventriculomegaly in aquaporin-1 deficiency. Molecular and Cellular Neuroscience, 46(4), 318-324. [More Information]
  • Payne, J., Hyman, S., Shores, E., North, K. (2011). Assessment of executive function and attention in children with neurofibromatosis type 1: Relationships between cognitive measures and real-world behavior. Neuropsychology, Development, and Cognition. Section C: Child Neuropsychology, 17(4), 313-329. [More Information]
  • North, K. (2011). Clinical approach to the diagnosis of congenital myopathies. Seminars in Pediatric Neurology, 18(4), 216-220. [More Information]
  • Seto, J., Lek, M., Quinlan (nee Edwards), K., Houweling, P., Zheng, X., Garton, F., Macarthur, D., Raftery, J., Garvey, S., Hauser, M., North, K., et al (2011). Deficiency of a-actinin-3 is associated with increased susceptibility to contraction-induced damage and skeletal muscle remodeling. Human Molecular Genetics, 20(15), 2914-2927. [More Information]
  • Waddell, L., Lemckert, F., Zheng, X., Tran, J., Evesson, F., Hawkes, J., Lek, A., Street, N., Lin, P., Clarke, N., North, K., Cooper, S., et al (2011). Dysferlin, Annexin A1, and Mitsugumin 53 Are Upregulated in Muscular Dystrophy and Localize to Longitudinal Tubules of the T-System With Stretch. Journal of Neuropathology and Experimental Neurology, 70(4), 302-313. [More Information]
  • Yiu, E., Klausegger, A., Waddell, L., Grasern, N., Lloyd, L., Tran, K., North, K., Bauer, J., McKelvie, P., Chow, C., et al (2011). Epidermolysis bullosa with late-onset muscular dystrophy and plectin deficiency. Muscle and Nerve, 44(1), 135-141. [More Information]
  • Ravenscroft, G., Sollis, E., Charles, A., North, K., Baynam, G., Laing, N. (2011). Fetal akinesia: review of the genetics of the neuromuscular causes. Journal of Medical Genetics, 48(12), 793-801. [More Information]
  • Bray, P., Bundy, A., Ryan, M., North, K., Burns, J. (2011). Health status of boys with Duchenne muscular dystrophy: A parent's perspective. Journal of Paediatrics and Child Health, 47, 557-562. [More Information]
  • Nguyen, M., Joya, J., Kee, A., Domazetovska, A., Yang, N., Hook, J., Lemckert, F., Kettle, E., Valova, V., Robinson, P., North, K., et al (2011). Hypertrophy and dietary tyrosine ameliorate the phenotypes of a mouse model of severe nemaline myopathy. Brain: a journal of neurology, 134(Pt12), 3516-3529. [More Information]
  • Au, C., Butler, T., Sherwood, M., Egan, J., North, K., Winlaw, D. (2011). Increased connective tissue growth factor associated with cardiac fibrosis in the mdx mouse model of dystrophic cardiomyopathy. International Journal of Experimental Pathology: mechanisms and models of disease, 92(1), 57-65. [More Information]
  • Pistilli, E., Bogdanovich, S., Garton, F., Yang, N., Gulbin, J., Conner, J., Anderson, B., Quinn, L., North, K., Ahima, R., et al (2011). Loss of IL-15 receptor α alters the endurance, fatigability, and metabolic characteristics of mouse fast skeletal muscles. Journal of Clinical Investigation, 121(8), 3120-3132. [More Information]
  • Lorenzo, J., Barton, B., Acosta, M., North, K. (2011). Mental, Motor, and Language Development of Toddlers with Neurofibromatosis Type 1. The Journal of Pediatrics, 158(4), 660-665. [More Information]
  • Koutsopoulos, O., Koch, C., Tosch, V., Bohm, J., North, K., Laporte, J. (2011). Mild Functional Differences of Dynamin 2 Mutations Associated to Centronuclear Myopathy and Charcot-Marie-Tooth Peripheral Neuropathy. PLoS One, 6(11), Article number e27498-1-Article number e27498-13. [More Information]
  • Lo, H., Bertini, E., Mirabella, M., Domazetovska, A., Dale, R., Petrini, S., D'Amico, A., Valente, E., Barresi, R., Roberts, M., Cooper, S., North, K., et al (2011). Mosaic Caveolin-3 Expression in Acquired Rippling Muscle Disease Without Evidence of Myasthenia Gravis or Acetylcholine Receptor Autoantibodies. Neuromuscular Disorders, 21(3), 194-203. [More Information]
  • Chan, S., Seto, J., Houweling, P., Yang, N., North, K., Head, S. (2011). Properties of extensor digitorum longus muscle and skinned fibers from adult and aged male and female ACTN3 knockout mice. Muscle and Nerve, 43(1), 37-48. [More Information]
  • Sangster, J., Shores, E., Watt, S., North, K. (2011). The Cognitive Profile of Preschool-Aged Children with Neurofibromatosis Type 1. Neuropsychology, Development, and Cognition. Section C: Child Neuropsychology, 17(1), 1-16. [More Information]
  • Seto, J., Chan, S., Turner, N., MacArthur, D., Raftery, J., Berman, Y., Quinlan (nee Edwards), K., Cooney, G., Head, S., Yang, N., North, K. (2011). The effect of α-actinin-3 deficiency on muscle aging. Experimental Gerontology, 46(4), 292-302. [More Information]
  • Ardern-Holmes, S., North, K. (2011). Therapeutics for Childhood Neurofibromatosis Type 1 and Type 2. Current Treatment Options in Neurology, 13(6), 529-543. [More Information]
  • Waddell, L., Monnier, N., Cooper, S., North, K., Clarke, N. (2011). Using complementary DNA from MyoD-transduced fibroblasts to sequence large muscle genes. Muscle and Nerve, 44(2), 280-282. [More Information]
  • Yang, N., Schindeler, A., McDonald, M., Seto, J., Houweling, P., Lek, M., Hogarth, M., Morse, A., Raftery, J., Balasuriya, D., Berman, Y., Quinlan (nee Edwards), K., Little, D., North, K., et al (2011). α-Actinin-3 deficiency is associated with reduced bone mass in human and mouse. Bone, 49(4), 790-798. [More Information]
  • Berman, Y., North, K. (2010). A Gene for Speed: The Emerging Role of {alpha}-Actinin-3 in Muscle Metabolism. Physiology, 25(4), 250-259. [More Information]
  • Scott, R., IRVING, R., Irwin, L., Morrison, E., Charlton, V., Austin, K., Tladi, D., Deason, M., Headley, S., Kolkhorst, F., North, K., et al (2010). ACTN3 and ACE genotypes in elite Jamaican and US sprinters. Medicine and Science in Sports and Exercise, 42(1), 107-112. [More Information]
  • Quinlan (nee Edwards), K., Seto, J., Turner, N., Vandebrouck, A., Floetenmeyer, M., Macarthur, D., Raftery, J., Lek, M., Yang, N., Parton, R., North, K., et al (2010). Alpha-actinin-3 deficiency results in reduced glycogen phosphorylase activity and altered calcium handling in skeletal muscle. Human Molecular Genetics, 19(7), 1335-1346. [More Information]
  • Lek, M., North, K. (2010). Are biological sensors modulated by their structural scaffolds? The role of the structural muscle proteins alpha-actinin-2 and alpha-actinin-3 as modulators of biological sensors. FEBS Letters, 584(14), 2974-2980. [More Information]
  • Payne, J., Moharir, M., Webster, R., North, K. (2010). Brain structure and function in neurofibromatosis type 1: current concepts and future directions. Journal of Neurology, Neurosurgery and Psychiatry, 81(3), 304-309. [More Information]
  • Tooley, L., Zamurs, L., Beecher, N., Baker, N., Peat, R., Adams, N., Bateman, J., North, K., Baldock, C., Lamande, S. (2010). Collagen VI microfibril formation is abolished by an {alpha}2(VI) von Willebrand factor A-domain mutation in a patient with Ullrich congenital muscular dystrophy. Journal of Biological Chemistry, 285(43), 33567-33576. [More Information]
  • Pride, N., Payne, J., Webster, R., Shores, E., Rae, C., North, K. (2010). Corpus Callosum Morphology and Its Relationship to Cognitive Function in Neurofibromatosis Type 1. Journal of Child Neurology, 25(7), 834-841. [More Information]
  • Sambuughin, N., Yau, K., Olive, M., Duff, R., Bayarsaikhan, M., Lu, S., Gonzales-Mera, L., Sivadorai, P., Nowak, K., Ravenscroft, G., North, K., et al (2010). Dominant mutations in KBTBD13, a member of the BTB/Kelch family, cause nemaline myopathy with cores. American Journal of Human Genetics, 87(6), 842-847. [More Information]
  • Waddell, L., Kreissl, M., Kornberg, A., Kennedy, P., McLean, C., Labarre-Vila, A., Monnier, N., North, K., Clarke, N. (2010). Evidence for a dominant negative disease mechanism in cap myopathy due to TPM3. Neuromuscular Disorders, 20(7), 464-466. [More Information]
  • Susman, R., Quijano-Roy, S., Yang, N., Webster, R., Clarke, N., Dowling, J., Kennerson, M., Nicholson, G., Biancalana, V., Ilkovski, B., Vucic, S., North, K., et al (2010). Expanding the clinical, pathological and MRI phenotype of DNM2-related centronuclear myopathy. Neuromuscular Disorders, 20(4), 229-237. [More Information]
  • Bray, P., Bundy, A., Ryan, M., North, K. (2010). Feasibility of a computerized method to measure quality of "everyday" life in children with neuromuscular disorders. Physical and Occupational Therapy in Pediatrics, 30(1), 43-53. [More Information]
  • Bray, P., Bundy, A., Ryan, M., North, K., Everett, A. (2010). Health-related Quality of Life in Boys With Duchenne Muscular Dystrophy: Agreement Between Parents and Their Sons. Journal of Child Neurology, 25(10), 1188-1194. [More Information]
  • Vandebrouck, A., Domazetovska, A., Mokbel, N., Cooper, S., Ilkovski, B., North, K. (2010). In Vitro Analysis of Rod Composition and Actin Dynamics in Inherited Myopathies. Journal of Neuropathology and Experimental Neurology, 69(5), 429-441. [More Information]
  • Rose, K., Burns, J., Wheeler, D., North, K. (2010). Interventions for increasing ankle range of motion in patients with neuromuscular disease (Review). Cochrane Database of Systematic Reviews, 17(2), 1-53. [More Information]
  • Lek, A., Lek, M., North, K., Cooper, S. (2010). Phylogenetic analysis of ferlin genes reveals ancient eukaryotic origins. BMC Evolutionary Biology, 10(1), 231-1-231-15. [More Information]
  • Lek, M., MacArthur, D., Yang, N., North, K. (2010). Phylogenetic analysis of gene structure and alternative splicing in {alpha}-actinins. Molecular Biology and Evolution, 27(4), 773-780. [More Information]
  • Chan, S., Seto, J., Houweling, P., Yang, N., North, K., Head, S. (2010). Properties of extensor digitorum longus muscle and skinned fibers from adult and aged male and female Actn3 knockout mice. Muscle and Nerve, 43(1), 1-12. [More Information]
  • Clarke, N., Waddell, L., Cooper, S., Perry, M., Smith, R., Kornberg, A., Muntoni, F., Lillis, S., Straub, V., Bushby, K., North, K., et al (2010). Recessive Mutations in RYR1 Are a Common Cause of Congenital Fiber Type Disproportion. Human Mutation, 31(7), E1544-E1550. [More Information]
  • Evesson, F., Peat, R., Lek, A., Brilot-Turville, F., Lo, H., Dale, R., Parton, R., North, K., Cooper, S. (2010). Reduced Plasma Membrane Expression of Dysferlin Mutants Is Attributed to Accelerated Endocytosis via a Syntaxin-4-associated Pathway. Journal of Biological Chemistry, 285(37), 28529-28539. [More Information]
  • Rose, K., Raymond, J., Refshauge, K., North, K., Burns, J. (2010). Serial night casting increases ankle dorsiflexion range in children and young adults with Charcot-Marie-Tooth disease: a randomised trial. Journal of Physiotherapy, 56(2), 113-119. [More Information]
  • Lek, M., Quinlan (nee Edwards), K., North, K. (2010). The evolution of skeletal muscle performance: gene duplication and divergence of human sarcomeric alpha-actinins. BioEssays, 32(1), 17-25. [More Information]
  • Moharir, M., London, K., Howman-Giles, R., North, K. (2010). Utility of positron emission tomography for tumour surveillance in children with neurofibromatosis type 1. European Journal of Nuclear Medicine and Molecular Imaging, 37(7), 1309-1317. [More Information]
  • Garton, F., Seto, J., North, K., Yang, N. (2010). Validation of an automated computational method for skeletal muscle fibre morphometry analysis. Neuromuscular Disorders, 20(8), 540-547. [More Information]
  • Ferner, R., Huson, S., Kalamarides, M., Mautner, V., McCormick, F., Morrison, H., Packer, R., Ramesh, V., Hunter-Schaedle, K., North, K., et al (2010). What's new in neurofibromatosis? Proceedings from the 2009 NF Conference: new frontiers. American Journal of Medical Genetics. Part A, 152(2), 269-283. [More Information]
  • Yang, N., Garton, F., North, K. (2009). alpha-actinin-3 and performance. Medicine and Sport Science, 54, 88-101. [More Information]
  • Clarke, N., Domazetovska, A., Waddell, L., Kornberg, A., McLean, C., North, K. (2009). Cap disease due to mutation of the beta-tropomyosin gene (TPM2). Neuromuscular Disorders, 19(5), 348-351. [More Information]
  • Egan, J., Butler, T., Graf, F., Au, C., McMahon, A., North, K., Winlaw, D. (2009). Dysfunction induced by ischemia versus edema: does edema matter? The Journal of Thoracic and Cardiovascular Surgery, 138(1), 141-147. [More Information]
  • Bastiani, M., Liu, L., Hill, M., Jedrychowski, M., Nixon, S., Lo, H., Abankwa, D., Luetterforst, R., Fernandez-Rojo, M., Breen, M., North, K., et al (2009). MURC/Cavin-4 and cavin family members form tissue-specific caveolar complexes. The Journal of Cell Biology, 185(7), 1259-1273. [More Information]
  • Liu, R., Ginn, S., Lek, M., North, K., Alexander, I., Little, D., Schindeler, A. (2009). Myoblast sensitivity and fibroblast insensitivity to osteogenic conversion by BMP-2 correlates with the expression of Bmpr-1 a. BMC Musculoskeletal Disorders, 10, 51-1-51-12. [More Information]
  • Egan, J., Butler, T., Cole, A., Abraham, S., Murala, J., Baines, D., Street, N., Thompson, L., Biecker, O., Dittmer, J., Cooper, S., Au, C., North, K., Winlaw, D. (2009). Myocardial membrane injury in pediatric cardiac surgery: An animal model. The Journal of Thoracic and Cardiovascular Surgery, 137(5), 1154-1162. [More Information]
  • Rose, K., Raymond, J., Refshauge, K., North, K., Burns, J. (2009). Randomised trial of night casting for ankle contracture in children with Charcot-Marie-Tooth Disease. Journal of the Peripheral Nervous System, 14(Supplement), 128-128.
  • Rose, K., Burns, J., North, K. (2009). Relationship between foot strength and motor function in preschool-age children. Neuromuscular Disorders, 19(2), 104-107. [More Information]
  • Houweling, P., North, K. (2009). Sarcomeric α-actinins and their role in human muscle disease. Future Neurology, 4(6), 731-743. [More Information]
  • Chan, S., Seto, J., MacArthur, D., Yang, N., North, K., Head, S. (2008). A gene for speed: contractile properties of isolated whole EDL muscle from an {alpha}-actinin-3 knockout mouse. American Journal of Physiology: Cell Physiology, 295(4), C897-C904. [More Information]
  • MacArthur, D., Seto, J., Chan, S., Quinlan (nee Edwards), K., Raftery, J., Turner, N., Nicholson, M., Kee, A., Hardeman, E., Gunning, P., North, K., et al (2008). An Actn3 knockout mouse provides mechanistic insights into the association between alpha-actinin-3 deficiency and human athletic performance. Human Molecular Genetics, 17(8), 1076-1086. [More Information]
  • Clement, E., Mercuri, E., Godfrey, C., Smith, J., Robb, S., Kinali, M., Straub, V., Bushby, K., Manzur, A., Talim, B., North, K., et al (2008). Brain involvement in muscular dystrophies with defective dystroglycan glycosylation. Annals of Neurology, 64(5), 573-582. [More Information]
  • Cairns, A., North, K. (2008). Cerebrovascular dysplasia in neurofibromatosis type 1. Journal of Neurology, Neurosurgery and Psychiatry, 79, 1165-1170. [More Information]
  • Au, C., Butler, T., Egan, J., Cooper, S., Lo, H., Compton, A., North, K., Winlaw, D. (2008). Changes in skeletal muscle expression of AQP1 and AQP4 in dystrophinopathy and dysferlinopathy patients. Acta Neuropathologica, 116(3), 235-246. [More Information]
  • Young, H., Barton, B., Waisbren, S., Dale, L., Ryan, M., Webster, R., North, K. (2008). Cognitive and psychological profile of males with Becker muscular dystrophy. Journal of Child Neurology, 23(2), 155-162. [More Information]
  • Pace, R., Peat, R., Baker, N., Zamurs, L., Morgelin, M., Irving, M., Adams, N., Bateman, J., Mowat, D., Smith, N., North, K., et al (2008). Collagen VI glycine mutations: perturbed assembly and a spectrum of clinical severity. Annals of Neurology, 64(3), 294-303. [More Information]
  • Ryan, M., Sy, C., Rudge, S., Ellaway, C., Ketteridge, D., Roddick, L., Iannaccone, S., Kornberg, A., North, K. (2008). Dietary L-Tyrosine Supplementation in Nemaline Myopathy. Journal of Child Neurology, 23(6), 609-613. [More Information]
  • Ilkovski, B., Mokbel, N., Lewis, R., Walker, K., Nowak, K., Domazetovska, A., Laing, N., Fowler, V., North, K., Cooper, S. (2008). Disease Severity and Thin Filament Regulation in M9R TPM3 Nemaline Myopathy. Journal of Neuropathology and Experimental Neurology, 67(9), 867-877. [More Information]
  • Peat, R., Gecz, J., Fallon, J., Tarpey, P., Smith, R., Futreal, A., Stratton, M., Lamande, S., Yang, N., North, K. (2008). Exclusion of biglycan mutations in a cohort of patients with neuromuscular disorders. Neuromuscular Disorders, 18(8), 606-609. [More Information]
  • Burns, J., Bray, P., Cross, L., North, K., Ouvrier, R., Ryan, M. (2008). Hand involvement in children with Charcot-Marie-Tooth disease type 1A. Neuromuscular Disorders, 18(12), 970-973. [More Information]
  • Rose, K., Burns, J., Wheeler, D., North, K. (2008). Interventions for increasing ankle range of motion in patients with neuromuscular disease (Protocol). Cochrane Database of Systematic Reviews, cd 006973(1), 1-14. [More Information]
  • Lo, H., Cooper, S., Evesson, F., Seto, J., Chiotis, M., Tay, V., Compton, A., Cairns, A., Corbett, A., MacArthur, D., North, K., et al (2008). Limb-girdle muscular dystrophy: Diagnostic evaluation, frequency and clues to pathogenesis. Neuromuscular Disorders, 18(1), 34-44. [More Information]
  • Martin, P., Shelton, G., Dickinson, P., Sturges, B., Xu, R., LeCouteur, R., Guo, L., Grahn, R., Lo, H., North, K., Malik, R., et al (2008). Muscular dystrophy associated with alpha-dystroglycan deficiency in Sphynx and Devon Rex cats. Neuromuscular Disorders, 18(12), 942-52. [More Information]
  • Compton, A., Albrecht, D., Seto, J., Cooper, S., Ilkovski, B., Jones, K., Challis, D., Mowat, D., Ranscht, B., Bahlo, M., North, K., et al (2008). Mutations in Contactin-1, a Neural Adhesion and Neuromuscular Junction Protein, Cause a Familial Form of Lethal Congenital Myopathy. American Journal of Human Genetics, 83(6), 714-724. [More Information]
  • Clarke, N., Kolski, H., Dye, D., Lim, E., Smith, R., Patel, R., Fahey, M., Bellance, R., Romero, N., Johnson, E., North, K., et al (2008). Mutations in TPM3 are a common cause of congenital fiber type disproportion. Annals of Neurology, 63(3), 329-337. [More Information]
  • Egan, J., Butler, T., Cole, A., Aharonyan, A., Baines, D., Street, N., Navaratnam, M., Biecker, O., Zazulak, C., Au, C., North, K., Winlaw, D., et al (2008). Myocardial ischemia is more important than the effects of cardiopulmonary bypass on myocardial water handling and postoperative dysfunction: A pediatric animal model. The Journal of Thoracic and Cardiovascular Surgery, 136(5), 1265-1273. [More Information]
  • Rose, K., Burns, J., Ryan, M., Ouvrier, R., North, K. (2008). Reliability of quantifying foot and ankle muscle strength in very young children. Muscle and Nerve, 37(5), 626-631. [More Information]
  • Peat, R., Smith, J., Compton, A., Baker, N., Pace, R., Burkin, D., Kaufman, S., Lamande, S., North, K. (2008). The diagnosis and etiology of congenital muscular dystrophy. Neurology, 71(5), 312-321. [More Information]
  • Amsili, S., Zer, H., Hinderlich, S., Krause, S., MacArthur, D., Becker-Cohen, M., North, K., Mitrani-Rosenbaum, S. (2008). UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase (GNE) binds to alpha-actinin 1: novel pathways in skeletal muscle? PLoS One, 3(6), e2477 - 1-e2477 - 9. [More Information]
  • North, K. (2008). What's new in congenital myopathies? Neuromuscular Disorders, 18(6), 433-442. [More Information]
  • North, K. (2008). Why is {alpha}-Actinin-3 Deficiency So Common in the General Population? The Evolution of Athletic Performance. Twin Research and Human Genetics, 11(4), 384-394. [More Information]
  • MacArthur, D., North, K. (2007). ACTN3: A genetic influence on muscle function and athletic performance. Exercise and Sport Sciences Reviews, 35(1), 30-34. [More Information]
  • Watt, S., Shores, E., North, K. (2007). An Examination of Lexical and Sublexical Reading Skills in Children with Neurofibromatosis Type 1. Neuropsychology, Development, and Cognition. Section C: Child Neuropsychology, 14(5), 401-418. [More Information]
  • Moran, C., Yang, N., Bailey, M., Tsiokanos, A., Jamurtas, A., MacArthur, D., North, K., Pitsiladis, Y., Wilson, R. (2007). Association analysis of the ACTN3 R577X polymorphism and complex quantitative body composition and performance phenotypes in adolescent Greeks. European Journal of Human Genetics, 15, 88-93.
  • Dulai, S., Briody, J., Schindeler, A., North, K., Cowell, C., Little, D. (2007). Decreased bone mineral density in neurofibromatosis type 1: results from a pediatric cohort. Journal of Pediatric Orthopaedics, 27(4), 472-475. [More Information]
  • Eisenberg, I., Eran, A., Nishino, I., Moggio, M., Lamperti, C., Amato, A., Lidov, H., Kang, P., North, K., Mitrani-Rosenbaum, S., et al (2007). Distinctive patterns of microRNA expression in primary muscular disorders. Proceedings of the National Academy of Sciences (PNAS) of the United States of America, 104(43), 17016-17021. [More Information]
  • Cooper, S., Kizana, E., Yates, J., Lo, H., Yang, N., Wu, Z., Alexander, I., North, K. (2007). Dystrophinopathy carrier determination and detection of protein deficiencies in muscular dystrophy using lentiviral MyoD-forced myogenesis. Neuromuscular Disorders, 17(4), 276-284. [More Information]
  • Domazetovska, A., Ilkovski, B., Kumar, V., Valova, V., Vandebrouck, A., Hutchinson, D., Robinson, P., Cooper, S., Sparrow, J., Peckham, M., North, K. (2007). Intranuclear rod myopathy: molecular pathogenesis and mechanisms of weakness. Annals of Neurology, 62(6), 597-608. [More Information]
  • MacArthur, D., Seto, J., Raftery, J., Quinlan (nee Edwards), K., Huttley, G., Hook, J., Lemckert, F., Kee, A., Edwards, M., Berman, Y., Hardeman, E., Gunning, P., Yang, N., North, K., et al (2007). Loss of ACTN3 gene function alters mouse muscle metabolism and shows evidence of positive selection in humans. Nature Genetics, 39(10), 1261-1265. [More Information]
  • Domazetovska, A., Ilkovski, B., Cooper, S., Ghoddusi, M., Hardeman, E., Minamide, L., Gunning, P., Bamburg, J., North, K. (2007). Mechanisms underlying intranuclear rod formation. Brain, 130(12), 3275-3284. [More Information]
  • Baker, N., Morgelin, M., Pace, R., Peat, R., Adams, N., Gardner, R., Rowland, L., Miller, G., De Jonghe, P., Ceulemans, B., North, K., et al (2007). Molecular consequences of dominant Bethlem myopathy collagen VI mutations. Annals of Neurology, 62(4), 390-405. [More Information]
  • North, K. (2007). Nemaline myopathy with exclusively intranuclear rods and a novel mutation in ACTA1 (Q139H). Neuropediatrics: journal of pediatric neurobiology, neurology and neurosurgery, 38(6), 282-286. [More Information]
  • Young, H., Lowe, A., Fitzgerald, D., Seton, C., Waters, K., Kenny, E., Hynan, L., Iannaccone, S., North, K., Ryan, M. (2007). Outcome of noninvasive ventilation in children with neuromuscular disease. Neurology, 68(3), 198-201. [More Information]
  • Godfrey, C., Clement, E., Mein, R., Brockington, M., Smith, J., Talim, B., Straub, V., Robb, S., Quinlivan, R., Feng, L., North, K., et al (2007). Refining genotype phenotype correlations in muscular dystrophies with defective glycosylation of dystroglycan. Brain, 130(10), 2725-2735. [More Information]
  • Hyman, S., Gill, D., Shores, E., Steinberg, A., North, K. (2007). T2-Hyperintensities in children with neurofibromatosis type 1 and their relationship to cognitive functioning. Journal of Neurology, Neurosurgery and Psychiatry, 78(10), 1088-1091. [More Information]
  • Yang, N., Macarthur, D., Wolde, B., Onywera, V., Boit, M., Lau, S., Wilson, R., Scott, R., Pitsiladis, Y., North, K. (2007). The ACTN3 R577X Polymorphism in East and West African Athletes. Medicine and Science in Sports and Exercise, 39(11), 1985-1988. [More Information]
  • Clarke, N., Ilkovski, B., Cooper, S., Valova, V., Robinson, P., Nonaka, I., Feng, J., Marston, S., North, K. (2007). The pathogenesis of ACTA1-related congenital fiber type disproportion. Annals of Neurology, 61(6), 552-561. [More Information]
  • Barton, B., North, K. (2007). The self-concept of children and adolescents with neurofibromatosis type 1. Child: Care, Health and Development, 33(4), 401-408. [More Information]
  • Vlahovich, N., Schevzov, G., Nair-Shalliker, V., Ilkovski, B., Artap, S., Joya, J., Kee, A., North, K., Gunning, P., Hardeman, E. (2007). Tropomyosin 4 defines novel filaments in skeletal muscle associated with muscle remodelling/regeneration in normal and diseased muscle. Cell Motility and the Cytoskeleton, 65(online 29 Oct 2007), 73-85. [More Information]
  • Peat, R., Baker, N., Jones, K., North, K., Lamande, S. (2007). Variable penetrance of COL6A1 null mutations: Implications for prenatal diagnosis and genetic counselling in Ullrich congenital muscular dystrophy families. Neuromuscular Disorders, 17(7), 547-557. [More Information]
  • Clarke, N., Gonzalez, V., Kornberg, A., Shield, L., Manson, J., Smith, R., Beggs, A., Arbuckle, S., Dennett, X., Nonaka, I., North, K., et al (2006). A clinical and pathological study of congenital fibre type disproportion. Neuromuscular Disorders, 16(9-10), 646-646.
  • MacArthur, D., Yang, N., Seto, J., Raftery, J., Kee, A., Hardeman, E., Gunning, P., North, K. (2006). A gene for speed: the ACTN3 R577X polymorphism influences muscle performance. Neuromuscular Disorders, 16(Supplement 1), S59-S59.
  • Hernandez-Deviez, D., Martin, S., Laval, S., Lo, H., Cooper, S., North, K., Bushby, K., Parton, R. (2006). Aberrant dysferlin trafficking in cells lacking caveolin or expressing dystrophy mutants of caveolin-3. Human Molecular Genetics, 15(1), 129-142.
  • Gill, D., Hyman, S., Steinberg, A., North, K. (2006). Age-related findings on MRI in neurofibromatosis type 1. Pediatric Radiology: roentgenology, nuclear medicine, ultrasonics, CT, MRI, 36(10), 1048-1056. [More Information]
  • Hutchinson, D., Charlton, A., Laing, N., Ilkovski, B., North, K. (2006). Autosomal dominant nemaline myopathy with intranuclear rods due to mutation of the skeletal muscle ACTA1 gene: Clinical and pathological variability within a kindred. Neuromuscular Disorders, 16(2), 113-121.
  • Butler, T., Au, C., Yang, B., Egan, J., Tan, Y., Hardeman, E., North, K., Verkman, A., Winlaw, D. (2006). Cardiac aquaporin expression in humans, rats, and mice. American Journal of Physiology: Heart and Circulatory Physiology, 291(2), H705-H713. [More Information]
  • Ryan, M., Sy, C., Rudge, S., Ellaway, C., Ketteridge, D., Roddick, L., Iannaccone, S., Kornberg, A., Silberstein, J., North, K. (2006). Dietary L-tyrosine supplementation in nemaline myopathy. Neuromuscular Disorders, 16(S1), S88-S88.
  • Clarke, N., Ilkovski, B., Nonaka, I., Feng, J., Marston, S., North, K. (2006). Investigating the pathogenesis of ACTA1-related congenital fibre type disproportion. Neuromuscular Disorders, 16(Supplement 1), s61-s61.
  • Hyman, S., Shores, E., North, K. (2006). Learning disabilities in children with neurofibromatosis type 1: subtypes, cognitive profile, and attention-deficit-hyperactivity disorder. Developmental Medicine and Child Neurology, 48(12), 973-977. [More Information]
  • Egan, J., Butler, T., Au, C., Tan, Y., North, K., Winlaw, D. (2006). Myocardial water handling and the role of aquaporins. BBA - Bioenergetics, 1758 (8), 1043-1052. [More Information]
  • Harper, C., North, K., Shingde, M., Spring, P., Wills, E., Dye, D., Laing, N. (2006). Myosin storage (hyaline body) myopathy: A case report. Neuromuscular Disorders, 16(12), 882-886. [More Information]
  • Roberts, H., Day, B., Lo, H., McLean, C., North, K. (2006). Rippling muscle disease. Journal of Clinical Neuroscience, 13(5), 576-578.
  • Clarke, N., Kidson, W., Quijano-Roy, S., Estournet, B., Ferreiro, A., Guicheney, P., Manson, J., Kornberg, A., Shield, L., North, K. (2006). SEPN1: associated with congenital fiber-type disproportion and insulin resistance. Annals of Neurology, 59(3), 546-552. [More Information]
  • Domazetovska, A., Ilkovski, B., Cooper, S., Valova, V., Lemckert, F., Hook, J., Hardeman, E., Robinson, P., Yang, N., Gunning, P., North, K. (2006). Unravelling the thin filament: mechanisms of weakness in inherited muscle disease. Neuromuscular Disorders, 16(Sup. 1), S60-S61.
  • Clarke, N., Smith, R., Bahlo, M., North, K. (2005). A novel X-linked form of congenital fiber-type disproportion. Annals of Neurology, 58(5), 767-772. [More Information]
  • Corbett, M., Akkari, A., Domazetovska, A., Cooper, S., North, K., Laing, N., Gunning, P., Hardeman, E. (2005). An alphaTropomyosin mutation alters dimer preference in nemaline myopathy. Annals of Neurology, 57(1), 42-49. [More Information]
  • Ilkovski, B., Clement, S., Sewry, C., North, K., Cooper, S. (2005). Defining alpha-skeletal and alpha-cardiac actin expression in human heart and skeletal muscle explains the absence of cardiac involvement in ACTA1 nemaline myopathy. Neuromuscular Disorders, 15(12), 829-835. [More Information]
  • Baker, N., Morgelin, M., Peat, R., Goemans, N., North, K., Bateman, J., Lamande, S. (2005). Dominant collagen VI mutations are a common cause of Ullrich congenital muscular dystrophy. Human Molecular Genetics, 14(2), 279-293.
  • MacArthur, D., North, K. (2005). Genes and human elite athletic performance. Human Genetics, 116(5), 331-339. [More Information]
  • Senderek, J., Krieger, M., Stendel, C., Bergmann, C., Moser, M., Breitbach-Faller, N., Rudnik-Schöneborn, S., Blaschek, A., Wolf, N., et, A., North, K., Smith, J. (2005). Mutations in SIL1 cause Marinesco-Sjögren syndrome, a cerebellar ataxia with cataract and myopathy. Nature Genetics, 37(12), 1312-1314. [More Information]
  • Minkler, P., Kerner, J., North, K., Hoppel, C. (2005). Quantitation of long-chain acylcarnitines by HPLC/fluorescence detection: application to plasma and tissue specimens from patients with carnitine palmitoyltransferase-II deficiency. Clinica Chimica Acta, 352(01-Feb), 81-92. [More Information]
  • Hyman, S., Shores, A., North, K. (2005). The nature and frequency of cognitive deficits in children with neurofibromatosis type 1. Neurology, 65(7), 1037-1044. [More Information]
  • Compton, A., Cooper, S., Hill, P., Yang, N., Froehner, S., North, K. (2005). The syntrophin-dystrobrevin subcomplex in human neuromuscular disorders. Journal of Neuropathology and Experimental Neurology, 64(4), 350-361. [More Information]
  • MacArthur, D., North, K. (2004). A Gene For Speed? The Evolution And Function Of Alpha-Actinin-3. BioEssays, 26(7), 786-795. [More Information]
  • Laing, N., Clarke, N., Dye, D., Liyanage, K., Walker, K., Kobayashi, Y., Shimakawa, S., Hagiwara, T., Ouvrier, R., Sparrow, J., North, K., et al (2004). Actin Mutations Are One Cause Of Congenital Fibre Type Disproportion. Annals of Neurology, 56(5), 689-694.
  • Allen, D., Hardeman, E., North, K., Alexander, I., Cooper, S., Maxwell, A., Kizana, E., Ghoddusi, M. (2004). C2C12 Co-Culture On A Fibroblast Substratum Enables Sustained Survival Of Contractile, Highly Differentiated Myotubes With Peripheral Nuclei And Adult Fast Myosin Expression. Cell Motility and the Cytoskeleton, 58(3), 200-211. [More Information]
  • Favaloro, E., Zafer, M., Nair, S., Hertzberg, M., North, K. (2004). Evaluation Of Primary Haemostasis In People With Neurofibromatosis Type 1. Clinical and Laboratory Haematology, 26(5), 341-345.
  • North, K., Nowak, K., Cooper, S., Maxwell, A., Clement, S., Davies, K., Laing, N., Ilkovski, B., Domazetovska, A. (2004). Evidence For A Dominant-Negative Effect In Acta1 Nemaline Myopathy Caused By Abnormal Folding, Aggregation And Altered Polymerization Of Mutant Actin Isoforms. Human Molecular Genetics, 13(16), 1727-1743.
  • North, K., Winlaw, D., Cooper, S., Au, C., Yang, N., Lo, H., Compton, A., Wintour, M. (2004). Expression Of Aquaporin 1 In Human Cardiac And Skeletal Muscle. Journal of Molecular and Cellular Cardiology, 36(5), 655-662.
  • Wallgren-Pettersson, C., Pelin, K., Nowak, K., Muntoni, F., Romero, N., Goebel, H., Laing, N., North, K., Beggs, A. (2004). Genotype-Phenotype Correlations In Nemaline Myopathy Caused By Mutations In The Genes For Nebulin And Skeletal Muscle Alpha-Actin. Neuromuscular Disorders, 14(8-9), 461-470.
  • Jungbluth, H., Sewry, C., Counsell, S., Allsop, J., Chattopadhyay, A., Mercuri, E., North, K., Laing, N., Bydder, G., Pelin, K., et al (2004). Magnetic Resonance Imaging Of Muscle In Nemaline Myopathy. Neuromuscular Disorders, 14, 779-784.
  • North, K., Flaherty, M., Thiagalingam, S., Billson, F. (2004). Neurofibromatosis Type 1 And Optic Pathway Gliomas: Follow-Up Of 54 Patients. Ophthalmology, 111(3), 568-577.
  • Yates, K., Festa, M., Gillis, J., Waters, K., North, K. (2004). Outcome Of Children With Neuromuscular Disease Admitted To Paediatric Intensive Care. Archives of Disease in Childhood, 89, 170-175.
  • North, K., Barton, B. (2004). Social Skills Of Children With Neurofibromatosis Type 1. Developmental Medicine and Child Neurology, 46(8), 553-563.
  • Yang, N., MacArthur, D., Gulbin, J., Hahn, A., Beggs, A., Easteal, S., North, K. (2003). ACTN3 genotype is associated with human elite athletic performance. American Journal of Medical Genetics. Part A, 73, 627-632.
  • Clarke, N., North, K. (2003). Congenital fiber type disproportion - 30 years on. Journal of Neuropathology and Experimental Neurology, 62(10), 977-989.
  • Jones, K., Compton, A., Yang, N., Mills, M., Peters, M., Mowat, D., Kunkel, L., Froehner, S., North, K. (2003). Defiency of the syntrophins and alpha-dystrobrevin in patients with inherited myopathy. Neuromuscular Disorders, 13, 456-467.
  • Hyman, S., Gill, D., Shores, E., Steinberg, A., Joy, P., Gibikote, S., North, K. (2003). Natural history of cognitive deficits and their relationship to MRI T2-hyperintensities in NF1. Neurology, 60(7), 1139-1145.
  • Davis, M., Haan, E., Jungbluth, H., Sewry, C., North, K., Muntoni, C., Kuntzer, T., Lamont, P., Bankier, A., Tomlinson, P., et al (2003). Principal mutation hotspot for central core disease and related myopathies in the C-terminal transmembrane region of the RYR1 gene. Neuromuscular Disorders, 13(2), 151-157.
  • Cooper, S., Lo, S., North, K. (2003). Single section Western blot. Improving the molecular diagnosis of the muscular dystrophies. Neurology, 61(1), 93-97.
  • North, K., Barton, B., Hyman, S. (2002). Cognitive deficits in neurofibromatosis 1. Journal of Child Neurology, 17(8), 605-612.
  • North, K., Gutmann, D., Rasmussen, S., Wolkenstein, P., MacCollin, M., Guha, A., Inskip, P., Poyhonen, M., Birch,, P., Friedman, J. (2002). Gliomas presenting after age 10 in individuals with neurofibromatosis type 1 (NF1). Neurology, 59(5), 759-761.
  • Young, H., Hyman, S., North, K. (2002). Neurofibromatosis 1: clinical review and exceptions to the rules. Journal of Child Neurology, 17(8), 613-621.
  • Bonnemann, C., Wong, J., Jones, K., Lidov, H., Feener, C., Shapiro, F., Darras, B., Kunkel, L., North, K. (2002). Primary �-sarcoglycanopathy (LGMD 2C): broadening of the mutational spectrum guided by the immunohistochemical profile. Neuromuscular Disorders, 12(3), 273-280.
  • Corbett, M., Gunning, P., North, K., Hardeman, E., Robinson, C., Dunglison,, G., Yang, N., Joya, J., Stewart, A., Schnell, C. (2001). A mutation in alpha-tropomyosin slow affects muscle strength, maturation and hypertrophy in a mouse model for nemaline myopathy. Human Molecular Genetics, 10, 317-328.
  • Jones, K., North, K., He,, Y., Vignier, N., Morgan, G., Chevallay,, M., Barois, A., Estournet-Mathiaud,, B., Hori, H., Mizuta,, T., et al (2001). Congenital muscular dystrophy with primary partial laminin alpha-2 chain deficiency: Molecular study. Neurology, 57, 1319-1322.
  • Weinberger, R., North, K., Mills,, M., Yang, N., Vander, W., Beggs, A., Easteal, S. (2001). Differential expression of the actin-binding proteins, alpha-actinin-2 and -3, in different species: implications for the evolution of functional redundancy. Human Molecular Genetics, 10, 1335-1346.
  • Ilkovski, B., Ryan, M., Gunning, P., Hardeman, E., North, K., Cooper, S., Nowak, K., Yang, N., Schnell, C., Durling, H., et al (2001). Nemaline myopathy caused by mutations in the muscle alpha-skeletal-acting gene. American Journal of Human Genetics, 68, 1333-1343.
  • Ryan, M., North, K., Schnell, C., Strickland, C., Shield, L., Morgan, G., Iannaccone, S., Laing, N., Beggs, A. (2001). Nemaline Myopathy: A clinical study of 143 cases. Annals of Neurology, 50, 312-320.
  • Jones, K., Ouvrier, R., North, K., Morgan, G., Johnston, H., Tobias, V., Wilkinson,, I. (2001). The expanding phenotype of laminin alpha-2 chain (merosin) abnormalities: case series and review. Journal of Medical Genetics, 38, 649-657.
  • North, K., Ng,, Y. (2001). Visual-evoked potentials in the assessment of optic gliomas. Pediatric Neurology, 24, 44-48.

Conferences

  • Seto, J., MacArthur, D., Chan, S., Quinlan (nee Edwards), K., Cooney, G., Head, S., Yang, N., North, K. (2008). Metabolic and physiological changes in Actn3 deficient mice: defining the association between alpha -actinin-3 and human athletic performance. New Directions in Biology and Disease of Skeletal Muscle, The Westin at Canal Place: The Westin at Canal Place.
  • Peat, R., Baker, N., Jones, K., Lamande, S., North, K. (2006). Defining the aetiology of congenital muscular dystrophy in a large cohort. XIth International Congress on Neuromuscular Diseases, United Kingdom: Elsevier.
  • Godfrey, C., Mein, R., Brockington, M., Elson, E., Topaloglu, H., Smith, J., Escolar, D., Bertini, E., Merlini, G., Mercuri, E., North, K., et al (2006). Molecular genetic analysis of 6 glycosyltransferases in a large population of dystroglycanopathy patients significantly widens the spectrum of phenotypes resulting from POMT1, POMGnT1 and Fukutin mutations. 11th International Congress of the World Muscle Society, United Kingdom: Elsevier.
  • Senderek, J., Krieger, M., Stendel, C., North, K., Muntoni, F., Quijano-Roy, S., Ebinger, F., Schroder, J., Voit, T., Weis, J. (2006). Mutations in SIL1 cause Marinesco-Sjogren syndrome, a cerebellar ataxia with cataract and myopathy. 11th International Congress of the World Muscle Society, United Kingdom: Elsevier.
  • Tay, V., Chiotis, M., Reardon, K., Lo, H., North, K. (2006). The clinical and molecular characterisation of calpain deficiency in patients with neuromuscular disorders. 11th International Congress of the World Muscle Society, United Kingdom: Elsevier.
  • Barton, B., North, K. (2002). Self-concept of children with neurofibromatosis Type 1 (NF1). 2nd International Biennial conference, Online: Self Research Centre.

2014

  • Garton, F., Seto, J., Quinlan (nee Edwards), K., Yang, N., Houweling, P., North, K. (2014). alpha-Actinin-3 deficiency alters muscle adaptation in response to denervation and immobilisation. Human Molecular Genetics, 23(7), 1879-1893. [More Information]
  • North, K., Wang, C., Clarke, N., Jungbluth, H., Vainzof, M., Dowling, J., Amburgey, K., Quijano-Roy, S., Beggs, A., Sewry, C., et al (2014). Approach to the diagnosis of congenital myopathies. Neuromuscular Disorders, 24(2), 97-116. [More Information]
  • Thomas, K., Zheng, X., Garces Suarez, F., Raftery, J., Quinlan (nee Edwards), K., Yang, N., North, K., Houweling, P. (2014). Evidence based selection of commonly used RT-qPCR reference genes for the analysis of mouse skeletal muscle. PLoS One, 9(2), e88653- 1-e88653- 11. [More Information]
  • Payne, J., Pickering, T., Porter, M., Oates, E., Walia, N., Prelog, K., North, K. (2014). Longitudinal assessment of cognition and T2-hyperintensities in NF1: An 18-year study. American Journal of Medical Genetics. Part A, 164(3), 661-665. [More Information]
  • Sullivan, K., El-Hoss, J., Quinlan (nee Edwards), K., Deo, N., Garton, F., Seto, J., Gdalevitch, M., Turner, N., Cooney, G., Kolanczyk, M., North, K., Little, D., Schindeler, A. (2014). NF1 is a critical regulator of muscle development and metabolism. Human Molecular Genetics, 23(5), 1250-1259. [More Information]
  • Champion, J., Rose, K., Payne, J., Burns, J., North, K. (2014). Relationship between cognitive dysfunction, gait, and motor impairment in children and adolescents with neurofibromatosis type 1. Developmental Medicine and Child Neurology, 56(5), 468-474. [More Information]
  • Thomas, K., Hamilton (Ellis), N., North, K., Houweling, P. (2014). Sequence analysis of the Equine ACTN3 Gene in Australian horse breeds. Gene, 538(1), 88-93. [More Information]
  • Pride, N., Korgaonkar, M., Barton, B., Payne, J., Vucic, S., North, K. (2014). The genetic and neuroanatomical basis of social dysfunction: Lessons from neurofibromatosis type 1. Human Brain Mapping, 35(5), 2372-2382. [More Information]

2013

  • Clarke, N., Amburgey, K., Teener, J., Camelo-Piragua, S., Kesari, A., Punetha, J., Waddell, L., Davis, M., Laing, N., Monnier, N., North, K., et al (2013). A novel mutation expands the genetic and clinical spectrum of MYH7-related myopathies. Neuromuscular Disorders, 23(5), 432-436. [More Information]
  • Friedlander, S., Herrmann, A., Lowry, D., Mepham, E., Lek, M., North, K., Organ, C. (2013). ACTN3 Allele Frequency in Humans Covaries with Global Latitudinal Gradient. PLoS One, 8(1), 1-4. [More Information]
  • Seto, J., Quinlan (nee Edwards), K., Lek, M., Zheng, X., Garton, F., MacArthur, D., Hogarth, M., Houweling, P., Gregorevic, P., Turner, N., Yang, N., North, K., et al (2013). ACTN3 genotype infuences muscle performance through the regulation of calcineurin signaling. Journal of Clinical Investigation, 123(10), 4255-4263. [More Information]
  • Wang, G., Mikami, E., Chiu, L., de Perini, A., Deason, M., Fuku, N., Miyachi, M., Kaneoka, K., Murakami, H., Tanaka, M., North, K., et al (2013). Association analysis of ACE and ACTN3 in Elite Caucasian and East Asian Swimmers. Medicine and Science in Sports and Exercise, 45(5), 892-900. [More Information]
  • Lek, A., Evesson, F., Lemckert, F., Redpath, G., Lueders, A., Turnbull, L., Whitchurch, C., North, K., Cooper, S. (2013). Calpains, Cleaved Mini-DysferlinC72, and L-Type Channels Underpin Calcium-Dependent Muscle Membrane Repair. The Journal of Neuroscience, 33(12), 5085-5094. [More Information]
  • Payne, J., Pride, N., North, K. (2013). Cognition and Behaviour in Neurofibromatosis Type 1: Pathogenesis and Emerging Therapies. In Matthias A Karajannis, Jeffrey Allen (Eds.), Neurofibromatosis Type 1: Symptoms, Treatment and Prognosis, (pp. 117-146). Hauppauge NY, USA: Nova Science Publishers.
  • Lorenzo, J., Barton, B., Arnold, S., North, K. (2013). Cognitive Features that Distinguish Preschool-Age Children with Neurofibromatosis Type 1 from Their Peers: A Matched Case-Control Study. The Journal of Pediatrics, 163(5), 1479-1483. [More Information]
  • Eynon, N., Hanson, E., Lucia, A., Houweling, P., Garton, F., North, K., Bishop, D. (2013). Genes for elite power and sprint performance: ACTN3 leads the way. Sports Medicine, 43(9), 803-817. [More Information]
  • Mokbel, N., Ilkovski, B., Kreissl, M., Memo, M., Jeffries, C., Marttila, M., Lehtokari, V., Lemola, E., Gronholm, M., Yang, N., Trewhella, J., North, K., Clarke, N., et al (2013). K7del is a common TPM2 gene mutation associated with nemaline myopathy and raised myofibre calcium sensitivity. Brain, 136(2), 494-507. [More Information]
  • Carss, K., Stevens, E., Foley, A., Cirak, S., Riemersma, M., Torelli, S., Hoischen, A., Willer, T., Van Scherpenzeel, M., Moore, S., Young, H., North, K., et al (2013). Mutations in GDP-Mannose Pyrophosphorylase B Cause Congenital and Limb-Girdle Muscular Dystrophies Associated with Hypoglycosylation of α-Dystroglycan. American Journal of Human Genetics, 93(1), 29-41. [More Information]
  • Foley, A., Quijano-Roy, S., Collins, J., Straub, V., McCallum, M., Deconinck, N., Mercuri, E., Pane, M., D'Amico, A., Bertini, E., North, K., et al (2013). Natural history of pulmonary function in collagen VI-related myopathies. Brain, 136, 3625-3633. [More Information]
  • Payne, J., Barton, B., Shores, E., North, K. (2013). Paired associate learning in children with neurofibromatosis type 1: implications for clinical trials. Journal of Neurology, 260(1), 214-220. [More Information]
  • Pride, N., Crawford, H., Payne, J., North, K. (2013). Social functioning in adults with neurofibromatosis type 1. Research in Developmental Disabilities, 34(10), 3393-3399. [More Information]
  • Oates, E., Payne, J., Foster, S., Clarke, N., North, K. (2013). Young Australian Adults With NF1 Have Poor Access to Health Care, High Complication Rates, and Limited Disease Knowledge. American Journal of Medical Genetics. Part A, 161(4), 659-666. [More Information]

2012

  • Fitzsimons, D., Jones, D., Barton, B., North, K. (2012). A procedure for the computerised analysis of cleft palate speech transcription. Clinical Linguistics and Phonetics, 26(1), 18-38. [More Information]
  • Oates, E., Reddel, S., Rodriguez, M., Gandolfo, L., Bahlo, M., Hawke, S., Lamande, S., Clarke, N., North, K. (2012). Autosomal dominant congenital spinal muscular atrophy: a true form of spinal muscular atrophy caused by early loss of anterior horn cells. Brain: a journal of neurology, 135(6), 1714-1723. [More Information]
  • Huson, S., Acosta, M., Belzberg, A., Bernards, A., Chernoff, J., Cichowski, K., Evans, D., Ferner, R., Giovannini, M., Korf, B., North, K., et al (2012). Back to the future: Proceedings from the 2010 NF Conference. American Journal of Medical Genetics. Part A, 155(2), 307-321. [More Information]
  • Biancalana, V., Beggs, A., Das, S., Jungbluth, H., Kress, W., Nishino, I., North, K., Romero, N., Laporte, J. (2012). Clinical utility gene card for: Centronuclear and myotubular myopathies. European Journal of Human Genetics, 20(10), 1-5. [More Information]
  • Wang, C., Dowling, J., North, K., Schroth, M., Sejersen, T., Shapiro, F., Bellini, J., Weiss, H., Guillet, M., Amburgey, K., Clarke, N., Fitzgerald, D., Munns, C., Rose, K., et al (2012). Consensus statement on standard of care for congenital myopathies. Journal of Child Neurology, 27(3), 363-382. [More Information]
  • Waddell, L., Evesson, F., North, K., Cooper, S., Clarke, N. (2012). Diagnosis of the Muscular Dystrophies. In Madhuri Hegde & Arunkanth Ankala (Eds.), Muscular Dystrophy, (pp. 261-288). Rijeka, Croatia: InTech Publishers.
  • Payne, J., Arnold, S., Pride, N., North, K. (2012). Does attention-deficit-hyperactivity disorder exacerbate executive dysfunction in children with neurofibromatosis type 1? Developmental Medicine and Child Neurology, 54(10), 898-904. [More Information]
  • Lek, A., Evesson, F., Sutton, B., North, K., Cooper, S. (2012). Ferlins: Regulators of Vesicle Fusion for Auditory Neurotransmission, Receptor Trafficking and Membrane Repair. Traffic (Malden), 13(2), 185-194. [More Information]
  • Menezes, M., Waddell, L., Evesson, F., Cooper, S., Webster, R., Jones, K., Mowat, D., Kiernan, M., Johnston, H., Corbett, A., North, K., Clarke, N., et al (2012). Importance and challenge of making an early diagnosis in LMNA-related muscular dystrophy. Neurology, 78(16), 1258-1263. [More Information]
  • Menezes, M., North, K. (2012). Inherited neuromuscular disorders: Pathway to diagnosis. Journal of Paediatrics and Child Health, 48(6), 458-465. [More Information]
  • Rose, K., Burns, J., North, K. (2012). Interventions for increasing ankle flexibility in patients with neuromuscular disease: A Cochrane Systematic Review. Neuromuscular Disorders, 22(9), 885-885.
  • Clarke, N., Waddell, L., Sie, L., van Bon, B., McLean, C., Clark, D., Kornberg, A., Lammens, M., North, K. (2012). Mutations in TPM2 and congenital fibre type disproportion. Neuromuscular Disorders, 22(11), 955-958. [More Information]
  • Kalamarides, M., Acosta, M., Babovic-Vuksanovic, D., Carpen, O., Cichowski, K., Evans, D., Giancotti, F., Hanemann, C., Ingram, D., Lloyd, A., North, K., et al (2012). Neurofibromatosis 2011: a report of the Childrens Tumor Foundation annual meeting. Acta Neuropathologica, 123(3), 369-380. [More Information]
  • Johnson, K., Fisher, M., Listernick, R., North, K., Schorry, E., Viskochil, D., Weinstein, M., Rubin, J., Gutmann, D. (2012). Parent-of-origin in individuals with familial neurofibromatosis type 1 and optic pathway gliomas. Familial Cancer, 11(4), 653-656. [More Information]
  • Anderson, V., McKenzie, J., Seton, C., Fitzgerald, D., Webster, R., North, K., Joffe, D., Young, H. (2012). Sniff nasal inspiratory pressure and sleep disordered breathing in childhood neuromuscular disorders. Neuromuscular Disorders, 22(6), 528-533. [More Information]
  • Pride, N., Payne, J., North, K. (2012). The Impact of ADHD on the Cognitive and Academic Functioning of Children With NF1. Developmental Neuropsychology, 37(7), 590-600. [More Information]
  • Acosta, M., Bearden, C., Castellanos, X., Cutting, L., Elgersma, Y., Gioia, G., Gutmann, D., Lee, Y., Legius, E., Muenke, M., North, K., et al (2012). The Learning Disabilities Network (LeaDNet): using neurofibromatosis type 1 (NF1) as a paradigm for translational research. American Journal of Medical Genetics. Part A, 158A (9), 2225-2232. [More Information]
  • Ardern-Holmes, S., North, K. (2012). Treatment for plexiform neurofibromas in patients with NF1. The Lancet Oncology, 13(12), 1175-1176. [More Information]

2011

  • Waddell, L., Tran, J., Zheng, X., Bonnemann, C., Hu, Y., Evesson, F., Lek, M., Arbuckle, S., Wang, M., Smith, R., North, K., Clarke, N. (2011). A study of FHL1, BAG3, MATR3, PTRF and TCAP in Australian muscular dystrophy patients. Neuromuscular Disorders, 21(11), 776-781. [More Information]
  • Wang, D., Nykanen, M., Yang, N., Winlaw, D., North, K., Verkman, A., Owler, B. (2011). Altered cellular localization of aquaporin-1 in experimental hydrocephalus in mice and reduced ventriculomegaly in aquaporin-1 deficiency. Molecular and Cellular Neuroscience, 46(4), 318-324. [More Information]
  • Payne, J., Hyman, S., Shores, E., North, K. (2011). Assessment of executive function and attention in children with neurofibromatosis type 1: Relationships between cognitive measures and real-world behavior. Neuropsychology, Development, and Cognition. Section C: Child Neuropsychology, 17(4), 313-329. [More Information]
  • North, K. (2011). Clinical approach to the diagnosis of congenital myopathies. Seminars in Pediatric Neurology, 18(4), 216-220. [More Information]
  • Seto, J., Lek, M., Quinlan (nee Edwards), K., Houweling, P., Zheng, X., Garton, F., Macarthur, D., Raftery, J., Garvey, S., Hauser, M., North, K., et al (2011). Deficiency of a-actinin-3 is associated with increased susceptibility to contraction-induced damage and skeletal muscle remodeling. Human Molecular Genetics, 20(15), 2914-2927. [More Information]
  • Waddell, L., Lemckert, F., Zheng, X., Tran, J., Evesson, F., Hawkes, J., Lek, A., Street, N., Lin, P., Clarke, N., North, K., Cooper, S., et al (2011). Dysferlin, Annexin A1, and Mitsugumin 53 Are Upregulated in Muscular Dystrophy and Localize to Longitudinal Tubules of the T-System With Stretch. Journal of Neuropathology and Experimental Neurology, 70(4), 302-313. [More Information]
  • Yiu, E., Klausegger, A., Waddell, L., Grasern, N., Lloyd, L., Tran, K., North, K., Bauer, J., McKelvie, P., Chow, C., et al (2011). Epidermolysis bullosa with late-onset muscular dystrophy and plectin deficiency. Muscle and Nerve, 44(1), 135-141. [More Information]
  • Ravenscroft, G., Sollis, E., Charles, A., North, K., Baynam, G., Laing, N. (2011). Fetal akinesia: review of the genetics of the neuromuscular causes. Journal of Medical Genetics, 48(12), 793-801. [More Information]
  • Bray, P., Bundy, A., Ryan, M., North, K., Burns, J. (2011). Health status of boys with Duchenne muscular dystrophy: A parent's perspective. Journal of Paediatrics and Child Health, 47, 557-562. [More Information]
  • Nguyen, M., Joya, J., Kee, A., Domazetovska, A., Yang, N., Hook, J., Lemckert, F., Kettle, E., Valova, V., Robinson, P., North, K., et al (2011). Hypertrophy and dietary tyrosine ameliorate the phenotypes of a mouse model of severe nemaline myopathy. Brain: a journal of neurology, 134(Pt12), 3516-3529. [More Information]
  • Au, C., Butler, T., Sherwood, M., Egan, J., North, K., Winlaw, D. (2011). Increased connective tissue growth factor associated with cardiac fibrosis in the mdx mouse model of dystrophic cardiomyopathy. International Journal of Experimental Pathology: mechanisms and models of disease, 92(1), 57-65. [More Information]
  • Pistilli, E., Bogdanovich, S., Garton, F., Yang, N., Gulbin, J., Conner, J., Anderson, B., Quinn, L., North, K., Ahima, R., et al (2011). Loss of IL-15 receptor α alters the endurance, fatigability, and metabolic characteristics of mouse fast skeletal muscles. Journal of Clinical Investigation, 121(8), 3120-3132. [More Information]
  • Lorenzo, J., Barton, B., Acosta, M., North, K. (2011). Mental, Motor, and Language Development of Toddlers with Neurofibromatosis Type 1. The Journal of Pediatrics, 158(4), 660-665. [More Information]
  • Koutsopoulos, O., Koch, C., Tosch, V., Bohm, J., North, K., Laporte, J. (2011). Mild Functional Differences of Dynamin 2 Mutations Associated to Centronuclear Myopathy and Charcot-Marie-Tooth Peripheral Neuropathy. PLoS One, 6(11), Article number e27498-1-Article number e27498-13. [More Information]
  • Lo, H., Bertini, E., Mirabella, M., Domazetovska, A., Dale, R., Petrini, S., D'Amico, A., Valente, E., Barresi, R., Roberts, M., Cooper, S., North, K., et al (2011). Mosaic Caveolin-3 Expression in Acquired Rippling Muscle Disease Without Evidence of Myasthenia Gravis or Acetylcholine Receptor Autoantibodies. Neuromuscular Disorders, 21(3), 194-203. [More Information]
  • North, K., Shield, L. (2011). Muscle Disorders. In Jean Aicardi (Eds.), Diseases of the Nervous System in Childhood (3rd ed). Wiley.
  • Chan, S., Seto, J., Houweling, P., Yang, N., North, K., Head, S. (2011). Properties of extensor digitorum longus muscle and skinned fibers from adult and aged male and female ACTN3 knockout mice. Muscle and Nerve, 43(1), 37-48. [More Information]
  • Sangster, J., Shores, E., Watt, S., North, K. (2011). The Cognitive Profile of Preschool-Aged Children with Neurofibromatosis Type 1. Neuropsychology, Development, and Cognition. Section C: Child Neuropsychology, 17(1), 1-16. [More Information]
  • Seto, J., Chan, S., Turner, N., MacArthur, D., Raftery, J., Berman, Y., Quinlan (nee Edwards), K., Cooney, G., Head, S., Yang, N., North, K. (2011). The effect of α-actinin-3 deficiency on muscle aging. Experimental Gerontology, 46(4), 292-302. [More Information]
  • Ardern-Holmes, S., North, K. (2011). Therapeutics for Childhood Neurofibromatosis Type 1 and Type 2. Current Treatment Options in Neurology, 13(6), 529-543. [More Information]
  • Waddell, L., Monnier, N., Cooper, S., North, K., Clarke, N. (2011). Using complementary DNA from MyoD-transduced fibroblasts to sequence large muscle genes. Muscle and Nerve, 44(2), 280-282. [More Information]
  • Yang, N., Schindeler, A., McDonald, M., Seto, J., Houweling, P., Lek, M., Hogarth, M., Morse, A., Raftery, J., Balasuriya, D., Berman, Y., Quinlan (nee Edwards), K., Little, D., North, K., et al (2011). α-Actinin-3 deficiency is associated with reduced bone mass in human and mouse. Bone, 49(4), 790-798. [More Information]

2010

  • Berman, Y., North, K. (2010). A Gene for Speed: The Emerging Role of {alpha}-Actinin-3 in Muscle Metabolism. Physiology, 25(4), 250-259. [More Information]
  • Scott, R., IRVING, R., Irwin, L., Morrison, E., Charlton, V., Austin, K., Tladi, D., Deason, M., Headley, S., Kolkhorst, F., North, K., et al (2010). ACTN3 and ACE genotypes in elite Jamaican and US sprinters. Medicine and Science in Sports and Exercise, 42(1), 107-112. [More Information]
  • Quinlan (nee Edwards), K., Seto, J., Turner, N., Vandebrouck, A., Floetenmeyer, M., Macarthur, D., Raftery, J., Lek, M., Yang, N., Parton, R., North, K., et al (2010). Alpha-actinin-3 deficiency results in reduced glycogen phosphorylase activity and altered calcium handling in skeletal muscle. Human Molecular Genetics, 19(7), 1335-1346. [More Information]
  • Lek, M., North, K. (2010). Are biological sensors modulated by their structural scaffolds? The role of the structural muscle proteins alpha-actinin-2 and alpha-actinin-3 as modulators of biological sensors. FEBS Letters, 584(14), 2974-2980. [More Information]
  • Payne, J., Moharir, M., Webster, R., North, K. (2010). Brain structure and function in neurofibromatosis type 1: current concepts and future directions. Journal of Neurology, Neurosurgery and Psychiatry, 81(3), 304-309. [More Information]
  • Tooley, L., Zamurs, L., Beecher, N., Baker, N., Peat, R., Adams, N., Bateman, J., North, K., Baldock, C., Lamande, S. (2010). Collagen VI microfibril formation is abolished by an {alpha}2(VI) von Willebrand factor A-domain mutation in a patient with Ullrich congenital muscular dystrophy. Journal of Biological Chemistry, 285(43), 33567-33576. [More Information]
  • Pride, N., Payne, J., Webster, R., Shores, E., Rae, C., North, K. (2010). Corpus Callosum Morphology and Its Relationship to Cognitive Function in Neurofibromatosis Type 1. Journal of Child Neurology, 25(7), 834-841. [More Information]
  • Sambuughin, N., Yau, K., Olive, M., Duff, R., Bayarsaikhan, M., Lu, S., Gonzales-Mera, L., Sivadorai, P., Nowak, K., Ravenscroft, G., North, K., et al (2010). Dominant mutations in KBTBD13, a member of the BTB/Kelch family, cause nemaline myopathy with cores. American Journal of Human Genetics, 87(6), 842-847. [More Information]
  • Waddell, L., Kreissl, M., Kornberg, A., Kennedy, P., McLean, C., Labarre-Vila, A., Monnier, N., North, K., Clarke, N. (2010). Evidence for a dominant negative disease mechanism in cap myopathy due to TPM3. Neuromuscular Disorders, 20(7), 464-466. [More Information]
  • Susman, R., Quijano-Roy, S., Yang, N., Webster, R., Clarke, N., Dowling, J., Kennerson, M., Nicholson, G., Biancalana, V., Ilkovski, B., Vucic, S., North, K., et al (2010). Expanding the clinical, pathological and MRI phenotype of DNM2-related centronuclear myopathy. Neuromuscular Disorders, 20(4), 229-237. [More Information]
  • Bray, P., Bundy, A., Ryan, M., North, K. (2010). Feasibility of a computerized method to measure quality of "everyday" life in children with neuromuscular disorders. Physical and Occupational Therapy in Pediatrics, 30(1), 43-53. [More Information]
  • Bray, P., Bundy, A., Ryan, M., North, K., Everett, A. (2010). Health-related Quality of Life in Boys With Duchenne Muscular Dystrophy: Agreement Between Parents and Their Sons. Journal of Child Neurology, 25(10), 1188-1194. [More Information]
  • Vandebrouck, A., Domazetovska, A., Mokbel, N., Cooper, S., Ilkovski, B., North, K. (2010). In Vitro Analysis of Rod Composition and Actin Dynamics in Inherited Myopathies. Journal of Neuropathology and Experimental Neurology, 69(5), 429-441. [More Information]
  • Rose, K., Burns, J., Wheeler, D., North, K. (2010). Interventions for increasing ankle range of motion in patients with neuromuscular disease (Review). Cochrane Database of Systematic Reviews, 17(2), 1-53. [More Information]
  • Lek, A., Lek, M., North, K., Cooper, S. (2010). Phylogenetic analysis of ferlin genes reveals ancient eukaryotic origins. BMC Evolutionary Biology, 10(1), 231-1-231-15. [More Information]
  • Lek, M., MacArthur, D., Yang, N., North, K. (2010). Phylogenetic analysis of gene structure and alternative splicing in {alpha}-actinins. Molecular Biology and Evolution, 27(4), 773-780. [More Information]
  • Chan, S., Seto, J., Houweling, P., Yang, N., North, K., Head, S. (2010). Properties of extensor digitorum longus muscle and skinned fibers from adult and aged male and female Actn3 knockout mice. Muscle and Nerve, 43(1), 1-12. [More Information]
  • Clarke, N., Waddell, L., Cooper, S., Perry, M., Smith, R., Kornberg, A., Muntoni, F., Lillis, S., Straub, V., Bushby, K., North, K., et al (2010). Recessive Mutations in RYR1 Are a Common Cause of Congenital Fiber Type Disproportion. Human Mutation, 31(7), E1544-E1550. [More Information]
  • Evesson, F., Peat, R., Lek, A., Brilot-Turville, F., Lo, H., Dale, R., Parton, R., North, K., Cooper, S. (2010). Reduced Plasma Membrane Expression of Dysferlin Mutants Is Attributed to Accelerated Endocytosis via a Syntaxin-4-associated Pathway. Journal of Biological Chemistry, 285(37), 28529-28539. [More Information]
  • Rose, K., Raymond, J., Refshauge, K., North, K., Burns, J. (2010). Serial night casting increases ankle dorsiflexion range in children and young adults with Charcot-Marie-Tooth disease: a randomised trial. Journal of Physiotherapy, 56(2), 113-119. [More Information]
  • Lek, M., Quinlan (nee Edwards), K., North, K. (2010). The evolution of skeletal muscle performance: gene duplication and divergence of human sarcomeric alpha-actinins. BioEssays, 32(1), 17-25. [More Information]
  • Moharir, M., London, K., Howman-Giles, R., North, K. (2010). Utility of positron emission tomography for tumour surveillance in children with neurofibromatosis type 1. European Journal of Nuclear Medicine and Molecular Imaging, 37(7), 1309-1317. [More Information]
  • Garton, F., Seto, J., North, K., Yang, N. (2010). Validation of an automated computational method for skeletal muscle fibre morphometry analysis. Neuromuscular Disorders, 20(8), 540-547. [More Information]
  • Ferner, R., Huson, S., Kalamarides, M., Mautner, V., McCormick, F., Morrison, H., Packer, R., Ramesh, V., Hunter-Schaedle, K., North, K., et al (2010). What's new in neurofibromatosis? Proceedings from the 2009 NF Conference: new frontiers. American Journal of Medical Genetics. Part A, 152(2), 269-283. [More Information]

2009

  • North, K. (2009). Adolescent medicine: towards evidence based practice in a young specialty. In David Bennett, Susan Towns, Elizabeth Elliott, Joav Merrick (Eds.), Challenges in Adolescent Health: An Australian Perspective, (pp. ix-xi). United States: Nova Science Publishers.
  • Yang, N., Garton, F., North, K. (2009). alpha-actinin-3 and performance. Medicine and Sport Science, 54, 88-101. [More Information]
  • Clarke, N., Domazetovska, A., Waddell, L., Kornberg, A., McLean, C., North, K. (2009). Cap disease due to mutation of the beta-tropomyosin gene (TPM2). Neuromuscular Disorders, 19(5), 348-351. [More Information]
  • Egan, J., Butler, T., Graf, F., Au, C., McMahon, A., North, K., Winlaw, D. (2009). Dysfunction induced by ischemia versus edema: does edema matter? The Journal of Thoracic and Cardiovascular Surgery, 138(1), 141-147. [More Information]
  • Bastiani, M., Liu, L., Hill, M., Jedrychowski, M., Nixon, S., Lo, H., Abankwa, D., Luetterforst, R., Fernandez-Rojo, M., Breen, M., North, K., et al (2009). MURC/Cavin-4 and cavin family members form tissue-specific caveolar complexes. The Journal of Cell Biology, 185(7), 1259-1273. [More Information]
  • North, K. (2009). Muscle Disorders. In Jean Aicardi (Eds.), Diseases of the Nervous System in Children. United States of America: Wiley-Blackwell Publishing.
  • Liu, R., Ginn, S., Lek, M., North, K., Alexander, I., Little, D., Schindeler, A. (2009). Myoblast sensitivity and fibroblast insensitivity to osteogenic conversion by BMP-2 correlates with the expression of Bmpr-1 a. BMC Musculoskeletal Disorders, 10, 51-1-51-12. [More Information]
  • Egan, J., Butler, T., Cole, A., Abraham, S., Murala, J., Baines, D., Street, N., Thompson, L., Biecker, O., Dittmer, J., Cooper, S., Au, C., North, K., Winlaw, D. (2009). Myocardial membrane injury in pediatric cardiac surgery: An animal model. The Journal of Thoracic and Cardiovascular Surgery, 137(5), 1154-1162. [More Information]
  • Rose, K., Raymond, J., Refshauge, K., North, K., Burns, J. (2009). Randomised trial of night casting for ankle contracture in children with Charcot-Marie-Tooth Disease. Journal of the Peripheral Nervous System, 14(Supplement), 128-128.
  • Rose, K., Burns, J., North, K. (2009). Relationship between foot strength and motor function in preschool-age children. Neuromuscular Disorders, 19(2), 104-107. [More Information]
  • Houweling, P., North, K. (2009). Sarcomeric α-actinins and their role in human muscle disease. Future Neurology, 4(6), 731-743. [More Information]

2008

  • Chan, S., Seto, J., MacArthur, D., Yang, N., North, K., Head, S. (2008). A gene for speed: contractile properties of isolated whole EDL muscle from an {alpha}-actinin-3 knockout mouse. American Journal of Physiology: Cell Physiology, 295(4), C897-C904. [More Information]
  • MacArthur, D., Seto, J., Chan, S., Quinlan (nee Edwards), K., Raftery, J., Turner, N., Nicholson, M., Kee, A., Hardeman, E., Gunning, P., North, K., et al (2008). An Actn3 knockout mouse provides mechanistic insights into the association between alpha-actinin-3 deficiency and human athletic performance. Human Molecular Genetics, 17(8), 1076-1086. [More Information]
  • Clement, E., Mercuri, E., Godfrey, C., Smith, J., Robb, S., Kinali, M., Straub, V., Bushby, K., Manzur, A., Talim, B., North, K., et al (2008). Brain involvement in muscular dystrophies with defective dystroglycan glycosylation. Annals of Neurology, 64(5), 573-582. [More Information]
  • Cairns, A., North, K. (2008). Cerebrovascular dysplasia in neurofibromatosis type 1. Journal of Neurology, Neurosurgery and Psychiatry, 79, 1165-1170. [More Information]
  • Au, C., Butler, T., Egan, J., Cooper, S., Lo, H., Compton, A., North, K., Winlaw, D. (2008). Changes in skeletal muscle expression of AQP1 and AQP4 in dystrophinopathy and dysferlinopathy patients. Acta Neuropathologica, 116(3), 235-246. [More Information]
  • Young, H., Barton, B., Waisbren, S., Dale, L., Ryan, M., Webster, R., North, K. (2008). Cognitive and psychological profile of males with Becker muscular dystrophy. Journal of Child Neurology, 23(2), 155-162. [More Information]
  • Pace, R., Peat, R., Baker, N., Zamurs, L., Morgelin, M., Irving, M., Adams, N., Bateman, J., Mowat, D., Smith, N., North, K., et al (2008). Collagen VI glycine mutations: perturbed assembly and a spectrum of clinical severity. Annals of Neurology, 64(3), 294-303. [More Information]
  • Ryan, M., Sy, C., Rudge, S., Ellaway, C., Ketteridge, D., Roddick, L., Iannaccone, S., Kornberg, A., North, K. (2008). Dietary L-Tyrosine Supplementation in Nemaline Myopathy. Journal of Child Neurology, 23(6), 609-613. [More Information]
  • Ilkovski, B., Mokbel, N., Lewis, R., Walker, K., Nowak, K., Domazetovska, A., Laing, N., Fowler, V., North, K., Cooper, S. (2008). Disease Severity and Thin Filament Regulation in M9R TPM3 Nemaline Myopathy. Journal of Neuropathology and Experimental Neurology, 67(9), 867-877. [More Information]
  • Peat, R., Gecz, J., Fallon, J., Tarpey, P., Smith, R., Futreal, A., Stratton, M., Lamande, S., Yang, N., North, K. (2008). Exclusion of biglycan mutations in a cohort of patients with neuromuscular disorders. Neuromuscular Disorders, 18(8), 606-609. [More Information]
  • Burns, J., Bray, P., Cross, L., North, K., Ouvrier, R., Ryan, M. (2008). Hand involvement in children with Charcot-Marie-Tooth disease type 1A. Neuromuscular Disorders, 18(12), 970-973. [More Information]
  • Rose, K., Burns, J., Wheeler, D., North, K. (2008). Interventions for increasing ankle range of motion in patients with neuromuscular disease (Protocol). Cochrane Database of Systematic Reviews, cd 006973(1), 1-14. [More Information]
  • Lo, H., Cooper, S., Evesson, F., Seto, J., Chiotis, M., Tay, V., Compton, A., Cairns, A., Corbett, A., MacArthur, D., North, K., et al (2008). Limb-girdle muscular dystrophy: Diagnostic evaluation, frequency and clues to pathogenesis. Neuromuscular Disorders, 18(1), 34-44. [More Information]
  • Seto, J., MacArthur, D., Chan, S., Quinlan (nee Edwards), K., Cooney, G., Head, S., Yang, N., North, K. (2008). Metabolic and physiological changes in Actn3 deficient mice: defining the association between alpha -actinin-3 and human athletic performance. New Directions in Biology and Disease of Skeletal Muscle, The Westin at Canal Place: The Westin at Canal Place.
  • Martin, P., Shelton, G., Dickinson, P., Sturges, B., Xu, R., LeCouteur, R., Guo, L., Grahn, R., Lo, H., North, K., Malik, R., et al (2008). Muscular dystrophy associated with alpha-dystroglycan deficiency in Sphynx and Devon Rex cats. Neuromuscular Disorders, 18(12), 942-52. [More Information]
  • Compton, A., Albrecht, D., Seto, J., Cooper, S., Ilkovski, B., Jones, K., Challis, D., Mowat, D., Ranscht, B., Bahlo, M., North, K., et al (2008). Mutations in Contactin-1, a Neural Adhesion and Neuromuscular Junction Protein, Cause a Familial Form of Lethal Congenital Myopathy. American Journal of Human Genetics, 83(6), 714-724. [More Information]
  • Clarke, N., Kolski, H., Dye, D., Lim, E., Smith, R., Patel, R., Fahey, M., Bellance, R., Romero, N., Johnson, E., North, K., et al (2008). Mutations in TPM3 are a common cause of congenital fiber type disproportion. Annals of Neurology, 63(3), 329-337. [More Information]
  • Egan, J., Butler, T., Cole, A., Aharonyan, A., Baines, D., Street, N., Navaratnam, M., Biecker, O., Zazulak, C., Au, C., North, K., Winlaw, D., et al (2008). Myocardial ischemia is more important than the effects of cardiopulmonary bypass on myocardial water handling and postoperative dysfunction: A pediatric animal model. The Journal of Thoracic and Cardiovascular Surgery, 136(5), 1265-1273. [More Information]
  • Rose, K., Burns, J., Ryan, M., Ouvrier, R., North, K. (2008). Reliability of quantifying foot and ankle muscle strength in very young children. Muscle and Nerve, 37(5), 626-631. [More Information]
  • North, K., Laing, N. (2008). Skeletal muscle alpha-actin diseases. In Nigel G. Laing (Eds.), The Sarcomere and Skeletal Muscle Disease, (pp. 15-27). New York: Springer Science + Business Media.
  • Peat, R., Smith, J., Compton, A., Baker, N., Pace, R., Burkin, D., Kaufman, S., Lamande, S., North, K. (2008). The diagnosis and etiology of congenital muscular dystrophy. Neurology, 71(5), 312-321. [More Information]
  • Amsili, S., Zer, H., Hinderlich, S., Krause, S., MacArthur, D., Becker-Cohen, M., North, K., Mitrani-Rosenbaum, S. (2008). UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase (GNE) binds to alpha-actinin 1: novel pathways in skeletal muscle? PLoS One, 3(6), e2477 - 1-e2477 - 9. [More Information]
  • North, K. (2008). What's new in congenital myopathies? Neuromuscular Disorders, 18(6), 433-442. [More Information]
  • North, K. (2008). Why is {alpha}-Actinin-3 Deficiency So Common in the General Population? The Evolution of Athletic Performance. Twin Research and Human Genetics, 11(4), 384-394. [More Information]

2007

  • MacArthur, D., North, K. (2007). ACTN3: A genetic influence on muscle function and athletic performance. Exercise and Sport Sciences Reviews, 35(1), 30-34. [More Information]
  • Watt, S., Shores, E., North, K. (2007). An Examination of Lexical and Sublexical Reading Skills in Children with Neurofibromatosis Type 1. Neuropsychology, Development, and Cognition. Section C: Child Neuropsychology, 14(5), 401-418. [More Information]
  • Moran, C., Yang, N., Bailey, M., Tsiokanos, A., Jamurtas, A., MacArthur, D., North, K., Pitsiladis, Y., Wilson, R. (2007). Association analysis of the ACTN3 R577X polymorphism and complex quantitative body composition and performance phenotypes in adolescent Greeks. European Journal of Human Genetics, 15, 88-93.
  • Dulai, S., Briody, J., Schindeler, A., North, K., Cowell, C., Little, D. (2007). Decreased bone mineral density in neurofibromatosis type 1: results from a pediatric cohort. Journal of Pediatric Orthopaedics, 27(4), 472-475. [More Information]
  • Eisenberg, I., Eran, A., Nishino, I., Moggio, M., Lamperti, C., Amato, A., Lidov, H., Kang, P., North, K., Mitrani-Rosenbaum, S., et al (2007). Distinctive patterns of microRNA expression in primary muscular disorders. Proceedings of the National Academy of Sciences (PNAS) of the United States of America, 104(43), 17016-17021. [More Information]
  • Cooper, S., Kizana, E., Yates, J., Lo, H., Yang, N., Wu, Z., Alexander, I., North, K. (2007). Dystrophinopathy carrier determination and detection of protein deficiencies in muscular dystrophy using lentiviral MyoD-forced myogenesis. Neuromuscular Disorders, 17(4), 276-284. [More Information]
  • MacArthur, D., North, K. (2007). Genes and human elite athletic performance. In Pitsiladis Y; Bale J; Sharp C; Noakes T (Eds.), East African running: towards a cross-disciplinary perspective, (pp. 217-233). United States and Canada: Routledge imprint of Taylor & Francis.
  • Domazetovska, A., Ilkovski, B., Kumar, V., Valova, V., Vandebrouck, A., Hutchinson, D., Robinson, P., Cooper, S., Sparrow, J., Peckham, M., North, K. (2007). Intranuclear rod myopathy: molecular pathogenesis and mechanisms of weakness. Annals of Neurology, 62(6), 597-608. [More Information]
  • MacArthur, D., Seto, J., Raftery, J., Quinlan (nee Edwards), K., Huttley, G., Hook, J., Lemckert, F., Kee, A., Edwards, M., Berman, Y., Hardeman, E., Gunning, P., Yang, N., North, K., et al (2007). Loss of ACTN3 gene function alters mouse muscle metabolism and shows evidence of positive selection in humans. Nature Genetics, 39(10), 1261-1265. [More Information]
  • Domazetovska, A., Ilkovski, B., Cooper, S., Ghoddusi, M., Hardeman, E., Minamide, L., Gunning, P., Bamburg, J., North, K. (2007). Mechanisms underlying intranuclear rod formation. Brain, 130(12), 3275-3284. [More Information]
  • Baker, N., Morgelin, M., Pace, R., Peat, R., Adams, N., Gardner, R., Rowland, L., Miller, G., De Jonghe, P., Ceulemans, B., North, K., et al (2007). Molecular consequences of dominant Bethlem myopathy collagen VI mutations. Annals of Neurology, 62(4), 390-405. [More Information]
  • North, K. (2007). Nemaline myopathy with exclusively intranuclear rods and a novel mutation in ACTA1 (Q139H). Neuropediatrics: journal of pediatric neurobiology, neurology and neurosurgery, 38(6), 282-286. [More Information]
  • Young, H., Lowe, A., Fitzgerald, D., Seton, C., Waters, K., Kenny, E., Hynan, L., Iannaccone, S., North, K., Ryan, M. (2007). Outcome of noninvasive ventilation in children with neuromuscular disease. Neurology, 68(3), 198-201. [More Information]
  • Godfrey, C., Clement, E., Mein, R., Brockington, M., Smith, J., Talim, B., Straub, V., Robb, S., Quinlivan, R., Feng, L., North, K., et al (2007). Refining genotype phenotype correlations in muscular dystrophies with defective glycosylation of dystroglycan. Brain, 130(10), 2725-2735. [More Information]
  • Hyman, S., Gill, D., Shores, E., Steinberg, A., North, K. (2007). T2-Hyperintensities in children with neurofibromatosis type 1 and their relationship to cognitive functioning. Journal of Neurology, Neurosurgery and Psychiatry, 78(10), 1088-1091. [More Information]
  • Yang, N., Macarthur, D., Wolde, B., Onywera, V., Boit, M., Lau, S., Wilson, R., Scott, R., Pitsiladis, Y., North, K. (2007). The ACTN3 R577X Polymorphism in East and West African Athletes. Medicine and Science in Sports and Exercise, 39(11), 1985-1988. [More Information]
  • Clarke, N., Ilkovski, B., Cooper, S., Valova, V., Robinson, P., Nonaka, I., Feng, J., Marston, S., North, K. (2007). The pathogenesis of ACTA1-related congenital fiber type disproportion. Annals of Neurology, 61(6), 552-561. [More Information]
  • Barton, B., North, K. (2007). The self-concept of children and adolescents with neurofibromatosis type 1. Child: Care, Health and Development, 33(4), 401-408. [More Information]
  • Vlahovich, N., Schevzov, G., Nair-Shalliker, V., Ilkovski, B., Artap, S., Joya, J., Kee, A., North, K., Gunning, P., Hardeman, E. (2007). Tropomyosin 4 defines novel filaments in skeletal muscle associated with muscle remodelling/regeneration in normal and diseased muscle. Cell Motility and the Cytoskeleton, 65(online 29 Oct 2007), 73-85. [More Information]
  • Peat, R., Baker, N., Jones, K., North, K., Lamande, S. (2007). Variable penetrance of COL6A1 null mutations: Implications for prenatal diagnosis and genetic counselling in Ullrich congenital muscular dystrophy families. Neuromuscular Disorders, 17(7), 547-557. [More Information]

2006

  • Clarke, N., Gonzalez, V., Kornberg, A., Shield, L., Manson, J., Smith, R., Beggs, A., Arbuckle, S., Dennett, X., Nonaka, I., North, K., et al (2006). A clinical and pathological study of congenital fibre type disproportion. Neuromuscular Disorders, 16(9-10), 646-646.
  • MacArthur, D., Yang, N., Seto, J., Raftery, J., Kee, A., Hardeman, E., Gunning, P., North, K. (2006). A gene for speed: the ACTN3 R577X polymorphism influences muscle performance. Neuromuscular Disorders, 16(Supplement 1), S59-S59.
  • Hernandez-Deviez, D., Martin, S., Laval, S., Lo, H., Cooper, S., North, K., Bushby, K., Parton, R. (2006). Aberrant dysferlin trafficking in cells lacking caveolin or expressing dystrophy mutants of caveolin-3. Human Molecular Genetics, 15(1), 129-142.
  • Gill, D., Hyman, S., Steinberg, A., North, K. (2006). Age-related findings on MRI in neurofibromatosis type 1. Pediatric Radiology: roentgenology, nuclear medicine, ultrasonics, CT, MRI, 36(10), 1048-1056. [More Information]
  • Hutchinson, D., Charlton, A., Laing, N., Ilkovski, B., North, K. (2006). Autosomal dominant nemaline myopathy with intranuclear rods due to mutation of the skeletal muscle ACTA1 gene: Clinical and pathological variability within a kindred. Neuromuscular Disorders, 16(2), 113-121.
  • Butler, T., Au, C., Yang, B., Egan, J., Tan, Y., Hardeman, E., North, K., Verkman, A., Winlaw, D. (2006). Cardiac aquaporin expression in humans, rats, and mice. American Journal of Physiology: Heart and Circulatory Physiology, 291(2), H705-H713. [More Information]
  • North, K., Ryan, M. (2006). Congenital Myopathies. In John H. Noseworthy (Eds.), Neurological Therapeutics, Principles and Practice, (pp. 2607-2618). United Kingdom: Taylor & Francis.
  • Peat, R., Baker, N., Jones, K., Lamande, S., North, K. (2006). Defining the aetiology of congenital muscular dystrophy in a large cohort. XIth International Congress on Neuromuscular Diseases, United Kingdom: Elsevier.
  • Ryan, M., Sy, C., Rudge, S., Ellaway, C., Ketteridge, D., Roddick, L., Iannaccone, S., Kornberg, A., Silberstein, J., North, K. (2006). Dietary L-tyrosine supplementation in nemaline myopathy. Neuromuscular Disorders, 16(S1), S88-S88.
  • Clarke, N., Ilkovski, B., Nonaka, I., Feng, J., Marston, S., North, K. (2006). Investigating the pathogenesis of ACTA1-related congenital fibre type disproportion. Neuromuscular Disorders, 16(Supplement 1), s61-s61.
  • Hyman, S., Shores, E., North, K. (2006). Learning disabilities in children with neurofibromatosis type 1: subtypes, cognitive profile, and attention-deficit-hyperactivity disorder. Developmental Medicine and Child Neurology, 48(12), 973-977. [More Information]
  • Godfrey, C., Mein, R., Brockington, M., Elson, E., Topaloglu, H., Smith, J., Escolar, D., Bertini, E., Merlini, G., Mercuri, E., North, K., et al (2006). Molecular genetic analysis of 6 glycosyltransferases in a large population of dystroglycanopathy patients significantly widens the spectrum of phenotypes resulting from POMT1, POMGnT1 and Fukutin mutations. 11th International Congress of the World Muscle Society, United Kingdom: Elsevier.
  • Senderek, J., Krieger, M., Stendel, C., North, K., Muntoni, F., Quijano-Roy, S., Ebinger, F., Schroder, J., Voit, T., Weis, J. (2006). Mutations in SIL1 cause Marinesco-Sjogren syndrome, a cerebellar ataxia with cataract and myopathy. 11th International Congress of the World Muscle Society, United Kingdom: Elsevier.
  • Egan, J., Butler, T., Au, C., Tan, Y., North, K., Winlaw, D. (2006). Myocardial water handling and the role of aquaporins. BBA - Bioenergetics, 1758 (8), 1043-1052. [More Information]
  • Harper, C., North, K., Shingde, M., Spring, P., Wills, E., Dye, D., Laing, N. (2006). Myosin storage (hyaline body) myopathy: A case report. Neuromuscular Disorders, 16(12), 882-886. [More Information]
  • North, K., Cooper, S. (2006). Protein diagnosis in the dystrophinopathies. In Jeffrey S. Chamberlain, Thomas A. Rando (Eds.), Duchenne muscular dystrophy: advances in Therapeutics, (pp. 105-118). United States of America: Taylor & Francis.
  • Roberts, H., Day, B., Lo, H., McLean, C., North, K. (2006). Rippling muscle disease. Journal of Clinical Neuroscience, 13(5), 576-578.
  • Clarke, N., Kidson, W., Quijano-Roy, S., Estournet, B., Ferreiro, A., Guicheney, P., Manson, J., Kornberg, A., Shield, L., North, K. (2006). SEPN1: associated with congenital fiber-type disproportion and insulin resistance. Annals of Neurology, 59(3), 546-552. [More Information]
  • Tay, V., Chiotis, M., Reardon, K., Lo, H., North, K. (2006). The clinical and molecular characterisation of calpain deficiency in patients with neuromuscular disorders. 11th International Congress of the World Muscle Society, United Kingdom: Elsevier.
  • Domazetovska, A., Ilkovski, B., Cooper, S., Valova, V., Lemckert, F., Hook, J., Hardeman, E., Robinson, P., Yang, N., Gunning, P., North, K. (2006). Unravelling the thin filament: mechanisms of weakness in inherited muscle disease. Neuromuscular Disorders, 16(Sup. 1), S60-S61.

2005

  • Clarke, N., Smith, R., Bahlo, M., North, K. (2005). A novel X-linked form of congenital fiber-type disproportion. Annals of Neurology, 58(5), 767-772. [More Information]
  • Corbett, M., Akkari, A., Domazetovska, A., Cooper, S., North, K., Laing, N., Gunning, P., Hardeman, E. (2005). An alphaTropomyosin mutation alters dimer preference in nemaline myopathy. Annals of Neurology, 57(1), 42-49. [More Information]
  • North, K., Ryan, M. (2005). Congenital Myopathies. In Harvey S. Singer, Eric H. Kossoff, Adam L. Hartman, Thomas O. Crawford (Eds.), Treatment of Pediatric Neurologic disorders, (pp. 185-190). United States of America: Taylor & Francis.
  • Ilkovski, B., Clement, S., Sewry, C., North, K., Cooper, S. (2005). Defining alpha-skeletal and alpha-cardiac actin expression in human heart and skeletal muscle explains the absence of cardiac involvement in ACTA1 nemaline myopathy. Neuromuscular Disorders, 15(12), 829-835. [More Information]
  • Baker, N., Morgelin, M., Peat, R., Goemans, N., North, K., Bateman, J., Lamande, S. (2005). Dominant collagen VI mutations are a common cause of Ullrich congenital muscular dystrophy. Human Molecular Genetics, 14(2), 279-293.
  • MacArthur, D., North, K. (2005). Genes and human elite athletic performance. Human Genetics, 116(5), 331-339. [More Information]
  • Senderek, J., Krieger, M., Stendel, C., Bergmann, C., Moser, M., Breitbach-Faller, N., Rudnik-Schöneborn, S., Blaschek, A., Wolf, N., et, A., North, K., Smith, J. (2005). Mutations in SIL1 cause Marinesco-Sjögren syndrome, a cerebellar ataxia with cataract and myopathy. Nature Genetics, 37(12), 1312-1314. [More Information]
  • Minkler, P., Kerner, J., North, K., Hoppel, C. (2005). Quantitation of long-chain acylcarnitines by HPLC/fluorescence detection: application to plasma and tissue specimens from patients with carnitine palmitoyltransferase-II deficiency. Clinica Chimica Acta, 352(01-Feb), 81-92. [More Information]
  • Hyman, S., Shores, A., North, K. (2005). The nature and frequency of cognitive deficits in children with neurofibromatosis type 1. Neurology, 65(7), 1037-1044. [More Information]
  • Compton, A., Cooper, S., Hill, P., Yang, N., Froehner, S., North, K. (2005). The syntrophin-dystrobrevin subcomplex in human neuromuscular disorders. Journal of Neuropathology and Experimental Neurology, 64(4), 350-361. [More Information]

2004

  • MacArthur, D., North, K. (2004). A Gene For Speed? The Evolution And Function Of Alpha-Actinin-3. BioEssays, 26(7), 786-795. [More Information]
  • Laing, N., Clarke, N., Dye, D., Liyanage, K., Walker, K., Kobayashi, Y., Shimakawa, S., Hagiwara, T., Ouvrier, R., Sparrow, J., North, K., et al (2004). Actin Mutations Are One Cause Of Congenital Fibre Type Disproportion. Annals of Neurology, 56(5), 689-694.
  • Allen, D., Hardeman, E., North, K., Alexander, I., Cooper, S., Maxwell, A., Kizana, E., Ghoddusi, M. (2004). C2C12 Co-Culture On A Fibroblast Substratum Enables Sustained Survival Of Contractile, Highly Differentiated Myotubes With Peripheral Nuclei And Adult Fast Myosin Expression. Cell Motility and the Cytoskeleton, 58(3), 200-211. [More Information]
  • North, K. (2004). Congenital Myopathies. In Andrew G. Engel, Clara Franzini-Armstrong (Eds.), Myology: basic and clinical, 3rd Edition, (pp. 1473-1533). New York , USA: McGraw-Hill Professional Publishing.
  • Favaloro, E., Zafer, M., Nair, S., Hertzberg, M., North, K. (2004). Evaluation Of Primary Haemostasis In People With Neurofibromatosis Type 1. Clinical and Laboratory Haematology, 26(5), 341-345.
  • North, K., Nowak, K., Cooper, S., Maxwell, A., Clement, S., Davies, K., Laing, N., Ilkovski, B., Domazetovska, A. (2004). Evidence For A Dominant-Negative Effect In Acta1 Nemaline Myopathy Caused By Abnormal Folding, Aggregation And Altered Polymerization Of Mutant Actin Isoforms. Human Molecular Genetics, 13(16), 1727-1743.
  • North, K., Winlaw, D., Cooper, S., Au, C., Yang, N., Lo, H., Compton, A., Wintour, M. (2004). Expression Of Aquaporin 1 In Human Cardiac And Skeletal Muscle. Journal of Molecular and Cellular Cardiology, 36(5), 655-662.
  • Wallgren-Pettersson, C., Pelin, K., Nowak, K., Muntoni, F., Romero, N., Goebel, H., Laing, N., North, K., Beggs, A. (2004). Genotype-Phenotype Correlations In Nemaline Myopathy Caused By Mutations In The Genes For Nebulin And Skeletal Muscle Alpha-Actin. Neuromuscular Disorders, 14(8-9), 461-470.
  • Jungbluth, H., Sewry, C., Counsell, S., Allsop, J., Chattopadhyay, A., Mercuri, E., North, K., Laing, N., Bydder, G., Pelin, K., et al (2004). Magnetic Resonance Imaging Of Muscle In Nemaline Myopathy. Neuromuscular Disorders, 14, 779-784.
  • North, K., Flaherty, M., Thiagalingam, S., Billson, F. (2004). Neurofibromatosis Type 1 And Optic Pathway Gliomas: Follow-Up Of 54 Patients. Ophthalmology, 111(3), 568-577.
  • Yates, K., Festa, M., Gillis, J., Waters, K., North, K. (2004). Outcome Of Children With Neuromuscular Disease Admitted To Paediatric Intensive Care. Archives of Disease in Childhood, 89, 170-175.
  • North, K., Barton, B. (2004). Social Skills Of Children With Neurofibromatosis Type 1. Developmental Medicine and Child Neurology, 46(8), 553-563.

2003

  • Yang, N., MacArthur, D., Gulbin, J., Hahn, A., Beggs, A., Easteal, S., North, K. (2003). ACTN3 genotype is associated with human elite athletic performance. American Journal of Medical Genetics. Part A, 73, 627-632.
  • Clarke, N., North, K. (2003). Congenital fiber type disproportion - 30 years on. Journal of Neuropathology and Experimental Neurology, 62(10), 977-989.
  • Jones, K., North, K. (2003). Congenital Muscular Dystrophies. In H. R. Jones, D. C. De Vivo, B. T. Darras (Eds.), Neuromuscular Disorders Of Infancy, Childhood, And Adolescence: A Clinicians Approach, (pp. 633-647). Amsterdam: Butterworth Heinemann.
  • North, K., Goebel, H. (2003). Congenital Myopathies. In H. R. Jones, D. C. De Vivo, B. T. Darras (Eds.), Neuromuscular Disorders Of Infancy, Childhood, And Adolescence: A Clinicians Approach, (pp. 601-632). Amsterdam: Butterworth Heinemann.
  • Jones, K., Compton, A., Yang, N., Mills, M., Peters, M., Mowat, D., Kunkel, L., Froehner, S., North, K. (2003). Defiency of the syntrophins and alpha-dystrobrevin in patients with inherited myopathy. Neuromuscular Disorders, 13, 456-467.
  • Hyman, S., Gill, D., Shores, E., Steinberg, A., Joy, P., Gibikote, S., North, K. (2003). Natural history of cognitive deficits and their relationship to MRI T2-hyperintensities in NF1. Neurology, 60(7), 1139-1145.
  • Davis, M., Haan, E., Jungbluth, H., Sewry, C., North, K., Muntoni, C., Kuntzer, T., Lamont, P., Bankier, A., Tomlinson, P., et al (2003). Principal mutation hotspot for central core disease and related myopathies in the C-terminal transmembrane region of the RYR1 gene. Neuromuscular Disorders, 13(2), 151-157.
  • Cooper, S., Lo, S., North, K. (2003). Single section Western blot. Improving the molecular diagnosis of the muscular dystrophies. Neurology, 61(1), 93-97.
  • Swoboda, K., North, K., Specht, L. (2003). Spinal Muscular Atrophy. In Samuelss, Feske (Eds.), Office Practice of Neurology, 2nd Edition, (pp. 553-557). USA: Churchill Livingstone.
  • Ratner, N., North, K. (2003). The central nervous system in neurofibromatiosis type 1. In Gene S. Fisch (Eds.), Genetics And Genomics Of Neurobehavioral Disorders, (pp. 97-131). USA: Humana Press.

2002

  • North, K., Barton, B., Hyman, S. (2002). Cognitive deficits in neurofibromatosis 1. Journal of Child Neurology, 17(8), 605-612.
  • North, K., Gutmann, D., Rasmussen, S., Wolkenstein, P., MacCollin, M., Guha, A., Inskip, P., Poyhonen, M., Birch,, P., Friedman, J. (2002). Gliomas presenting after age 10 in individuals with neurofibromatosis type 1 (NF1). Neurology, 59(5), 759-761.
  • North, K. (2002). Nemaline Myopathy. In R. A. Pagon T. D. Bird, C. R. Dolan, G. L. Feldman, R. J. Smith, N. Stevens (Eds.), Gene Reviews (formerly Gene Clinics), (pp. 1-19). Seattle: BMJ Publishing Group.
  • Young, H., Hyman, S., North, K. (2002). Neurofibromatosis 1: clinical review and exceptions to the rules. Journal of Child Neurology, 17(8), 613-621.
  • Bonnemann, C., Wong, J., Jones, K., Lidov, H., Feener, C., Shapiro, F., Darras, B., Kunkel, L., North, K. (2002). Primary �-sarcoglycanopathy (LGMD 2C): broadening of the mutational spectrum guided by the immunohistochemical profile. Neuromuscular Disorders, 12(3), 273-280.
  • Barton, B., North, K. (2002). Self-concept of children with neurofibromatosis Type 1 (NF1). 2nd International Biennial conference, Online: Self Research Centre.

2001

  • Corbett, M., Gunning, P., North, K., Hardeman, E., Robinson, C., Dunglison,, G., Yang, N., Joya, J., Stewart, A., Schnell, C. (2001). A mutation in alpha-tropomyosin slow affects muscle strength, maturation and hypertrophy in a mouse model for nemaline myopathy. Human Molecular Genetics, 10, 317-328.
  • Jones, K., North, K., He,, Y., Vignier, N., Morgan, G., Chevallay,, M., Barois, A., Estournet-Mathiaud,, B., Hori, H., Mizuta,, T., et al (2001). Congenital muscular dystrophy with primary partial laminin alpha-2 chain deficiency: Molecular study. Neurology, 57, 1319-1322.
  • Weinberger, R., North, K., Mills,, M., Yang, N., Vander, W., Beggs, A., Easteal, S. (2001). Differential expression of the actin-binding proteins, alpha-actinin-2 and -3, in different species: implications for the evolution of functional redundancy. Human Molecular Genetics, 10, 1335-1346.
  • Ilkovski, B., Ryan, M., Gunning, P., Hardeman, E., North, K., Cooper, S., Nowak, K., Yang, N., Schnell, C., Durling, H., et al (2001). Nemaline myopathy caused by mutations in the muscle alpha-skeletal-acting gene. American Journal of Human Genetics, 68, 1333-1343.
  • Ryan, M., North, K., Schnell, C., Strickland, C., Shield, L., Morgan, G., Iannaccone, S., Laing, N., Beggs, A. (2001). Nemaline Myopathy: A clinical study of 143 cases. Annals of Neurology, 50, 312-320.
  • Jones, K., Ouvrier, R., North, K., Morgan, G., Johnston, H., Tobias, V., Wilkinson,, I. (2001). The expanding phenotype of laminin alpha-2 chain (merosin) abnormalities: case series and review. Journal of Medical Genetics, 38, 649-657.
  • North, K., Ng,, Y. (2001). Visual-evoked potentials in the assessment of optic gliomas. Pediatric Neurology, 24, 44-48.

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