Honorary Professor Kathryn North AM

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

C29 - Children's Hospital Westmead
The University of Sydney
NSW 2006 Australia

T: +61 2 9845 1906
F: +61 2 9845 3389

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.

Current national competitive grants*


Approaches to therapy for the skeletal muscle actin diseases
North K
NHMRC Project Grant ($293,430 over 3 years)

Molecular dissection of the functional regions of ACTN2 and ACTN3 and their contribution to normal variation in skeletal muscle function
North K
ARC Discovery Projects ($300,000 over 3 years)

Neuromuscular Disorders: Gene Discovery and Disease Mechanism
North K, Laing N, Nowak K, Clarke N, Buckley M
NHMRC Project Grants ($772,350 over 3 years)

Transforming the management of neuromuscular disorders from compassionate assistance to targeted therapy and prevention
North K, Laing N, Burns J, Clarke N, Corbett A, Refshauge K, Buckley M, McLean C, Kornberg A, Ryan M
NHMRC Centres of Research Excellence ($2,496,650 over 5 years)

* Grants administered through the University of Sydney

International links

United States. (University of Washington, Seattle - Department of Physiology and Biophysics) Investigating the role of the syntrophin complex in human muscle.
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 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.
France. (Institute de Myologie, Paris) Investigating the molecular pathogenesis of muscular dystrophies.


2014 | 2013 | 2012 | 2011 | 2010 | 2009 | 2008


  • 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. [Abstract]
  • North, K., Wang, C., Clarke, N., Jungbluth, H., Vainzof, M., Dowling, J., Amburgey, K., Quijano-Roy, S., Beggs, A., Sewry, C., Laing, N., Bonnemann, C. (2014), Approach to the diagnosis of congenital myopathies. Neuromuscular Disorders. 24(2), 97-116. [Abstract]
  • Garton, F., Seto, J., Quinlan, K., Yang, N., Houweling, P., North, K. (2014), α-Actinin-3 deficiency alters muscle adaptation in response to denervation and immobilisation. Human Molecular Genetics. 23(7), 1879-1893. [Abstract]
  • Sullivan, K., El-Hoss, J., Quinlan, 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. [Abstract]
  • 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. [Abstract]
  • Thomas, K., Zheng, X., Garces Suarez, F., Raftery, J., Quinlan, 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. [Abstract]


  • Gupta, V., Ravenscroft, G., Shaheen, R., Todd, E., Swanson, L., Shiina, M., Ogata, K., Hsu, C., Clarke, N., Darras, B., Farrar, M., Hashem, A., Manton, N., Muntoni, F., North, K., Sandaradura, S., Nishino, I., Hayashi, Y., Sewry, C., Thompson, E., Yau, K., Brownstein, C., Yu, T., Allcock, R., Davis, M., Wallgren-Pettersson, C., Matsumoto, N., Alkuraya, F., Laing, N., Beggs, A. (2013), Identification of KLHL41 Mutations Implicates BTB-Kelch-Mediated Ubiquitination as an Alternate Pathway to Myofibrillar Disruption in Nemaline Myopathy. American Journal of Human Genetics. 93(6), 1-10. [Abstract]
  • Wang, G., Mikami, E., Chiu, L., de Perini, A., Deason, M., Fuku, N., Miyachi, M., Kaneoka, K., Murakami, H., Tanaka, M., Hsieh, L., Hsieh, S., Caporossi, D., Pigozzi, F., Hilley, A., Lee, R., Galloway, S., Gulbin, J., Rogozkin, V., Ahmetov, I., Yang, N., North, K., Ploutarhos, S., Montgomery, H., Bailey, M., Pitsiladis, Y. (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. [Abstract]
  • Seto, J., Quinlan, K., Lek, M., Zheng, X., Garton, F., MacArthur, D., Hogarth, M., Houweling, P., Gregorevic, P., Turner, N., Cooney, G., Yang, N., North, K. (2013), ACTN3 genotype influences muscle performance through the regulation of calcineurin signaling. Journal of Clinical Investigation. 123(10), 4255-4263. [Abstract]
  • 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. [Abstract]
  • 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. [Abstract]
  • 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.e1. [Abstract]
  • 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. [Abstract]
  • Carss, K., Stevens, E., Foley, A., Cirak, S., Riemersma, M., Torelli, S., Hoischen, A., Willer, T., van Scherpenzeel, M., Moore, S., Messina, S., Bertini, E., Bonnemann, C., Abdenur, J., Grosmann, C., Kesari, A., Punetha, J., Quinlivan, R., Waddell, L., Young, H., Wraige, E., Yau, S., Brodd, L., Feng, L., Sewry, C., MacArthur, D., North, K., Hoffman, E., Stemple, D., Hurles, M., van Bokhoven, H., Campbell, K., Lefeber, D., Lin, Y., Muntoni, F. (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. [Abstract]
  • Ravenscroft, G., Miyatake, S., Lehtokari, V., Todd, E., Vornanen, P., Yau, K., Hayashi, Y., Miyake, N., Tsurusaki, Y., Doi, H., Saitsu, H., Osaka, H., Yamashita, S., Ohya, T., Sakamoto, Y., Koshimizu, E., Imamura, S., Yamashita, M., Ogata, K., Shiina, M., Bryson-Richardson, R., Vaz, R., Ceyhan, O., Brownstein, C., Swanson, L., Monnot, S., Romero, N., Amthor, H., Kresoje, N., Sivadorai, P., Kiraly-Borri, C., Haliloglu, G., Talim, B., Orhan, D., Kale, G., Charles, A., Fabian, V., Davis, M., Lammens, M., Sewry, C., Manzur, A., Muntoni, F., Clarke, N., North, K., Bertini, E., Nevo, Y., Willichowski, E., Silberg, I., Topaloglu, H., Beggs, A., Allcock, R., Nishino, I., Wallgren-Pettersson, C., Matsumoto, N., Laing, N. (2013), Mutations in KLHL40 are a frequent cause of severe autosomal-recessive nemaline myopathy. American Journal of Human Genetics. 93(1), 6-18. [Abstract]
  • Oates, E., Rossor, A., Hafezparast, M., Gonzalez, M., Speziani, F., Macarthur, D., Lek, M., Cottenie, E., Scoto, M., Foley, A., Hurles, M., Houlden, H., Greensmith, L., Auer-Grumbach, M., Pieber, T., Strom, T., Schule, R., Herrmann, D., Sowden, J., Acsadi, G., Menezes, M., Clarke, N., Zuchner, S., Muntoni, F., North, K., Reilly, M. (2013), Mutations in BICD2 Cause Dominant Congenital Spinal Muscular Atrophy and Hereditary Spastic Paraplegia. American Journal of Human Genetics. 92, 965-973. [Abstract]
  • Clarke, N., Amburgey, K., Teener, J., Camelo-Piragua, S., Kesari, A., Punetha, J., Waddell, L., Davis, M., Laing, N., Monnier, N., North, K., Hoffman, E., Dowling, J. (2013), A novel mutation expands the genetic and clinical spectrum of MYH7-related myopathies. Neuromuscular Disorders. 23(5), 432-436. [Abstract]
  • 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. [Abstract]
  • 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. [Abstract]
  • Mokbel, N., Ilkovski, B., Kreissl, M., Memo, M., Jeffries, C., Marttila, M., Lehtokari, V., Lemola, E., Gronholm, M., Yang, N., Menard, D., Marcorelles, P., Echaniz-Laguna, A., Reimann, J., Vainzof, M., Monnier, N., Ravenscroft, G., McNamara, E., Nowak, K., Laing, N., Wallgren-Pettersson, C., Trewhella, J., Marston, S., Ottenheijm, C., North, K., Clarke, N. (2013), K7del is a common TPM2 gene mutation associated with nemaline myopathy and raised myofibre calcium sensitivity. Brain. 136(Pt 2), 494-507. [Abstract]
  • 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), e52282. [Abstract]


  • 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. [Abstract]
  • Ardern-Holmes, S., North, K. (2012), Treatment for plexiform neurofibromas in patients with NF1. Lancet Oncology. 13(12), 1175-1176. [Abstract]
  • 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. [Abstract]
  • Acosta, M., Bearden, C., Castellanos, X., Cutting, L., Elgersma, Y., Gioia, G., Gutmann, D., Lee, Y., Legius, E., Muenke, M., North, K., Parada, L., Ratner, N., Hunter-Schaedle, K., Silva, A. (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. [Abstract]
  • 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. [Abstract]
  • 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. [Abstract]
  • Menezes, M., North, K. (2012), Inherited neuromuscular disorders: Pathway to diagnosis. Journal of Paediatrics and Child Health. 48(6), 458-465. [Abstract]
  • Oates, E., Reddel, S., Rodriguez, M., Gandolfo, L., Bahlo, M., Hawke, S., Lamand��, 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. 135(Pt 6), 1714-1723. [Abstract]
  • 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. [Abstract]
  • 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), 0. [Abstract]
  • Menezes, M., Waddell, L., Evesson, F., Cooper, S., Webster, R., Jones, K., Mowat, D., Kiernan, M., Johnston, H., Corbett, A., Harbord, M., North, K., Clarke, N. (2012), Importance and challenge of making an early diagnosis in LMNA-related muscular dystrophy. Neurology. 78(16), 1258-1263. [Abstract]
  • Wang, C., Dowling, J., North, K., Schroth, M., Sejersen, T., Shapiro, F., Bellini, J., Weiss, H., Guillet, M., Amburgey, K., Apkon, S., Bertini, E., Bonnemann, C., Clarke, N., Connolly, A., Estournet-Mathiaud, B., Fitzgerald, D., Florence, J., Gee, R., Gurgel-Giannetti, J., Glanzman, A., Hofmeister, B., Jungbluth, H., Koumbourlis, A., Laing, N., Main, M., Morrison, L., Munns, C., Rose, K., Schuler, P., Sewry, C., Storhaug, K., Vainzof, M., Yuan, N. (2012), Consensus statement on standard of care for congenital myopathies. Journal of Child Neurology. 27(3), 363-382. [Abstract]
  • Kalamarides, M., Acosta, M., Babovic-Vuksanovic, D., Carpen, O., Cichowski, K., Evans, D., Giancotti, F., Hanemann, C., Ingram, D., Lloyd, A., Mayes, D., Messiaen, L., Morrison, H., North, K., Packer, R., Pan, D., Stemmer-Rachamimov, A., Upadhyaya, M., Viskochil, D., Wallace, M., Hunter-Schaedle, K., Ratner, N. (2012), Neurofibromatosis 2011: a report of the Children's Tumor Foundation annual meeting. Acta Neuropathologica. 123(3), 369-380. [Abstract]
  • Lek, A., Evesson, F., Sutton, R., North, K., Cooper, S. (2012), Ferlins; regulators of vesicle fusion for auditory neurotransmission, receptor trafficking and membrane repair. Traffic. 13(2), 185-194. [Abstract]
  • Waddell, L., Evesson, F., North, K., Cooper, S., Clarke, N. (2012), Diagnosis of the Muscular Dystrophies. In: Muscular Dystrophy. (pp.261-288).Croatia: InTech.
  • Fitzsimons, D., Jones, D., Barton, B., North, K. (2012), A procedure for the computerised analysis of cleft palate speech transcription. Clinical Linguistics & Phonetics. 26(1), 18-38. [Abstract]


  • North, K. (2011), Clinical approach to the diagnosis of congenital myopathies. Seminars in Pediatric Neurology. 18(4), 216-220. [Abstract]
  • Ardern-Holmes, S., North, K. (2011), Therapeutics for Childhood Neurofibromatosis Type 1 and Type 2. Current treatment options in neurology. 13(6), 529-43. [Abstract]
  • 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. [Abstract]
  • Nguyen, M., Joya, J., Kee, A., Domazetovska, A., Yang, N., Hook, J., Lemckert, F., Kettle, E., Valova, V., Robinson, P., North, K., Gunning, P., Mitchell, C., Hardeman, E. (2011), Hypertrophy and dietary tyrosine ameliorate the phenotypes of a mouse model of severe nemaline myopathy. Brain. 134(Pt 12), 3516-3529. [Abstract]
  • Waddell, L., Tran, J., Zheng, X., Bönnemann, 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 : NMD. 21(11), 776-81. [Abstract]
  • Yang, N., Schindeler, A., McDonald, M., Seto, J., Houweling, P., Lek, M., Hogarth, M., Morse, A., Raftery, J., Balasuriya, D., Macarthur, D., Berman, Y., Quinlan, K., Eisman, J., Nguyen, T., Center, J., Prince, R., Wilson, S., Zhu, K., Little, D., North, K. (2011), α-Actinin-3 deficiency is associated with reduced bone mass in human and mouse. Bone. 49(4), 790-798. [Abstract]
  • Waddell, L., Monnier, N., Cooper, S., North, K., Clarke, N. (2011), Using complementary DNA from MyoD-transduced fibroblasts to sequence large muscle genes. Muscle & Nerve. 44(2), 280-282. [Abstract]
  • Pistilli, E., Bogdanovich, S., Garton, F., Yang, N., Gulbin, J., Conner, J., Anderson, B., Quinn, L., North, K., Ahima, R., Khurana, T. (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. [Abstract]
  • 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(8), 557-62. [Abstract]
  • Seto, J., Lek, M., Quinlan, K., Houweling, P., Zheng, X., Garton, F., Macarthur, D., Raftery, J., Garvey, S., Hauser, M., Yang, N., Head, S., North, K. (2011), Deficiency of {alpha}-Actinin-3 is Associated with Increased Susceptibility to Contraction-Induced Damage and Skeletal Muscle Remodeling. Human molecular genetics. 20(15), 2914-27. [Abstract]
  • Yiu, E., Klausegger, A., Waddell, L., Grasern, N., Lloyd, L., Tran, K., North, K., Bauer, J., McKelvie, P., Chow, C., Ryan, M., Murrell, D. (2011), Epidermolysis bullosa with late-onset muscular dystrophy and plectin deficiency. Muscle & Nerve. 44(1), 135-141. [Abstract]
  • 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), 660-5. [Abstract]
  • Waddell, L., Lemckert, F., Zheng, X., Tran, J., Evesson, F., Hawkes, J., Lek, A., Street, N., Lin, P., Clarke, N., Landstrom, A., Ackerman, M., Weisleder, N., Ma, J., North, K., Cooper, S. (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. [Abstract]
  • Seto, J., Chan, S., Turner, N., Macarthur, D., Raftery, J., Berman, Y., Quinlan, 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. [Abstract]
  • Lo, H., Bertini, E., Mirabella, M., Domazetovska, A., Dale, R., Petrini, S., D'Amico, A., Valente, E., Barresi, R., Roberts, M., Tozzi, G., Tasca, G., Cooper, S., Straub, V., North, K. (2011), Mosaic caveolin-3 expression in acquired rippling muscle disease without evidence of myasthenia gravis or acetylcholine receptor autoantibodies. Neuromuscular disorders : NMD. 21(3), 194-203. [Abstract]
  • 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. 92(1), 57-65. [Abstract]
  • Sangster, J., Shores, E., Watt, S., North, K. (2011), The Cognitive Profile of Preschool-Aged Children with Neurofibromatosis Type 1. Child neuropsychology : a journal on normal and abnormal development in childhood and adolescence. 17(1), 1-16. [Abstract]
  • 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. Child neuropsychology : a journal on normal and abnormal development in childhood and adolescence. 17(4), 313-29. [Abstract]
  • Wang, D., Nykanen, M., Yang, N., Winlaw, D., North, K., Verkman, A., Owler, B. (2011), Altered cellular localisation of aquaporin-1 in experimental hydrocephalus in mice and reduced ventriculomegaly in aquaporin-1 deficiency. Molecular and cellular neurosciences. 46(4), 318-24. [Abstract]
  • 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 & nerve. 43, 37-48. [Abstract]
  • Koutsopoulos, O., Koch, C., Tosch, V., Böhm, 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), e27498. [Abstract]


  • Huson, S., Acosta, M., Belzberg, A., Bernards, A., Chernoff, J., Cichowski, K., Gareth Evans, D., Ferner, R., Giovannini, M., Korf, B., Listernick, R., North, K., Packer, R., Parada, L., Peltonen, J., Ramesh, V., Reilly, K., Risner, J., Schorry, E., Upadhyaya, M., Viskochil, D., Zhu, Y., Hunter-Schaedle, K., Giancotti, F. (2010), Back to the future: Proceedings from the 2010 NF Conference. American journal of medical genetics. Part A. (2). [Abstract]
  • Sambuughin, N., Yau, K., Olivé, M., Duff, R., Bayarsaikhan, M., Lu, S., Gonzalez-Mera, L., Sivadorai, P., Nowak, K., Ravenscroft, G., Mastaglia, F., North, K., Ilkovski, B., Kremer, H., Lammens, M., van Engelen, B., Fabian, V., Lamont, P., Davis, M., Laing, N., Goldfarb, L. (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. [Abstract]
  • 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. The Journal of biological chemistry. 285(43), 33567-76. [Abstract]
  • 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(0), 1188-94. [Abstract]
  • Evesson, F., Peat, R., Lek, A., Brilot, F., Lo, H., Dale, R., Parton, R., North, K., Cooper, S. (2010), Reduced plasma membrane expression of dysferlin mutants is due to accelerated endocytosis via a syntaxin-4 associated pathway. The Journal of biological chemistry. 285(37), 28529-39. [Abstract]
  • Berman, Y., North, K. (2010), A Gene for Speed: The Emerging Role of {alpha}-Actinin-3 in Muscle Metabolism. Physiology. 25(4), 250-259. [Abstract]
  • Garton, F., Seto, J., North, K., Yang, N. (2010), Validation of an automated computational method for skeletal muscle fibre morphometry analysis. Neuromuscular disorders : NMD. 20(8), 540-7. [Abstract]
  • 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), 2974-80. [Abstract]
  • 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. [Abstract]
  • 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), 834-41. [Abstract]
  • Clarke, N., Waddell, L., Cooper, S., Perry, M., Smith, R., Kornberg, A., Muntoni, F., Lillis, S., Straub, V., Bushby, K., Guglieri, M., King, M., Farrell, M., Marty, I., Lunardi, J., Monnier, N., North, K. (2010), Recessive mutations in RYR1 are a common cause of congenital fiber type disproportion. Human mutation. 31(7), E1544-50. [Abstract]
  • 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 : NMD. 20(7), 464-6. [Abstract]
  • 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), 429-41. [Abstract]
  • 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), 773-80. [Abstract]
  • Rose, K., Burns, J., North, K. (2010), Factors Associated With Foot and Ankle Strength in Healthy Preschool-Age Children and Age-Matched Cases of Charcot-Marie-Tooth Disease Type 1A. Journal of child neurology. 25(4), 463-8. [Abstract]
  • Quinlan, K., Seto, J., Turner, N., Vandebrouck, A., Floetenmeyer, M., Macarthur, D., Raftery, J., Lek, M., Yang, N., Parton, R., Cooney, G., North, K. (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. [Abstract]
  • Susman, R., Quijano-Roy, S., Yang, N., Webster, R., Clarke, N., Dowling, J., Kennerson, M., Nicholson, G., Biancalana, V., Ilkovski, B., Flanigan, K., Arbuckle, S., Malladi, C., Robinson, P., Vucic, S., Mayer, M., Romero, N., Urtizberea, J., García-Bragado, F., Guicheney, P., Bitoun, M., Carlier, R., North, K. (2010), Expanding the clinical, pathological and MRI phenotype of DNM2-related centronuclear myopathy. Neuromuscular Disorders. 20(4), 229-237. [Abstract]
  • 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. [Abstract]
  • Kissil, J., Blakeley, J., Ferner, R., Huson, S., Kalamarides, M., Mautner, V., McCormick, F., Morrison, H., Packer, R., Ramesh, V., Ratner, N., Rauen, K., Stevenson, D., Hunter-Schaedle, K., North, K. (2010), What's new in neurofibromatosis? Proceedings from the 2009 NF Conference: new frontiers. American Journal of Medical Genetics. Part A. 152A(2), 269-283. [Abstract]
  • 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 & Occupational Therapy in Pediatrics. 30(1), 43-53. [Abstract]
  • Rose, K., Burns, J., Wheeler, D., North, K. (2010), Interventions for increasing ankle range of motion in patients with neuromuscular disease. Cochrane Database of Systematic Reviews. 17(2), CD006973. [Abstract]
  • Lek, M., Quinlan, K., North, K. (2010), The evolution of skeletal muscle performance: gene duplication and divergence of human sarcomeric alpha-actinins. BioEssays. 32(1), 17-25. [Abstract]
  • Lek, A., Lek, M., North, K., Cooper, S. (2010), Phylogenetic analysis of ferlin genes reveals ancient eukaryotic origins. BMC Evolutionary Biology. 10, 231. [Abstract]
  • 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. [Abstract]
  • Scott, R., Irving, R., Irwin, L., Morrison, E., Charlton, V., Austin, K., Tladi, D., Deason, M., Headley, S., Kolkhorst, F., Yang, N., North, K., Pitsiladis, Y. (2010), ACTN3 and ACE genotypes in elite Jamaican and US sprinters. Medicine and Science in Sports and Exercise. 42(1), 107-112. [Abstract]


  • Butler, T., Egan, J., 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. [Abstract]
  • Bastiani, M., Liu, L., Hill, M., Jedrychowski, M., Nixon, S., Lo, H., Abankwa, D., Luetterforst, R., Fernandez-Rojo, M., Breen, M., Gygi, S., Vinten, J., Walser, P., North, K., Hancock, J., Pilch, P., Parton, R. (2009), MURC/Cavin-4 and cavin family members form tissue-specific caveolar complexes. The Journal of Cell Biology. 185(7), 1259-1273. [Abstract]
  • 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. [Abstract]
  • 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. [Abstract]
  • Rose, K., Burns, J., North, K. (2009), Relationship between foot strength and motor function in preschool-age children. Neuromuscular disorders : NMD. 19(0), 104-7. [Abstract]
  • Houweling, P., North, K. (2009), Sarcomeric α-actinins and their role in human muscle disease. Future Neurology. 4(6), 731-743.
  • 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-1a. BMC musculoskeletal disorders. 10(0), 51. [Abstract]
  • North, K., Shield, L. (2009), Muscle Disorders. In: Diseases of the Nervous System in Children. (pp.0).United States: Wiley-Blackwell Publishing, Inc..
  • Yang, N., Garton, F., North, K. (2009), alpha-actinin-3 and performance. Medicine and Sport Science. 54, 88-101. [Abstract]
  • North, K. (2009), Adolescent medicine: towards evidence based practice in a young specialty. In: Challenges in Adolescent Health: An Australian Perspective. (pp.ix-xi).United States: Nova Science Publishers.


  • Compton, A., Albrecht, D., Seto, J., Cooper, S., Ilkovski, B., Jones, K., Challis, D., Mowat, D., Ranscht, B., Bahlo, M., Froehner, S., North, K. (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), 714-24. [Abstract]
  • Burns, J., Bray, P., Cross, L., North, K., Ryan, M., Ouvrier, R. (2008), Hand involvement in children with Charcot-Marie-Tooth disease type 1A. Neuromuscular disorders : NMD. 18(0), 970-3. [Abstract]
  • Martin, P., Shelton, G., Dickinson, P., Sturges, B., Xu, R., LeCouteur, R., Guo, L., Grahn, R., Lo, H., North, K., Malik, R., Engvall, E., Lyons, L. (2008), Muscular dystrophy associated with alpha-dystroglycan deficiency in Sphynx and Devon Rex cats. Neuromuscular disorders : NMD. 18(12), 942-52. [Abstract]
  • Clement, E., Mercuri, E., Godfrey, C., Smith, J., Robb, S., Kinali, M., Straub, V., Bushby, K., Manzur, A., Talim, B., Cowan, F., Quinlivan, R., Klein, A., Longman, C., McWilliam, R., Topaloglu, H., Mein, R., Abbs, S., North, K., Barkovich, A., Rutherford, M., Muntoni, F. (2008), Brain involvement in muscular dystrophies with defective dystroglycan glycosylation. Annals of Neurology. 64(5), 573-582. [Abstract]
  • Egan, J., Butler, T., Cole, A., Aharonyan, A., Baines, D., Street, N., Navaratnam, M., Biecker, O., Zazulak, C., Au, C., Tan, Y., North, K., Winlaw, D. (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.e2. [Abstract]
  • 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), C897-904. [Abstract]
  • Cairns, A., North, K. (2008), Cerebrovascular Dysplasia in Neurofibromatosis Type 1. Journal of neurology, neurosurgery, and psychiatry. 79(10), 1165-70. [Abstract]
  • 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), 867-77. [Abstract]
  • 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), 235-46. [Abstract]
  • Watt, S., Shores, E., North, K. (2008), An Examination of Lexical and Sublexical Reading Skills in Children with Neurofibromatosis Type 1. Child neuropsychology : a journal on normal and abnormal development in childhood and adolescence. 14(0), 401-18. [Abstract]
  • Pace, R., Peat, R., Baker, N., Zamurs, L., Mörgelin, M., Irving, M., Adams, N., Bateman, J., Mowat, D., Smith, N., Lamont, P., Moore, S., Mathews, K., North, K., Lamandé, S. (2008), Collagen VI glycine mutations: perturbed assembly and a spectrum of clinical severity. Annals of neurology. 64(3), 294-303. [Abstract]
  • Peat, R., Gécz, J., Fallon, J., Tarpey, P., Smith, R., Futreal, A., Stratton, M., Lamandé, S., Yang, N., North, K. (2008), Exclusion of biglycan mutations in a cohort of patients with neuromuscular disorders. Neuromuscular disorders : NMD. 18(8), 606-9. [Abstract]
  • 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. [Abstract]
  • Peat, R., Smith, J., Compton, A., Baker, N., Pace, R., Burkin, D., Kaufman, S., Lamandé, S., North, K. (2008), The diagnosis and etiology of congenital muscular dystrophy. Neurology. 71(0), 312-21. [Abstract]
  • 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(0), 609-13. [Abstract]
  • North, K. (2008), What's new in congenital myopathies?. Neuromuscular disorders : NMD. 18(6), 433-42. [Abstract]
  • Rose, K., Burns, J., Ryan, M., Ouvrier, R., North, K. (2008), Reliability of quantifying foot and ankle muscle strength in very young children. Muscle & Nerve. 37(5), 626-631. [Abstract]
  • MacArthur, D., Seto, J., Chan, S., Quinlan, K., Raftery, J., Turner, N., Nicholson, M., Kee, A., Hardeman, E., Gunning, P., Cooney, G., Head, S., Yang, N., North, K. (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. [Abstract]
  • Clarke, N., Kolski, H., Dye, D., Lim, E., Smith, R., Patel, R., Fahey, M., Bellance, R., Romero, N., Johnson, E., Labarre-Vila, A., Monnier, N., Laing, N., North, K. (2008), Mutations in TPM3 are a common cause of congenital fiber type disproportion. Annals of Neurology. 63(3), 329-337. [Abstract]
  • Young, H., Barton, B., Waisbren, S., Portales 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. [Abstract]
  • Lo, H., Cooper, S., Evesson, F., Seto, J., Chiotis, M., Tay, V., Compton, A., Cairns, A., Corbett, A., Macarthur, D., Yang, N., Reardon, K., North, K. (2008), Limb-girdle muscular dystrophy: Diagnostic evaluation, frequency and clues to pathogenesis. Neuromuscular disorders : NMD. 18(0), 34-44. [Abstract]
  • Vlahovich, N., Schevzov, G., Nair-Shaliker, V., Ilkovski, B., Artap, S., Joya, J., Kee, A., North, K., Gunning, P., Hardeman, E. (2008), Tropomyosin 4 defines novel filaments in skeletal muscle associated with muscle remodelling/regeneration in normal and diseased muscle. Cell motility and the cytoskeleton. 65(0), 73-85. [Abstract]
  • Amsili, S., Zer, H., Hinderlich, S., Krause, S., Becker-Cohen, M., MacArthur, D., 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. [Abstract]
  • North, K., Laing, N. (2008), Skeletal Muscle Alpha-Actin Diseases. In: The Sarcomere and Skeletal Muscle Disease. (pp.15-27).United States: Springer.