Nigel F Clarke

Summary

Affiliation: New South Wales
Country: Australia

Publications

  1. doi request reprint Germinal mosaicism for LMNA mimics autosomal recessive congenital muscular dystrophy
    Samira Makri
    Etablissement Hospitalier Spécialisé Ali Ait Idir, Alger, Algeria
    Neuromuscul Disord 19:26-8. 2009
  2. pmc Genotype-phenotype correlations in recessive RYR1-related myopathies
    Kimberly Amburgey
    Department of Pediatrics, Taubman Medical Research Institute, University of Michigan Medical Center, 5019 A, Alfred Taubman Biomedical Science Research Building, 109 Zina Pitcher Place, Ann Arbor, MI 48109 2200, USA
    Orphanet J Rare Dis 8:117. 2013
  3. doi request reprint Mutations in TPM2 and congenital fibre type disproportion
    Nigel F Clarke
    Institute for Neuroscience and Muscle Research, Children s Hospital at Westmead, Sydney, Australia
    Neuromuscul Disord 22:955-8. 2012
  4. doi request reprint Congenital fiber-type disproportion
    Nigel F Clarke
    Institute of Neuroscience and Muscle Research, Children s Hospital at Westmead, Discipline of Paediatrics and Child Health, University of Sydney, Westmead, New South Wales, Australia
    Semin Pediatr Neurol 18:264-71. 2011
  5. doi request reprint Evidence for a dominant negative disease mechanism in cap myopathy due to TPM3
    Leigh B Waddell
    Institute for Neuroscience and Muscle Research, The Children s Hospital at Westmead, Sydney, Australia
    Neuromuscul Disord 20:464-6. 2010
  6. doi request reprint A study of FHL1, BAG3, MATR3, PTRF and TCAP in Australian muscular dystrophy patients
    Leigh B Waddell
    Institute for Neuroscience and Muscle Research, Children s Hospital at Westmead, Discipline of Paediatrics and Child Health, University of Sydney, Sydney, Australia
    Neuromuscul Disord 21:776-81. 2011
  7. pmc Mutations in BICD2 cause dominant congenital spinal muscular atrophy and hereditary spastic paraplegia
    Emily C Oates
    Institute for Neuroscience and Muscle Research, Children s Hospital at Westmead, Westmead, Sydney, NSW 2145, Australia Discipline of Paediatrics and Child Health, Faculty of Medicine, The University of Sydney, Sydney, NSW 2006, Australia
    Am J Hum Genet 92:965-73. 2013
  8. ncbi request reprint A novel mutation expands the genetic and clinical spectrum of MYH7-related myopathies
    Nigel F Clarke
    INMR, The Children s Hospital at Westmead and Discipline of Paediatrics and Child Health, University of Sydney, Sydney, Australia
    Neuromuscul Disord 23:432-6. 2013
  9. doi request reprint Cap disease due to mutation of the beta-tropomyosin gene (TPM2)
    Nigel F Clarke
    Institute for Neuromuscular Research, Children s Hospital at Westmead, Discipline of Paediatrics and Child Health, University of Sydney, Westmead, NSW, Australia
    Neuromuscul Disord 19:348-51. 2009
  10. doi request reprint Recessive mutations in RYR1 are a common cause of congenital fiber type disproportion
    Nigel F Clarke
    Institute for Neuroscience and Muscle Research, Children s Hospital at Westmead, Sydney, Australia
    Hum Mutat 31:E1544-50. 2010

Collaborators

Detail Information

Publications20

  1. doi request reprint Germinal mosaicism for LMNA mimics autosomal recessive congenital muscular dystrophy
    Samira Makri
    Etablissement Hospitalier Spécialisé Ali Ait Idir, Alger, Algeria
    Neuromuscul Disord 19:26-8. 2009
    ..This emphasises that germinal mosaicism (and de novo mutations) for LMNA can arise in any family and direct gene sequencing is required to confirm or exclude the diagnosis...
  2. pmc Genotype-phenotype correlations in recessive RYR1-related myopathies
    Kimberly Amburgey
    Department of Pediatrics, Taubman Medical Research Institute, University of Michigan Medical Center, 5019 A, Alfred Taubman Biomedical Science Research Building, 109 Zina Pitcher Place, Ann Arbor, MI 48109 2200, USA
    Orphanet J Rare Dis 8:117. 2013
    ..To date, no clear patterns have been identified in these recessive mutations, though no systematic examination has yet been performed...
  3. doi request reprint Mutations in TPM2 and congenital fibre type disproportion
    Nigel F Clarke
    Institute for Neuroscience and Muscle Research, Children s Hospital at Westmead, Sydney, Australia
    Neuromuscul Disord 22:955-8. 2012
    ....
  4. doi request reprint Congenital fiber-type disproportion
    Nigel F Clarke
    Institute of Neuroscience and Muscle Research, Children s Hospital at Westmead, Discipline of Paediatrics and Child Health, University of Sydney, Westmead, New South Wales, Australia
    Semin Pediatr Neurol 18:264-71. 2011
    ..Many of the genetic causes have been identified. Careful surveillance of respiratory function is required in all patients until the specific genetic cause is known and advice can be individualized...
  5. doi request reprint Evidence for a dominant negative disease mechanism in cap myopathy due to TPM3
    Leigh B Waddell
    Institute for Neuroscience and Muscle Research, The Children s Hospital at Westmead, Sydney, Australia
    Neuromuscul Disord 20:464-6. 2010
    ..R168C mutation and show that mutant protein accounts for around 50% of alpha-tropomyosin(slow) in sarcomeres, consistent with a dominant negative mechanism of disease pathogenesis...
  6. doi request reprint A study of FHL1, BAG3, MATR3, PTRF and TCAP in Australian muscular dystrophy patients
    Leigh B Waddell
    Institute for Neuroscience and Muscle Research, Children s Hospital at Westmead, Discipline of Paediatrics and Child Health, University of Sydney, Sydney, Australia
    Neuromuscul Disord 21:776-81. 2011
    ..In conclusion, we have excluded these five genes as common causes of muscular dystrophy in Australia. Patients with reducing body myopathy may be initially diagnosed as muscular dystrophy...
  7. pmc Mutations in BICD2 cause dominant congenital spinal muscular atrophy and hereditary spastic paraplegia
    Emily C Oates
    Institute for Neuroscience and Muscle Research, Children s Hospital at Westmead, Westmead, Sydney, NSW 2145, Australia Discipline of Paediatrics and Child Health, Faculty of Medicine, The University of Sydney, Sydney, NSW 2006, Australia
    Am J Hum Genet 92:965-73. 2013
    ....
  8. ncbi request reprint A novel mutation expands the genetic and clinical spectrum of MYH7-related myopathies
    Nigel F Clarke
    INMR, The Children s Hospital at Westmead and Discipline of Paediatrics and Child Health, University of Sydney, Sydney, Australia
    Neuromuscul Disord 23:432-6. 2013
    ....
  9. doi request reprint Cap disease due to mutation of the beta-tropomyosin gene (TPM2)
    Nigel F Clarke
    Institute for Neuromuscular Research, Children s Hospital at Westmead, Discipline of Paediatrics and Child Health, University of Sydney, Westmead, NSW, Australia
    Neuromuscul Disord 19:348-51. 2009
    ..E139del). 2D-gel electrophoresis studies show that the shortened mutant protein incorporates into sarcomeric structures, where it likely imposes a dominant-negative effect to cause muscle weakness...
  10. doi request reprint Recessive mutations in RYR1 are a common cause of congenital fiber type disproportion
    Nigel F Clarke
    Institute for Neuroscience and Muscle Research, Children s Hospital at Westmead, Sydney, Australia
    Hum Mutat 31:E1544-50. 2010
    ..Type 1 fibers were at least 50% smaller, on average, than type 2 fibers in all biopsies. Recessive mutations in RYR1 are a relatively common cause of CFTD and can be associated with extreme fiber size disproportion...
  11. doi request reprint Expanding the clinical, pathological and MRI phenotype of DNM2-related centronuclear myopathy
    Rachel D Susman
    The Institute for Neuroscience and Muscle Research, The Children s Hospital at Westmead, Westmead, 2145, Sydney, NSW, Australia
    Neuromuscul Disord 20:229-37. 2010
    ..Missense mutations in the C-terminal region of the PH domain appear to be associated with a more severe clinical phenotype evident from infancy...
  12. ncbi request reprint K7del is a common TPM2 gene mutation associated with nemaline myopathy and raised myofibre calcium sensitivity
    Nancy Mokbel
    Institute for Neuroscience and Muscle Research, Children s Hospital at Westmead, Sydney, NSW 2145, Australia
    Brain 136:494-507. 2013
    ..These results suggest that patients may benefit from therapies that reduce skeletal muscle calcium sensitivity, and we highlight late muscle decompensation as an important cause of morbidity...
  13. doi request reprint Using complementary DNA from MyoD-transduced fibroblasts to sequence large muscle genes
    Leigh B Waddell
    Institute for Neuroscience and Muscle Research, Discipline of Paediatrics and Child Health, Children s Hospital at Westmead, University of Sydney, Locked Bag 4001, Westmead, New South Wales 2145, Australia
    Muscle Nerve 44:280-2. 2011
    ..We present patient examples showing that use of MyoD-transduced fibroblasts as a source of muscle-specific mRNA overcomes these potential difficulties in sequencing large muscle-related genes...
  14. doi request reprint Autosomal dominant congenital spinal muscular atrophy: a true form of spinal muscular atrophy caused by early loss of anterior horn cells
    Emily C Oates
    Institute for Neuroscience and Muscle Research, Children s Hospital at Westmead, Locked Bag 4001, Westmead, New South Wales, 2145, Australia
    Brain 135:1714-23. 2012
    ..These findings confirm that dominant congenital spinal muscular atrophy is a true form of spinal muscular atrophy caused by a loss of anterior horn cells localized to lumbar and cervical regions early in development...
  15. ncbi request reprint Skeletal muscle disease due to mutations in tropomyosin, troponin and cofilin
    Nigel F Clarke
    Institute for Neuromuscular Research, Children s Hospital at Westmead, Discipline of Pediatrics and Child Health, University of Sydney, Sydney, Australia
    Adv Exp Med Biol 642:40-54. 2008
    ....
  16. ncbi request reprint Whole exome sequencing identifies three recessive FIG4 mutations in an apparently dominant pedigree with Charcot-Marie-Tooth disease
    Manoj P Menezes
    Institute for Neuroscience and Muscle Research, The Children s Hospital at Westmead, Sydney, Australia Discipline of Paediatrics and Child Health, The University of Sydney, Sydney, Australia Electronic address
    Neuromuscul Disord 24:666-70. 2014
    ..It also emphasises the advantages of next-generation sequencing approaches that screen multiple CMT genes at once for patients in whom the common genes have been excluded. ..
  17. doi request reprint Mapping domains and mutations on the skeletal muscle ryanodine receptor channel
    Jean H Hwang
    Institute for Neuroscience and Muscle Research, Children s Hospital at Westmead, Sydney, 2145, Australia
    Trends Mol Med 18:644-57. 2012
    ..A thorough understanding of the ryanodine receptor macromolecular complex and its interactions with proteins and small molecular modulators is an essential starting point from which to investigate disease mechanisms...
  18. doi request reprint Neuromuscular junction abnormalities in DNM2-related centronuclear myopathy
    Elizabeth M Gibbs
    Department of Neurology, Taubman Medical Research Institute, University of Michigan Medical Center, BSRB 5017, 109 Zina Pitcher Place, Ann Arbor, MI 48109 2200, USA
    J Mol Med (Berl) 91:727-37. 2013
    ....
  19. doi request reprint Young Australian adults with NF1 have poor access to health care, high complication rates, and limited disease knowledge
    Emily C Oates
    Institute for Neuroscience and Muscle Research, The Children s Hospital at Westmead, Sydney, Australia
    Am J Med Genet A 161:659-66. 2013
    ..Access to multidisciplinary adult clinics that specialize in NF1 may address many of the unmet health needs of young adults with NF1...
  20. doi request reprint Dysferlin, annexin A1, and mitsugumin 53 are upregulated in muscular dystrophy and localize to longitudinal tubules of the T-system with stretch
    Leigh B Waddell
    Institute for Neuroscience and Muscle Research, The Children s Hospital at Westmead, Discipline of Paediatrics and Child Health, University of Sydney, Sydney, Australia
    J Neuropathol Exp Neurol 70:302-13. 2011
    ..Our results suggest that longitudinal tubules of the t-system may represent sites of physiological membrane damage targeted by this membrane repair complex...