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Dr Nigel Clarke

NHMRC Career Development Fellow
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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Themes | Grants | Keywords | Publications

 

Current national competitive grants*

2012

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

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Keywords

Neurosciences; Musculoskeletal diseases; Molecular biology; Genetic diseases; Genetic processes

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Publications

2012 | 2011 | 2010 | 2009 | 2008 | 2007

2012

   
  • 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.

2011

   
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  • 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]

2010

   
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  • 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]

2009

   
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  • 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]
  • 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]
  • 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]

2008

   
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  • 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.

2007

   
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  • 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), 552-61. [Abstract]