Nigel F Clarke

Nigel F Clarke

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Nigel F Clarke

Nigel F Clarke

Publications by authors named "Nigel F Clarke"

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Congenital Titinopathy: Comprehensive characterization and pathogenic insights.

Ann Neurol 2018 06;83(6):1105-1124

Harry Perkins Institute, University of Western Australia, Nedlands, Western Australia, Australia.

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http://dx.doi.org/10.1002/ana.25241DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6105519PMC
June 2018

A 'limb-girdle muscular dystrophy' responsive to asthma therapy.

Pract Neurol 2017 Aug 22;17(4):327-331. Epub 2017 Apr 22.

Department of Neurology, Auckland City Hospital, Auckland, New Zealand.

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http://dx.doi.org/10.1136/practneurol-2017-001598DOI Listing
August 2017

Variants in SLC18A3, vesicular acetylcholine transporter, cause congenital myasthenic syndrome.

Neurology 2016 Oct 2;87(14):1442-1448. Epub 2016 Sep 2.

From the Institute for Neuroscience and Muscle Research (G.L.O., M.Y., N.P., H.A.B., T.B.D., K.N.N., N.F.C., S.T.C.), Kids Research Institute, T.Y. Department of Neurology (M.M., R.W.), and Heart Centre for Children (C.T.), Children's Hospital at Westmead, Sydney; Discipline of Paediatrics and Child Health (G.L.O., M.M., H.A.B., K.N.N., N.F.C., S.T.C.), Faculty of Medicine, University of Sydney, Australia; Departments of Genetics (C.V.) and Child Neurology (J.M.F.), University of Groningen University Medical Center Groningen, the Netherlands; Analytic and Translational Genetics Unit (M.L., D.G.M.), Massachusetts General Hospital, Boston; Broad Institute of Harvard and Massachusetts Institute of Technology (M.L., D.G.M.), Cambridge; Department of Neurology (A.G.E.), Mayo Clinic, Rochester, MN; Murdoch Children's Research Institute (K.N.N.), Royal Children's Hospital, Victoria, Australia; and Department of Human Genetics (E.-J.K.), Radboud University Medical Center, Nijmegen, the Netherlands.

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http://dx.doi.org/10.1212/WNL.0000000000003179DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5075972PMC
October 2016

Prominent scapulae mimicking an inherited myopathy expands the phenotype of CHD7-related disease.

Eur J Hum Genet 2016 08 27;24(8):1216-9. Epub 2016 Jan 27.

Institute for Neuroscience and Muscle Research, Kids Research Institute, The Children's Hospital at Westmead, Sydney, New South Wales, Australia.

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http://dx.doi.org/10.1038/ejhg.2015.276DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4970689PMC
August 2016

TOR1AIP1 as a cause of cardiac failure and recessive limb-girdle muscular dystrophy.

Neuromuscul Disord 2016 08 24;26(8):500-3. Epub 2016 May 24.

Institute for Neuroscience and Muscle Research, Kid's Research Institute, Children's Hospital at Westmead, Sydney, NSW 2145, Australia; Discipline of Paediatrics and Child Health, Sydney Medical School, University of Sydney, NSW 2006, Australia. Electronic address:

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http://dx.doi.org/10.1016/j.nmd.2016.05.013DOI Listing
August 2016

Diagnosis and etiology of congenital muscular dystrophy: We are halfway there.

Ann Neurol 2016 07 25;80(1):101-11. Epub 2016 May 25.

Institute for Neuroscience and Muscle Research, Kids Research Institute, Children's Hospital at Westmead, Westmead, New South Wales, Australia.

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http://dx.doi.org/10.1002/ana.24687DOI Listing
July 2016

Use of Whole-Exome Sequencing for Diagnosis of Limb-Girdle Muscular Dystrophy: Outcomes and Lessons Learned.

JAMA Neurol 2015 Dec;72(12):1424-32

Institute for Neuroscience and Muscle Research, Kid's Research Institute, Children's Hospital at Westmead, Sydney, New South Wales, Australia2Discipline of Paediatrics and Child Health, Sydney Medical School, University of Sydney, Sydney, New South Wales.

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http://dx.doi.org/10.1001/jamaneurol.2015.2274DOI Listing
December 2015

Reply: The p.Ser107Leu in BICD2 is a mutation 'hot spot' causing distal spinal muscular atrophy.

Brain 2015 Nov 10;138(Pt 11):e392. Epub 2015 Jun 10.

2 Institute for Neuroscience and Muscle Research, Children's Hospital at Westmead, New South Wales, 2145, Australia 3 Discipline of Paediatrics and Child Health, Faculty of Medicine, The University of Sydney, Sydney, New South Wales, 2006, Australia 24 Murdoch Children's Research Institute. The Royal Children's Hospital. Parkville Victoria 3052 Australia 25 Department of Paediatrics, University of Melbourne Parkville Victoria 3010 Australia.

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http://dx.doi.org/10.1093/brain/awv160DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4719680PMC
November 2015

Muscle weakness in TPM3-myopathy is due to reduced Ca2+-sensitivity and impaired acto-myosin cross-bridge cycling in slow fibres.

Hum Mol Genet 2015 Nov 24;24(22):6278-92. Epub 2015 Aug 24.

Institute for Neuroscience and Muscle Research, The Children's Hospital at Westmead, Westmead, Australia, Discipline of Paediatrics and Child Health, University of Sydney, Sydney, Australia.

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http://dx.doi.org/10.1093/hmg/ddv334DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4614700PMC
November 2015

Recessive ACTA1 variant causes congenital muscular dystrophy with rigid spine.

Eur J Hum Genet 2015 Jun 3;23(6):883-6. Epub 2014 Sep 3.

1] Institute for Neuroscience and Muscle Research, Children's Hospital at Westmead, Sydney, New South Wales, Australia [2] Discipline of Paediatrics and Child Health, Sydney Medical School, University of Sydney, Sydney, New South Wales, Australia.

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http://dx.doi.org/10.1038/ejhg.2014.169DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4795062PMC
June 2015

Effect of levosimendan on the contractility of muscle fibers from nemaline myopathy patients with mutations in the nebulin gene.

Skelet Muscle 2015 28;5:12. Epub 2015 Apr 28.

Department of Physiology, Institute for Cardiovascular Research, VU University Medical Center Amsterdam, De Boelelaan 1118, 1081, BT Amsterdam, The Netherlands ; Department of Cellular and Molecular Medicine, University of Arizona, 1333 N. Martin Avenue, Tucson, USA.

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http://arizona.openrepository.com/arizona/bitstream/10150/61
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http://link.springer.com/content/pdf/10.1186%2Fs13395-015-00
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http://www.skeletalmusclejournal.com/content/5/1/12
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http://dx.doi.org/10.1186/s13395-015-0037-7DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4422316PMC
May 2015

Response.

Neuromuscul Disord 2015 Apr 29;25(4):360. Epub 2014 Dec 29.

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http://dx.doi.org/10.1016/j.nmd.2014.12.008DOI Listing
April 2015

Phenotypic and molecular insights into spinal muscular atrophy due to mutations in BICD2.

Brain 2015 Feb 14;138(Pt 2):293-310. Epub 2014 Dec 14.

2 Institute for Neuroscience and Muscle Research, Children's Hospital at Westmead, New South Wales, 2145, Australia 3 Discipline of Paediatrics and Child Health, Faculty of Medicine, The University of Sydney, Sydney, New South Wales, 2006, Australia 24 Murdoch Children's Research Institute. The Royal Children's Hospital, Parkville Victoria 3052 Australia 25 Department of Paediatrics, University of Melbourne Parkville Victoria 3010 Australia.

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http://dx.doi.org/10.1093/brain/awu356DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4306822PMC
February 2015

Endogenous glucuronyltransferase activity of LARGE or LARGE2 required for functional modification of α-dystroglycan in cells and tissues.

J Biol Chem 2014 Oct 19;289(41):28138-48. Epub 2014 Aug 19.

From the Howard Hughes Medical Institute, Department of Molecular Physiology and Biophysics, Department of Neurology, Department of Internal Medicine, University of Iowa Roy J. and Lucille A. Carver College of Medicine, Iowa City, Iowa 52242-1101,

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http://dx.doi.org/10.1074/jbc.M114.597831DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4192470PMC
October 2014

Whole exome sequencing identifies three recessive FIG4 mutations in an apparently dominant pedigree with Charcot-Marie-Tooth disease.

Neuromuscul Disord 2014 Aug 4;24(8):666-70. Epub 2014 May 4.

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.

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http://dx.doi.org/10.1016/j.nmd.2014.04.010DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4096049PMC
August 2014

Congenital myopathies.

Handb Clin Neurol 2013 ;113:1321-36

Morphology Neuromuscular Unit of the Myology Institute, GHU Pitié-Salpêtrière, Paris, France. Electronic address:

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http://dx.doi.org/10.1016/B978-0-444-59565-2.00004-6DOI Listing
March 2014

Recent advances in nemaline myopathy.

Curr Opin Neurol 2013 Oct;26(5):519-26

Institut de Myologie, Groupe Hospitalier-Universitaire La Pitié-Salpêtrière, AP-HP, UPMC-Paris6 UR76, INSERM UMR974, CNRS UMR 7215, Paris, France.

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http://dx.doi.org/10.1097/WCO.0b013e328364d681DOI Listing
October 2013

Genotype-phenotype correlations in recessive RYR1-related myopathies.

Orphanet J Rare Dis 2013 Aug 6;8:117. Epub 2013 Aug 6.

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.

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http://dx.doi.org/10.1186/1750-1172-8-117DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3751094PMC
August 2013

Neuromuscular junction abnormalities in DNM2-related centronuclear myopathy.

J Mol Med (Berl) 2013 Jun 22;91(6):727-37. Epub 2013 Jan 22.

Department of Neurology, Taubman Medical Research Institute, University of Michigan Medical Center, BSRB 5017, 109 Zina Pitcher Place, Ann Arbor, MI 48109-2200, USA.

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http://dx.doi.org/10.1007/s00109-013-0994-4DOI Listing
June 2013

Troponin activator augments muscle force in nemaline myopathy patients with nebulin mutations.

J Med Genet 2013 Jun 9;50(6):383-92. Epub 2013 Apr 9.

Department of Physiology, Institute for Cardiovascular Research, VU University Medical Center, Amsterdam, The Netherlands.

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http://dx.doi.org/10.1136/jmedgenet-2012-101470DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3865762PMC
June 2013

Young Australian adults with NF1 have poor access to health care, high complication rates, and limited disease knowledge.

Am J Med Genet A 2013 Apr 20;161A(4):659-66. Epub 2013 Feb 20.

Institute for Neuroscience and Muscle Research, The Children's Hospital at Westmead, Sydney, Australia.

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http://dx.doi.org/10.1002/ajmg.a.35840DOI Listing
April 2013

Mutations in TPM2 and congenital fibre type disproportion.

Neuromuscul Disord 2012 Nov 24;22(11):955-8. Epub 2012 Jul 24.

Institute for Neuroscience and Muscle Research, Children's Hospital at Westmead, Sydney, Australia.

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http://dx.doi.org/10.1016/j.nmd.2012.06.002DOI Listing
November 2012

Mapping domains and mutations on the skeletal muscle ryanodine receptor channel.

Trends Mol Med 2012 Nov 12;18(11):644-57. Epub 2012 Oct 12.

Institute for Neuroscience and Muscle Research, Children's Hospital at Westmead, Sydney, 2145, Australia.

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http://dx.doi.org/10.1016/j.molmed.2012.09.006DOI Listing
November 2012

Autosomal dominant congenital spinal muscular atrophy: a true form of spinal muscular atrophy caused by early loss of anterior horn cells.

Brain 2012 Jun;135(Pt 6):1714-23

Institute for Neuroscience and Muscle Research, Children's Hospital at Westmead, Locked Bag 4001, Westmead, New South Wales, 2145, Australia.

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http://dx.doi.org/10.1093/brain/aws108DOI Listing
June 2012

Congenital fiber-type disproportion.

Authors:
Nigel F Clarke

Semin Pediatr Neurol 2011 Dec;18(4):264-71

Institute of Neuroscience and Muscle Research, Children's Hospital at Westmead, Discipline of Paediatrics & Child Health, University of Sydney, Westmead, New South Wales, Australia.

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http://dx.doi.org/10.1016/j.spen.2011.10.008DOI Listing
December 2011

A study of FHL1, BAG3, MATR3, PTRF and TCAP in Australian muscular dystrophy patients.

Neuromuscul Disord 2011 Nov 17;21(11):776-81. Epub 2011 Jun 17.

Institute for Neuroscience and Muscle Research, Children's Hospital at Westmead, Discipline of Paediatrics and Child Health, University of Sydney, Sydney, Australia.

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http://dx.doi.org/10.1016/j.nmd.2011.05.007DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5210217PMC
November 2011

Using complementary DNA from MyoD-transduced fibroblasts to sequence large muscle genes.

Muscle Nerve 2011 Aug;44(2):280-2

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.

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http://doi.wiley.com/10.1002/mus.22118
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http://dx.doi.org/10.1002/mus.22118DOI Listing
August 2011

Congenital fibre type disproportion--a syndrome at the crossroads of the congenital myopathies.

Authors:
Nigel F Clarke

Neuromuscul Disord 2011 Apr;21(4):252-3

Institute for Neuroscience and Muscle Research, Children's Hospital at Westmead, Australia.

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http://dx.doi.org/10.1016/j.nmd.2011.02.015DOI Listing
April 2011

Evidence for a dominant negative disease mechanism in cap myopathy due to TPM3.

Neuromuscul Disord 2010 Jul 15;20(7):464-6. Epub 2010 Jun 15.

Institute for Neuroscience and Muscle Research, The Children's Hospital at Westmead, Sydney, Australia.

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https://linkinghub.elsevier.com/retrieve/pii/S09608966100023
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http://dx.doi.org/10.1016/j.nmd.2010.05.012DOI Listing
July 2010

Cap disease due to mutation of the beta-tropomyosin gene (TPM2).

Neuromuscul Disord 2009 May 3;19(5):348-51. Epub 2009 Apr 3.

Institute for Neuromuscular Research, Children's Hospital at Westmead, Discipline of Paediatrics and Child Health, University of Sydney, Westmead, NSW, Australia.

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http://dx.doi.org/10.1016/j.nmd.2009.03.003DOI Listing
May 2009

Skeletal muscle disease due to mutations in tropomyosin, troponin and cofilin.

Authors:
Nigel F Clarke

Adv Exp Med Biol 2008 ;642:40-54

Institute for Neuromuscular Research, Children's Hospital at Westmead, Discipline of Pediatrics and Child Health, University of Sydney, Sydney, Australia.

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http://dx.doi.org/10.1007/978-0-387-84847-1_4DOI Listing
February 2009

Germinal mosaicism for LMNA mimics autosomal recessive congenital muscular dystrophy.

Neuromuscul Disord 2009 Jan 11;19(1):26-8. Epub 2008 Dec 11.

Etablissement Hospitalier Spécialisé Ali Ait Idir, Alger, Algeria.

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http://dx.doi.org/10.1016/j.nmd.2008.09.016DOI Listing
January 2009

De novo LMNA mutations cause a new form of congenital muscular dystrophy.

Ann Neurol 2008 Aug;64(2):177-86

Assistance Publique-Hôpitaux de Paris, Service de Pédiatrie, Hôpital Universitaire Raymond Poincaré, Centre National de Référence des Maladies Neuromusculaires Garches-Necker-Mondor-Hendaye, Garches, France.

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http://dx.doi.org/10.1002/ana.21417DOI Listing
August 2008

Mutations in TPM3 are a common cause of congenital fiber type disproportion.

Ann Neurol 2008 Mar;63(3):329-37

Institute for Neuromuscular Research, Children's Hospital at Westmead, Discipline of Paediatrics and Child Health, University of Sydney, Sydney, Australia.

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http://dx.doi.org/10.1002/ana.21308DOI Listing
March 2008

The pathogenesis of ACTA1-related congenital fiber type disproportion.

Ann Neurol 2007 Jun;61(6):552-61

Institute for Neuromuscular Research, Children's Hospital at Westmead, Discipline of Paediatrics and Child Health, University of Sydney, New South Wales, Australia.

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http://dx.doi.org/10.1002/ana.21112DOI Listing
June 2007

SEPN1: associated with congenital fiber-type disproportion and insulin resistance.

Ann Neurol 2006 Mar;59(3):546-52

Institute for Neuromuscular Research, Children's Hospital at Westmead, Discipline of Paediatrics and Child Health, University of Sydney, Sydney, Australia.

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http://doi.wiley.com/10.1002/ana.20761
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http://dx.doi.org/10.1002/ana.20761DOI Listing
March 2006

A novel X-linked form of congenital fiber-type disproportion.

Ann Neurol 2005 Nov;58(5):767-72

Institute for Neuromuscular Research, Children's Hospital at Westmead, Discipline of Paediatrics and Child Health, University of Sydney, Sydney, Australia.

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http://dx.doi.org/10.1002/ana.20644DOI Listing
November 2005

Congenital fiber type disproportion--30 years on.

J Neuropathol Exp Neurol 2003 Oct;62(10):977-89

Institute for Neuromuscular Research, Children's Hospital at Westmead, Discipline of Paediatrics and Child Health, University of Sydney, Sydney, Australia.

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http://dx.doi.org/10.1093/jnen/62.10.977DOI Listing
October 2003

D-2-hydroxyglutaric aciduria: a case with an intermediate phenotype and prenatal diagnosis of two affected fetuses.

Am J Med Genet A 2003 Aug;120A(4):523-7

Department of Medical Genetics, Sydney Children's Hospital, Sydney, Australia.

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http://dx.doi.org/10.1002/ajmg.a.20120DOI Listing
August 2003