Research Topics
Genomes and GenesSpecies | Nigel F ClarkeSummaryAffiliation: The Children's Hospital at Westmead Country: Australia Publications
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Publications
Importance and challenge of making an early diagnosis in LMNA-related muscular dystrophyM P Menezes
Institute for Neuroscience and Muscle Research, Children s Hospital at Westmead, Sydney, Australia
Neurology 78:1258-63. 2012..To identify the most useful clinical and histologic markers that facilitate early diagnosis in LMNA-related muscular dystrophy and to assess the usefulness of Western blotting (WB) for lamin A/C...
Skeletal muscle disease due to mutations in tropomyosin, troponin and cofilinNigel 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....- Recessive mutations in RYR1 are a common cause of congenital fiber type disproportionNigel 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... - Expanding the clinical, pathological and MRI phenotype of DNM2-related centronuclear myopathyRachel 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... - 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... - A study of FHL1, BAG3, MATR3, PTRF and TCAP in Australian muscular dystrophy patientsLeigh 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... - Evidence for a dominant negative disease mechanism in cap myopathy due to TPM3Leigh 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... - SEPN1: associated with congenital fiber-type disproportion and insulin resistanceNigel F Clarke
Institute for Neuromuscular Research, Children s Hospital at Westmead, Discipline of Paediatrics and Child Health, University of Sydney, Sydney, Australia
Ann Neurol 59:546-52. 2006..Second, we investigated an association between SEPN1-related myopathy and insulin resistance... - K7del is a common TPM2 gene mutation associated with nemaline myopathy and raised myofibre calcium sensitivityNancy 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... - Mutations in TPM2 and congenital fibre type disproportionNigel F Clarke
Institute for Neuroscience and Muscle Research, Children s Hospital at Westmead, Sydney, Australia Discipline of Paediatrics and Child Health, University of Sydney, Sydney, Australia Electronic address
Neuromuscul Disord 22:955-8. 2012.... - Autosomal dominant congenital spinal muscular atrophy: a true form of spinal muscular atrophy caused by early loss of anterior horn cellsEmily 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... - Using complementary DNA from MyoD-transduced fibroblasts to sequence large muscle genesLeigh 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... - Mutations in TPM3 are a common cause of congenital fiber type disproportionNigel F Clarke
Institute for Neuromuscular Research, Children s Hospital at Westmead, Discipline of Paediatrics and Child Health, University of Sydney, Sydney, Australia
Ann Neurol 63:329-37. 2008..The gene encoding alpha-tropomyosin(slow) (TPM3) is a rare cause of nemaline myopathy, previously reported in only five families. We investigated whether mutation of TPM3 is a cause of CFTD... - Dysferlin, annexin A1, and mitsugumin 53 are upregulated in muscular dystrophy and localize to longitudinal tubules of the T-system with stretchLeigh 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... - Mapping domains and mutations on the skeletal muscle ryanodine receptor channelJean 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... - Young Australian adults with NF1 have poor access to health care, high complication rates, and limited disease knowledgeEmily 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... - The pathogenesis of ACTA1-related congenital fiber type disproportionNigel F Clarke
Institute for Neuromuscular Research, Children s Hospital at Westmead, Discipline of Paediatrics and Child Health, University of Sydney, New South Wales, Australia
Ann Neurol 61:552-61. 2007..We have investigated the basis for the histological differences between these CFTD patients and patients with ACTA1 nemaline myopathy (NM)... - A novel X-linked form of congenital fiber-type disproportionNigel F Clarke
Institute for Neuromuscular Research, Children's Hospital at Westmead, Discipline of Paediatrics and Child Health, University of Sydney, Sydney, Australia
Ann Neurol 58:767-72. 2005..25 in the latter region. We propose that clinical clues can differentiate this disorder from other forms of congenital fiber-type disproportion so that affected families can receive appropriate genetic counseling...