Associate Professor Nigel Clarke

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

Telephone +61 2 9845 1453
Fax +61 2 9845 3078

Map

Selected grants

2013

  • 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)/Centres of Research Excellence.
  • 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.

2012

  • Advancing the diagnosis and treatment of inherited muscle disorders; Clarke N; National Health and Medical Research Council (NHMRC)/Career Development Fellowship.
  • Approaches to therapy for the skeletal muscle actin diseases; North K, Clarke N; National Health and Medical Research Council (NHMRC)/Project Grants.
  • 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.
  • 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

  • Whole Body Vibration Training for Nemaline Myopathy; Clarke N; A Foundation for Building Strength for Nemaline Myopathy/Project 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.
  • Next generation sequencing platforms; Clarke N; National Health and Medical Research Council (NHMRC)/Equipment Grants.
  • Improving the genetic diagnosis of neuromuscular diseases; Dale R, Christodoulou J, Brilot-Turville F, Yang N, Clarke N, Cooper S; Rebecca L Cooper Medical Research Foundation/Equipment Grant.

2010

  • DHPR subunit binding to a variably spliced region of RyR1: a role in EC coupling and myotonic dystrophy; Dullhunty A, Clarke N; National Health and Medical Research Council (NHMRC)/Project Grants.
  • Determining the pathobiology of human sarcomeric myopathies using zebrafish; Bryson-Richardson R, Clarke N; National Health and Medical Research Council (NHMRC)/Program Grants.

2009

  • UNSPECIFIED; Clarke N; National Health and Medical Research Council (NHMRC)/Program Grants.
  • UNSPECIFIED; Clarke N; A Foundation for Building Strength for Nemaline Myopathy/Project Grant.
  • 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.

2006

  • The Pathogenesis Of Sepni-Related Myopathy And The Identification Of New Genetic Causes Of Congenital Muscular Dystrophy; Clarke N; National Health and Medical Research Council (NHMRC)/International Exchange Fellowships.

Selected publications

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Book Chapters

  • Romero, N., Clarke, N. (2013). Congenital myopathies. In Olivier Dulac, Maryse Lassonde, Harvey B Sarnat (Eds.), Handbook of Clinical Neurology, (pp. 1321-1336). Netherlands: Elsevier.
  • 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.
  • Clarke, N. (2008). Skeletal Muscle Disease Due to Mutations in Tropomyosin, Troponin and Cofilin. In Nigel G. Laing (Eds.), The Sarcomere and Skeletal Muscle Disease, (pp. 40-54). New York: Springer Science + Business Media.

Journals

  • 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]
  • 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]
  • Amburgey, K., Bailey, A., Hwang, J., Tarnopolsky, M., Bonnemann, C., Medne, L., Mathews, K., Collins, J., Daube, J., Wellman, G., Clarke, N., et al (2013). Genotype-phenotype correlations in recessive RYR1-related myopathies. Orphanet Journal of Rare Diseases, 8(1), 1-12. [More Information]
  • Gupta, V., Ravenscroft, G., Shaheen, R., Todd, E., Swanson, L., Shiina, M., Ogata, K., Hsu, C., Clarke, N., Darras, B., Sandaradura, S., et al (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), 1108-1117. [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]
  • Ghaoui, R., Clarke, N., Hollingworth, P., Needham, M. (2013). Muscle disorders: the latest investigations. Internal Medicine Journal, 43(9), 970-978. [More Information]
  • Oates, E., Rossor, A., Hafezparast, M., Gonzalez, M., Speziani, F., MacArthur, D., Lek, M., Cottenie, E., Scoto, M., Foley, A., Menezes, M., Clarke, N., et al (2013). Mutations in BICD2 Cause Dominant Congenital Spinal Muscular Atrophy and Hereditary Spastic Paraplegia. American Journal of Human Genetics, 92(6), 965-973. [More Information]
  • Ravenscroft, G., Miyatake, S., Lehtokari, V., Todd, E., Vornanen, P., Yau, K., Hayashi, Y., Miyake, N., Tsurusaki, Y., Doi, H., Clarke, N., et al (2013). Mutations in KLHL40 Are a Frequent Cause of Severe Autosomal-Recessive Nemaline Myopathy. American Journal of Human Genetics, 93(1), 6-18. [More Information]
  • 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 (online), 91(6), 727-737. [More Information]
  • Romero, N., Sandaradura, S., Clarke, N. (2013). Recent advances in nemaline myopathy. Current Opinion In Neurology, 26(5), 519-526. [More Information]
  • de Winter, J., Buck, D., Hidalgo, C., Jasper, J., Malik, F., Clarke, N., Stienen, G., Lawlor, M., Beggs, A., Ottenheijm, C., et al (2013). Troponin activator augments muscle force in nemaline myopathy patients with nebulin mutations. Journal of Medical Genetics, 50(6), 383-392. [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]
  • 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]
  • 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]
  • Penttila, S., Palmio, J., Suominen, T., Raheem, O., Evila, A., Muelas Gomez, N., Tasca, G., Waddell, L., Clarke, N., Barboi, A., et al (2012). Eight new mutations and the expanding phenotype variability in muscular dystrophy caused by ANO5. Neurology, 78(12), 897-903. [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]
  • 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. [More Information]
  • 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]
  • 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 and Nerve, 46(2), 275-282. [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]
  • Clarke, N. (2011). Congenital fiber-type disproportion. Seminars in Pediatric Neurology, 18(4), 264-271. [More Information]
  • Clarke, N. (2011). Congenital fibre type disproportion - A syndrome at the crossroads of the congenital myopathies. Neuromuscular Disorders, 21(4), 252-253. [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]
  • 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]
  • 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]
  • 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]
  • 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]
  • 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. [More Information]
  • Yanagisawa, A., Bouchet, C., Quijano-Roy, S., Vuillaumier-Barrot, S., Clarke, N., Odent, S., Rodriguez, D., Romero, N., Osawa, M., Endo, T., et al (2009). POMT2 intragenic deletions and splicing abnormalities causing congenital muscular dystrophy with mental retardation. European Journal of Medical Genetics; formerly Annales de Genetique (France) (0003-3995), 52(4), 201-206. [More Information]
  • Quijano-Roy, S., Mbieleu, B., Bonnemann, C., Jeannet, P., Colomer, J., Clarke, N., Cuisset, J., Roper, J., Meirleir, L., D’Amico, A., et al (2008). De novo LMNA mutations cause a new form of congenital muscular dystrophy. Annals of Neurology, 64(2), 177-186. [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]
  • 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]
  • 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.
  • 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.
  • 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]
  • 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]
  • 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.
  • Clarke, N., Mowat, D., Kooy, R., Reyniers, E., Willemsen, R. (2004). Fragile X syndrome phenotype with normal FMR1 gene studies [3]. American Journal of Medical Genetics. Part A, 129 A(3), 326-328. [More Information]
  • Clarke, N., North, K. (2003). Congenital fiber type disproportion - 30 years on. Journal of Neuropathology and Experimental Neurology, 62(10), 977-989.
  • Clarke, N., Andrews, P., Carpenter, K., Jakobs, C., van der Knaap, M., Kirk, E. (2003). D-2-hydroxyglutaric aciduria: A case with an intermediate phenotype and prenatal diagnosis of two affected fetuses. American Journal of Medical Genetics. Part A, 120(4), 523-527.
  • Daniel, A., Baker, E., Chia, N., Haan, E., Malafiej, P., Hinton, L., Clarke, N., Ades, L., Darmanian, A., Callen, D. (2003). Recombinants of intrachromosomal transposition of subtelomeres in chromosomes 1 and 2. A cause of minute terminal chromosomal imbalances. American Journal of Medical Genetics. Part A, 117A (1), 57-64.

Conferences

  • Clarke, N. (2013). Muscle & Nerve - meet the experts; Instructive myopathy cases. 12th International Child Neurology Congress and the 11th Asian and Oceanian Congress of Child Neurology, UK: Wiley-Blackwell Publishing Ltd.
  • Clarke, N. (2013). Structural Myopathies and the Clinical Interface. 3rd International Congress of Myology, France: Institut de Myologie.
  • Clarke, N. (2012). Recent advances in understanding mechanisms of disease in the congenital myopathies. Gage Muslce Conference 2012, Australia: Gage Conferences.
  • Clarke, N. (2010). Abnormal sarcoplasmic reticulum structure and function in skeletal myopathies due to mutations in sarcomeric proteins. Gage Conferences - Muscle, Canberra: Canberra Boys Grammar School.
  • Clarke, N. (2009). RYR1 and small slow-twitch muscle fibres. Indian Ocean Rim Muscle Colloquium, Australia: University of Western Australia.
  • Clarke, N. (2009). The inherited myopathies and the importance of clinical acumen in the genomic age. Royal Australasian College of Physicians Annual Conference. Royal Australasian College of Physicians.

2014

  • 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]

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]
  • Romero, N., Clarke, N. (2013). Congenital myopathies. In Olivier Dulac, Maryse Lassonde, Harvey B Sarnat (Eds.), Handbook of Clinical Neurology, (pp. 1321-1336). Netherlands: Elsevier.
  • Amburgey, K., Bailey, A., Hwang, J., Tarnopolsky, M., Bonnemann, C., Medne, L., Mathews, K., Collins, J., Daube, J., Wellman, G., Clarke, N., et al (2013). Genotype-phenotype correlations in recessive RYR1-related myopathies. Orphanet Journal of Rare Diseases, 8(1), 1-12. [More Information]
  • Gupta, V., Ravenscroft, G., Shaheen, R., Todd, E., Swanson, L., Shiina, M., Ogata, K., Hsu, C., Clarke, N., Darras, B., Sandaradura, S., et al (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), 1108-1117. [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]
  • Clarke, N. (2013). Muscle & Nerve - meet the experts; Instructive myopathy cases. 12th International Child Neurology Congress and the 11th Asian and Oceanian Congress of Child Neurology, UK: Wiley-Blackwell Publishing Ltd.
  • Ghaoui, R., Clarke, N., Hollingworth, P., Needham, M. (2013). Muscle disorders: the latest investigations. Internal Medicine Journal, 43(9), 970-978. [More Information]
  • Oates, E., Rossor, A., Hafezparast, M., Gonzalez, M., Speziani, F., MacArthur, D., Lek, M., Cottenie, E., Scoto, M., Foley, A., Menezes, M., Clarke, N., et al (2013). Mutations in BICD2 Cause Dominant Congenital Spinal Muscular Atrophy and Hereditary Spastic Paraplegia. American Journal of Human Genetics, 92(6), 965-973. [More Information]
  • Ravenscroft, G., Miyatake, S., Lehtokari, V., Todd, E., Vornanen, P., Yau, K., Hayashi, Y., Miyake, N., Tsurusaki, Y., Doi, H., Clarke, N., et al (2013). Mutations in KLHL40 Are a Frequent Cause of Severe Autosomal-Recessive Nemaline Myopathy. American Journal of Human Genetics, 93(1), 6-18. [More Information]
  • 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 (online), 91(6), 727-737. [More Information]
  • Romero, N., Sandaradura, S., Clarke, N. (2013). Recent advances in nemaline myopathy. Current Opinion In Neurology, 26(5), 519-526. [More Information]
  • Clarke, N. (2013). Structural Myopathies and the Clinical Interface. 3rd International Congress of Myology, France: Institut de Myologie.
  • de Winter, J., Buck, D., Hidalgo, C., Jasper, J., Malik, F., Clarke, N., Stienen, G., Lawlor, M., Beggs, A., Ottenheijm, C., et al (2013). Troponin activator augments muscle force in nemaline myopathy patients with nebulin mutations. Journal of Medical Genetics, 50(6), 383-392. [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

  • 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]
  • 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.
  • Penttila, S., Palmio, J., Suominen, T., Raheem, O., Evila, A., Muelas Gomez, N., Tasca, G., Waddell, L., Clarke, N., Barboi, A., et al (2012). Eight new mutations and the expanding phenotype variability in muscular dystrophy caused by ANO5. Neurology, 78(12), 897-903. [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]
  • 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. [More Information]
  • 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]
  • 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 and Nerve, 46(2), 275-282. [More Information]
  • Clarke, N. (2012). Recent advances in understanding mechanisms of disease in the congenital myopathies. Gage Muslce Conference 2012, Australia: Gage Conferences.

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

2010

  • Clarke, N. (2010). Abnormal sarcoplasmic reticulum structure and function in skeletal myopathies due to mutations in sarcomeric proteins. Gage Conferences - Muscle, Canberra: Canberra Boys Grammar School.
  • 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]
  • 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]

2009

  • 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]
  • 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. [More Information]
  • Yanagisawa, A., Bouchet, C., Quijano-Roy, S., Vuillaumier-Barrot, S., Clarke, N., Odent, S., Rodriguez, D., Romero, N., Osawa, M., Endo, T., et al (2009). POMT2 intragenic deletions and splicing abnormalities causing congenital muscular dystrophy with mental retardation. European Journal of Medical Genetics; formerly Annales de Genetique (France) (0003-3995), 52(4), 201-206. [More Information]
  • Clarke, N. (2009). RYR1 and small slow-twitch muscle fibres. Indian Ocean Rim Muscle Colloquium, Australia: University of Western Australia.
  • Clarke, N. (2009). The inherited myopathies and the importance of clinical acumen in the genomic age. Royal Australasian College of Physicians Annual Conference. Royal Australasian College of Physicians.

2008

  • Quijano-Roy, S., Mbieleu, B., Bonnemann, C., Jeannet, P., Colomer, J., Clarke, N., Cuisset, J., Roper, J., Meirleir, L., D’Amico, A., et al (2008). De novo LMNA mutations cause a new form of congenital muscular dystrophy. Annals of Neurology, 64(2), 177-186. [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]
  • Clarke, N. (2008). Skeletal Muscle Disease Due to Mutations in Tropomyosin, Troponin and Cofilin. In Nigel G. Laing (Eds.), The Sarcomere and Skeletal Muscle Disease, (pp. 40-54). New York: Springer Science + Business Media.

2007

  • 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]

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.
  • 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.
  • 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]

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]

2004

  • 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.
  • Clarke, N., Mowat, D., Kooy, R., Reyniers, E., Willemsen, R. (2004). Fragile X syndrome phenotype with normal FMR1 gene studies [3]. American Journal of Medical Genetics. Part A, 129 A(3), 326-328. [More Information]

2003

  • Clarke, N., North, K. (2003). Congenital fiber type disproportion - 30 years on. Journal of Neuropathology and Experimental Neurology, 62(10), 977-989.
  • Clarke, N., Andrews, P., Carpenter, K., Jakobs, C., van der Knaap, M., Kirk, E. (2003). D-2-hydroxyglutaric aciduria: A case with an intermediate phenotype and prenatal diagnosis of two affected fetuses. American Journal of Medical Genetics. Part A, 120(4), 523-527.
  • Daniel, A., Baker, E., Chia, N., Haan, E., Malafiej, P., Hinton, L., Clarke, N., Ades, L., Darmanian, A., Callen, D. (2003). Recombinants of intrachromosomal transposition of subtelomeres in chromosomes 1 and 2. A cause of minute terminal chromosomal imbalances. American Journal of Medical Genetics. Part A, 117A (1), 57-64.

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