Associate Professor Nigel Clarke

NHMRC Career Development Fellow (Level D)
Paediatrics & Child Health, Children's Hospital, Westmead

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

T: +61 2 9845 3062
F: +61 2 9845 3078
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Grants | Publications


Current national competitive grants*


Advancing the diagnosis and treatment of inherited muscle disorders
Clarke N
NHMRC Career Development Fellowship ($391,076 over 4 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


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


  • 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]


  • 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]
  • Ghaoui, R., Clarke, N., Hollingworth, P., Needham, M. (2013), Muscle disorders: the latest investigations. Internal Medicine Journal. 43(9), 970-978. [Abstract]
  • Romero, N., Sandaradura, S., Clarke, N. (2013), Recent advances in nemaline myopathy. Current Opinion in Neurology. 26(5), 519-526. [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]
  • Gibbs, E., Clarke, N., Rose, K., Oates, E., Webster, R., Feldman, E., Dowling, J. (2013), Neuromuscular junction abnormalities in DNM2-related centronuclear myopathy. Journal of Molecular Medicine. 91(6), 727-737. [Abstract]
  • de Winter, J., Buck, D., Hidalgo, C., Jasper, J., Malik, F., Clarke, N., Stienen, G., Lawlor, M., Beggs, A., Ottenheijm, C., Granzier, H. (2013), Troponin activator augments muscle force in nemaline myopathy patients with nebulin mutations. Journal of Medical Genetics. 50(6), 383-392. [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]
  • 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]
  • Amburgey, K., Bailey, A., Hwang, J., Tarnopolsky, M., Bonnemann, C., Medne, L., Mathews, K., Collins, J., Daube, J., Wellman, G., Callaghan, B., Clarke, N., Dowling, J. (2013), Genotype-phenotype correlations in recessive RYR1-related myopathies. Orphanet Journal of Rare Diseases. 8, 117. [Abstract]
  • Beatriz Romero, N., Clarke, N. (2013), Congenital myopathies. In: Handbook of Clinical Neurology, Volume 113, Pediatric Neurology Part III. (pp.1321-1336).Netherlands: Elsevier BV.


  • Hwang, J., Zorzato, F., Clarke, N., Treves, S. (2012), Mapping domains and mutations on the skeletal muscle ryanodine receptor channel. Trends in Molecular Medicine. 18(11), 644-657. [Abstract]
  • Tasca, G., Odgerel, Z., Monforte, M., Aurino, S., Clarke, N., Waddell, L., Udd, B., Ricci, E., Goldfarb, L. (2012), Novel FLNC mutation in a patient with myofibrillar myopathy in combination with late-onset cerebellar ataxia. Muscle & Nerve. 46(2), 275-282. [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]
  • 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]
  • 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]
  • Penttilä, S., Palmio, J., Suominen, T., Raheem, O., Evilä, A., Muelas Gomez, N., Tasca, G., Waddell, L., Clarke, N., Barboi, A., Hackman, P., Udd, B. (2012), Eight new mutations and the expanding phenotype variability in muscular dystrophy caused by ANO5. Neurology. 78(12), 897-903. [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]
  • Waddell, L., Evesson, F., North, K., Cooper, S., Clarke, N. (2012), Diagnosis of the Muscular Dystrophies. In: Muscular Dystrophy. (pp.261-288).Croatia: InTech.


  • Clarke, N. (2011), Congenital fiber-type disproportion. Seminars in Pediatric Neurology. 18(4), 264-271. [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]
  • 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]
  • 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]
  • Clarke, N. (2011), Congenital fibre type disproportion - A syndrome at the crossroads of the congenital myopathies. Neuromuscular Disorders. 21, 252-253. [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]
  • 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]


  • 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]
  • Makri, S., Clarke, N., Richard, P., Maugenre, S., Demay, L., Bonne, G., Guicheney, P. (2009), Germinal mosaicism for LMNA mimics autosomal recessive congenital muscular dystrophy. Neuromuscular Disorders. 19(1), 26-28. [Abstract]
  • Yanagisawa, A., Bouchet, C., Quijano-Roy, S., Vuillaumier-Barrot, S., Clarke, N., Odent, S., Rodriguez, D., Romero, N., Osawa, M., Endo, T., Taratuto, A., Seta, N., Guicheney, P. (2009), POMT2 intragenic deletions and splicing abnormalities causing congenital muscular dystrophy with mental retardation. European Journal of Medical Genetics. 52(4), 201-206. [Abstract]


  • Quijano-Roy, S., Mbieleu, B., Bönnemann, C., Jeannet, P., Colomer, J., Clarke, N., Cuisset, J., Roper, H., De Meirleir, L., D'Amico, A., Ben Yaou, R., Nascimento, A., Barois, A., Demay, L., Bertini, E., Ferreiro, A., Sewry, C., Romero, N., Ryan, M., Muntoni, F., Guicheney, P., Richard, P., Bonne, G., Estournet, B. (2008), De novo LMNA mutations cause a new form of congenital muscular dystrophy. Annals of Neurology. 64(2), 177-186. [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]
  • Clarke, N. (2008), Skeletal Muscle Disease Due to Mutations in Tropomyosin, Troponin and Cofilin. In: The Sarcomere and Skeletal Muscle Disease. (pp.40-54).United States: Springer.