Publications by authors named "Nigel G Laing"

99Publications

The Impact of Next-Generation Sequencing on the Diagnosis, Treatment, and Prevention of Hereditary Neuromuscular Disorders.

Mol Diagn Ther 2020 Dec 30;24(6):641-652. Epub 2020 Sep 30.

Neurogenetic Diseases Group, Centre for Medical Research, QEII Medical Centre, University of Western Australia, 6 Verdun St, Nedlands, WA, 6009, Australia.

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http://dx.doi.org/10.1007/s40291-020-00495-2DOI Listing
December 2020

A homozygous pathogenic variant causes a fatal congenital neuropathy.

J Med Genet 2020 Dec 16;57(12):835-842. Epub 2020 Mar 16.

Centre of Medical Research, The University of Western Australia and the Harry Perkins Institute for Medical Research, Perth, Western Australia, Australia

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http://dx.doi.org/10.1136/jmedgenet-2019-106496DOI Listing
December 2020

High-resolution iris and retinal imaging in multisystemic smooth muscle dysfunction syndrome due to a novel Asn117Lys substitution in ACTA2: a case report.

BMC Ophthalmol 2020 Feb 24;20(1):68. Epub 2020 Feb 24.

Centre for Ophthalmology and Visual Science (incorporating Lions Eye Institute), The University of Western Australia, 2 Verdun Street, Nedlands, WA, 6009, Australia.

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http://dx.doi.org/10.1186/s12886-020-01344-wDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7038593PMC
February 2020

Cylindrical spirals in two families: Clinical and genetic investigations.

Neuromuscul Disord 2020 02 25;30(2):151-158. Epub 2019 Dec 25.

Centre for Medical Research, University of Western Australia, Harry Perkins Institute of Medical Research, QEII Medical Centre, Australia. Electronic address:

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http://dx.doi.org/10.1016/j.nmd.2019.12.006DOI Listing
February 2020

Motor neuron diseases caused by a novel VRK1 variant - A genotype/phenotype study.

Ann Clin Transl Neurol 2019 11 27;6(11):2197-2204. Epub 2019 Sep 27.

Centre for Medical Research, The University of Western Australia and the Harry Perkins Institute for Medical Research, Nedlands, Western Australia, Australia.

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http://dx.doi.org/10.1002/acn3.50912DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6856620PMC
November 2019

Pathogenic Abnormal Splicing Due to Intronic Deletions that Induce Biophysical Space Constraint for Spliceosome Assembly.

Am J Hum Genet 2019 09 22;105(3):573-587. Epub 2019 Aug 22.

Kids Neuroscience Centre, Kids Research, The Children's Hospital at Westmead, Sydney, NSW 2145, Australia; Discipline of Child and Adolescent Health, Sydney Medical School, University of Sydney, Sydney, NSW 2006, Australia; The Children's Medical Research Institute, 214 Hawkesbury Road, Sydney, NSW 2145, Australia. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2019.07.013DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6731365PMC
September 2019

Preconception and antenatal carrier screening for genetic conditions: The critical role of general practitioners.

Aust J Gen Pract 2019 03;48(3):106-110

PhD, FRACP, FRCPA, Clinical Geneticist, Centre for Clinical Genetics, Sydney Children@s Hospital, Randwick, NSW; Genetic Pathologist, NSW Health Pathology Randwick Genomics Laboratory, Randwick, NSW; Conjoint Professor, School of Women@s and Children@s Health, University of New South Wales, Randwick, NSW.

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http://dx.doi.org/10.31128/AJGP-10-18-4725DOI Listing
March 2019

Recessive MYH7-related myopathy in two families.

Neuromuscul Disord 2019 06 12;29(6):456-467. Epub 2019 Apr 12.

Department of Paediatric Neurology, Neuromuscular Service, Evelina's Children Hospital, Guy's&St Thomas' Hospital NHS Foundation Trust, London, UK; Randall Division of Cell and Molecular Biophysics, Muscle Signaling Section, King's College, London, UK; Department of Clinical and Basic Neuroscience, Institute of Psychiatry, Psychology and Neuroscience (IoPPN), King's College, London, UK.

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http://dx.doi.org/10.1016/j.nmd.2019.04.002DOI Listing
June 2019

Recent advances in understanding congenital myopathies.

F1000Res 2018 11;7. Epub 2018 Dec 11.

Centre for Medical Research, The University of Western Australia, Perth, WA, Australia.

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http://dx.doi.org/10.12688/f1000research.16422.1DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6290972PMC
March 2019

Early-onset Parkinson disease caused by a mutation in CHCHD2 and mitochondrial dysfunction.

Neurol Genet 2018 Oct 5;4(5):e276. Epub 2018 Oct 5.

Centre for Medical Research (R.G.L., A.-M.J.S., M. Stentenbach, H.G., O.R., N.G.L., H.T., A.F.), University of Western Australia and the Harry Perkins Institute for Medical Research, Nedlands, Western Australia, Australia; Department of Genetics (M. Sedghi), University of Isfahan, Isfahan; Functional Neurosurgery Research Center (M. Salari), Shohada Tajrish Neurosurgical Center of Excellence, Shahid Beheshti University of Medical Sciences, Tehran, Iran; Kariminejad-Najmabadi Pathology and Genetics Center (A.K.), Tehran, Iran; School of Molecular Sciences (O.R., A.F.), The University of Western Australia, Crawley; Department of Diagnostic Genomics (N.G.L.), PathWest, QEII Medical Centre, Nedlands, Western Australia, Australia; and Division Biomedicine and Public Health (H.T.), School of Health and Education, University of Skovde, Sweden.

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http://dx.doi.org/10.1212/NXG.0000000000000276DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6186023PMC
October 2018

Genetics of neuromuscular fetal akinesia in the genomics era.

J Med Genet 2018 08 29;55(8):505-514. Epub 2018 Jun 29.

Centre for Medical Research, Faculty of Health and Medical Sciences, The University of Western Australia, Perth, Western Australia, Australia.

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http://dx.doi.org/10.1136/jmedgenet-2018-105266DOI Listing
August 2018

A Roma founder mutation causes a novel phenotype of centronuclear myopathy with rigid spine.

Neurology 2018 07 27;91(4):e339-e348. Epub 2018 Jun 27.

From the Unidad de Enfermedades Neuromusculares, Department of Neurology (M.C.-S., C.P.), Instituto de Biomedicina de Sevilla (IBiS) (M.C.-S., F.M., C.P.), and Department of Pathology, Neuropathology Unit (E.R.), Hospital Universitario Virgen del Rocío, Sevilla, Spain; Laboratoire Diagnostic Génétique (V.B.), Faculté de Médecine-CHRU, Strasbourg; Institut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC) (V.B., R.Á., J.L.), Illkirch, France; Harry Perkins Institute of Medical Research and Centre for Medical Research (B.M., N.G.L., L.K.), University of Western Australia, Nedlands; Department of Pathology (Neuropathology) (A.H.-L.), Hospital Universitario 12 de Octubre, Madrid Research Institute; Neuropathology Unit (M.O.), Department of Pathology and Neuromuscular Unit, Department of Neurology, IDIBELL-Hospital de Bellvitge, Hospitalet de Llobregat, Barcelona; Department of Neurology and IIS La Fe (N.M., J.J.V.), Hospital Universitari i Politècnic La Fe, Valencia; Centro de Investigación Biomédica en Red en Enfermedades Raras (CIBERER) (N.M., J.D.-M., J.J.V.); Department of Neurology (E.K.), Consulta de Enfermedades Neuromusculares y Unidad de ELA, Hospital General Universitario Santa Lucía, Cartagena, Murcia; Department of Neurology (A.C.), Hospital Virgen de las Nieves, Granada; Department of Neurology (P.Q.), Hospital Torrecárdenas, Almería; Unidad de Enfermedades Neuromusculares (J.D.-M.), Department of Neurology, Universidad Autónoma de Barcelona, Hospital de la Santa Creu i Sant Pau, Barcelona, Spain; Department of Diagnostic Genomics (M.D.), PathWest Laboratory Medicine WA, Perth, Australia; Department of Neurology (C.D.), Hospital 12 de Octubre, Madrid, Spain; Unité de Morphologie Neuromusculaire (N.B.R.), Centre de Référence de Pathologie Neuromusculaire Paris-Est, Institut de Myologie, Groupe Hospitalier Universitaire La Pitié-Salpêtrière, Paris; Université Sorbonne (N.B.R.), UPMC Univ Paris 06, INSERM UMRS974, CNRS FRE3617, Center for Research in Myology, Groupe Hospitalier Universitaire La Pitié-Salpêtrière, Paris, France; Department of Medicine (J.J.V.), Universitat de Valencia; Department of Experimental and Health Sciences (D.C.), Institute of Evolutionary Biology (CSIC-UPF), Universitat Pompeu Fabra, Barcelona, Spain; Centre National de la Recherche Scientifique (J.L.), UMR7104, Illkirch; and Institut National de la Santé et de la Recherche Médicale (J.L.), U964, Illkirch, France.

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http://dx.doi.org/10.1212/WNL.0000000000005862DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6070382PMC
July 2018

Clinical Utility Gene Card for: autosomal dominant myotonia congenita (Thomsen Disease).

Eur J Hum Genet 2018 07 26;26(7):1072-1077. Epub 2018 Apr 26.

Centre for Medical Research, Faculty of Health and Medical Sciences, The University of Western Australia; and Harry Perkins Institute of Medical Research, QQ Block, QEII Medical Centre, Nedlands, WA, 6009, Australia.

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http://dx.doi.org/10.1038/s41431-017-0065-3DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6018704PMC
July 2018

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

Dejerine-Sottas disease in childhood-Genetic and sonographic heterogeneity.

Brain Behav 2018 04 21;8(4):e00919. Epub 2018 Feb 21.

Neurology Department The Royal Children's Hospital Melbourne Parkville Vic. Australia.

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http://dx.doi.org/10.1002/brb3.919DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5893341PMC
April 2018

Clinical Utility Gene Card for: Becker muscular dystrophy.

Eur J Hum Genet 2018 07 21;26(7):1065-1071. Epub 2018 Feb 21.

Centre for Medical Research, Faculty of Health and Medical Sciences, The University of Western Australia, and Harry Perkins Institute of Medical Research, QQ Block, QEII Medical Centre, Nedlands, WA, 6009, Australia.

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http://www.nature.com/articles/s41431-017-0064-4
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http://dx.doi.org/10.1038/s41431-017-0064-4DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6018697PMC
July 2018

CUGC for Duchenne muscular dystrophy (DMD).

Eur J Hum Genet 2018 05 12;26(5):749-757. Epub 2018 Jan 12.

Harry Perkins Institute of Medical Research, QQ Block, QEII Medical Centre, Nedlands, WA, Nedlands, 6009, Australia.

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http://dx.doi.org/10.1038/s41431-017-0013-2DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5945791PMC
May 2018

Myostatin inhibition using mRK35 produces skeletal muscle growth and tubular aggregate formation in wild type and TgACTA1D286G nemaline myopathy mice.

Hum Mol Genet 2018 02;27(4):638-648

Division of Pediatric Pathology, Department of Pathology and Laboratory Medicine and Neuroscience Research Center, Medical College of Wisconsin, Milwaukee 53226, WI, USA.

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http://dx.doi.org/10.1093/hmg/ddx431DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5886278PMC
February 2018

TOR1A variants cause a severe arthrogryposis with developmental delay, strabismus and tremor.

Brain 2017 11;140(11):2851-2859

Centre for Medical Research, The University of Western Australia and the Harry Perkins Institute for Medical Research, Nedlands, Western Australia, Australia.

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http://dx.doi.org/10.1093/brain/awx230DOI Listing
November 2017

Variable cardiac α-actin (Actc1) expression in early adult skeletal muscle correlates with promoter methylation.

Biochim Biophys Acta Gene Regul Mech 2017 Oct 26;1860(10):1025-1036. Epub 2017 Aug 26.

Harry Perkins Institute of Medical Research, QEII Medical Centre, Nedlands, Western Australia, Australia; School of Biomedical Sciences, Faculty of Health and Medical Sciences, University of Western Australia, QEII Medical Centre, Nedlands, Western Australia, Australia. Electronic address:

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http://dx.doi.org/10.1016/j.bbagrm.2017.08.004DOI Listing
October 2017

Cystinosis distal myopathy, novel clinical, pathological and genetic features.

Neuromuscul Disord 2017 Sep 15;27(9):873-878. Epub 2017 May 15.

Centre for Medical Research, University of Western Australia, Harry Perkins Institute of Medical Research, Perth, WA 6009, Australia; Neurogenetic Unit, Department of Neurology, Royal Perth Hospital, Perth, WA 6000, Australia.

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http://dx.doi.org/10.1016/j.nmd.2017.05.010DOI Listing
September 2017

Expanding the phenotypic spectrum associated with mutations of DYNC1H1.

Neuromuscul Disord 2017 Jul 5;27(7):607-615. Epub 2017 May 5.

Neurogenetic Diseases Group Centre for Medical Research, QEII Medical Centre, University of Western Australia, Nedlands, WA 6009, Australia; QEII Medical Centre, Harry Perkins Institute of Medical Research, Nedlands, WA 6009, Australia. Electronic address:

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http://dx.doi.org/10.1016/j.nmd.2017.04.011DOI Listing
July 2017

Lethal multiple pterygium syndrome: A severe phenotype associated with a novel mutation in the nebulin gene.

Neuromuscul Disord 2017 Jun 18;27(6):537-541. Epub 2017 Jan 18.

Harry Perkins Institute for Medical Research and Centre for Medical Research, University of Western Australia, Nedlands, WA 6009, Australia.

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http://dx.doi.org/10.1016/j.nmd.2017.01.013DOI Listing
June 2017

Recurrent de novo BICD2 mutation associated with arthrogryposis multiplex congenita and bilateral perisylvian polymicrogyria.

Neuromuscul Disord 2016 11 19;26(11):744-748. Epub 2016 Sep 19.

Centre for Medical Research, The University of Western Australia and Harry Perkins Institute for Medical Research, Nedlands, Western Australia, Australia; Department of Diagnostic Genomics, Pathwest, Nedlands, Western Australia, Australia.

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http://dx.doi.org/10.1016/j.nmd.2016.09.009DOI Listing
November 2016

New era in genetics of early-onset muscle disease: Breakthroughs and challenges.

Semin Cell Dev Biol 2017 04 9;64:160-170. Epub 2016 Aug 9.

Harry Perkins Institute of Medical Research and the Centre for Medical Research, University of Western Australia, Nedlands, Australia; Department of Diagnostic Genomics, Pathwest, QEII Medical Centre, Nedlands, Australia. Electronic address:

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http://dx.doi.org/10.1016/j.semcdb.2016.08.002DOI Listing
April 2017

CAV3 mutations causing exercise intolerance, myalgia and rhabdomyolysis: Expanding the phenotypic spectrum of caveolinopathies.

Neuromuscul Disord 2016 08 11;26(8):504-10. Epub 2016 May 11.

MRC Centre for Neuromuscular Diseases and Department of Molecular Neuroscience, University College London Institute of Neurology and National Hospital for Neurology and Neurosurgery, Queen Square, London, UK; Dubowitz Neuromuscular Centre, UCL Institute of Child Health, Great Ormond Street Hospital, London, UK.

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http://dx.doi.org/10.1016/j.nmd.2016.05.006DOI 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

Health care utilization and costs for children and adults with duchenne muscular dystrophy.

Muscle Nerve 2016 06 9;53(6):877-84. Epub 2016 May 9.

Harry Perkins Institute of Medical Research, The University of Western Australia, Nedlands, Western Australia, Australia.

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http://dx.doi.org/10.1002/mus.24965DOI Listing
June 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

Complex sarcolemmal invaginations mimicking myotendinous junctions in a case of Laing early-onset distal myopathy.

Neuropathology 2015 Dec 10;35(6):575-81. Epub 2015 Jun 10.

Department of Pathology, University of California, San Francisco, CA, USA.

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http://dx.doi.org/10.1111/neup.12220DOI Listing
December 2015

Clinical utility gene card for: Nemaline myopathy - update 2015.

Eur J Hum Genet 2015 Nov 25;23(11). Epub 2015 Feb 25.

Centre for Medical Research, The University of Western Australia and the Harry Perkins Institute of Medical Research, QEII Medical Centre, Nedlands, Western Australia, Australia.

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http://dx.doi.org/10.1038/ejhg.2015.12DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4613474PMC
November 2015

Pathophysiological concepts in the congenital myopathies: blurring the boundaries, sharpening the focus.

Brain 2015 Feb 31;138(Pt 2):246-68. Epub 2014 Dec 31.

2 National Institute of Neurological Disorders and Stroke/NIH, Porter Neuroscience Research Centre, Bethesda, MD, USA

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http://dx.doi.org/10.1093/brain/awu368DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4306824PMC
February 2015

Novel CHKB mutation expands the megaconial muscular dystrophy phenotype.

Muscle Nerve 2015 Jan 22;51(1):140-3. Epub 2014 Nov 22.

Centre for Medical Research, University of Western Australia, Harry Perkins Institute of Medical Research, QQ Block, QEII Medical Centre, 6 Verdun Street, Perth, Western Australia, 6009, Australia; Instituto de Biomedicina de Sevilla, Hospital Universitario Virgen del Rocío/CSIC/Universidad de Sevilla, Seville, Spain.

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http://dx.doi.org/10.1002/mus.24446DOI Listing
January 2015

SPEG interacts with myotubularin, and its deficiency causes centronuclear myopathy with dilated cardiomyopathy.

Am J Hum Genet 2014 Aug 31;95(2):218-26. Epub 2014 Jul 31.

Division of Genetics and Genomics, Boston Children's Hospital and Harvard Medical School, Boston, MA 02115, USA; Manton Center for Orphan Disease Research, Boston Children's Hospital and Harvard Medical School, Boston, MA 02115, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2014.07.004DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4129406PMC
August 2014

Distal myosin heavy chain-7 myopathy due to the novel transition c.5566G>A (p.E1856K) with high interfamilial cardiac variability and putative anticipation.

Neuromuscul Disord 2014 Aug 4;24(8):721-5. Epub 2014 Jun 4.

Institute of Medical Genetics, Medical University of Vienna, Währinger Strasse 10, 1090 Vienna, Austria.

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http://dx.doi.org/10.1016/j.nmd.2014.05.010DOI Listing
August 2014

Novel MYH7 mutation associated with mild myopathy but life-threatening ventricular arrhythmias and noncompaction.

Int J Cardiol 2014 May 15;173(3):532-5. Epub 2014 Mar 15.

Centre for Medical Research, University of Western Australia and Harry Perkins Institute of Medical Research, QEII Medical Centre, Nedlands, Western Australia 6009, Australia.

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http://dx.doi.org/10.1016/j.ijcard.2014.03.025DOI Listing
May 2014

Novel cofilin-2 (CFL2) four base pair deletion causing nemaline myopathy.

J Neurol Neurosurg Psychiatry 2014 Sep 7;85(9):1058-60. Epub 2014 Mar 7.

Centre for Medical Research, University of Western Australia, Harry Perkins Institute for Medical Research, QEII Medical Centre, Nedlands, Western Australia, Australia Neurogenetics Unit, Department of Diagnostic Genomics, PathWest Laboratory Medicine Level 2 PP Building, QEII Medical Centre, Nedlands, Western Australia, Australia.

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http://dx.doi.org/10.1136/jnnp-2014-307608DOI Listing
September 2014

Approach to the diagnosis of congenital myopathies.

Neuromuscul Disord 2014 Feb 18;24(2):97-116. Epub 2013 Nov 18.

Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, Bethesda, MD, United States.

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http://www.joshuafrase.org/uploads/2011-Diagnosis-Congenital
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http://linkinghub.elsevier.com/retrieve/pii/S096089661300994
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http://dx.doi.org/10.1016/j.nmd.2013.11.003DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5257342PMC
February 2014

Skeletal and cardiac α-actin isoforms differently modulate myosin cross-bridge formation and myofibre force production.

Hum Mol Genet 2013 Nov 19;22(21):4398-404. Epub 2013 Jun 19.

Centre of Human and Aerospace Physiological Sciences, School of Biomedical Sciences, King's College London, Room 3.3, Shepherd's House, Guy's Campus, London SE1 1UL, UK.

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http://dx.doi.org/10.1093/hmg/ddt289DOI Listing
November 2013

Whole exome sequencing in foetal akinesia expands the genotype-phenotype spectrum of GBE1 glycogen storage disease mutations.

Neuromuscul Disord 2013 Feb 3;23(2):165-9. Epub 2012 Dec 3.

Western Australian Institute for Medical Research and the Centre for Medical Research, University of Western Australia, Nedlands, Western Australia, Australia.

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http://dx.doi.org/10.1016/j.nmd.2012.11.005DOI Listing
February 2013

Segregation of a missense variant in enteric smooth muscle actin γ-2 with autosomal dominant familial visceral myopathy.

Gastroenterology 2012 Dec 6;143(6):1482-1491.e3. Epub 2012 Sep 6.

Department of Medical Genetics, Genome-Scale Biology Research Program, Biomedicum Helsinki, University of Helsinki, Helsinki, Finland.

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http://dx.doi.org/10.1053/j.gastro.2012.08.045DOI Listing
December 2012

Skeletal muscle α-actin diseases (actinopathies): pathology and mechanisms.

Acta Neuropathol 2013 Jan 24;125(1):19-32. Epub 2012 Jul 24.

Centre for Medical Research, The University of Western Australia, Crawley, Australia.

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http://dx.doi.org/10.1007/s00401-012-1019-zDOI Listing
January 2013

Investigation of NOTCH4 coding region polymorphisms in sporadic inclusion body myositis.

J Neuroimmunol 2012 Sep 23;250(1-2):66-70. Epub 2012 Jun 23.

School of Pathology and Laboratory Medicine, M504, University of Western Australia, Stirling Highway, Nedlands 6009, Perth, Australia.

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http://dx.doi.org/10.1016/j.jneuroim.2012.04.021DOI Listing
September 2012

Clinical utility gene card for: nemaline myopathy.

Eur J Hum Genet 2012 Jun 18;20(6). Epub 2012 Apr 18.

Centre for Medical Research, The University of Western Australia, Nedlands, Western Australia, Australia.

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http://dx.doi.org/10.1038/ejhg.2012.70DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3355270PMC
June 2012

Genetics of neuromuscular disorders.

Authors:
Nigel G Laing

Crit Rev Clin Lab Sci 2012 Mar-Apr;49(2):33-48

Centre for Medical Research, University of Western Australia, Western Australian Institute for Medical Research, Nedlands, Western Australia, Australia.

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http://dx.doi.org/10.3109/10408363.2012.658906DOI Listing
July 2012

Nemaline myopathies.

Semin Pediatr Neurol 2011 Dec;18(4):230-8

The Folkhälsan Institute of Genetics and Department of Medical Genetics, Haartman Institute, University of Helsinki, Helsinki, Finland.

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http://dx.doi.org/10.1016/j.spen.2011.10.004DOI Listing
December 2011

Fetal akinesia: review of the genetics of the neuromuscular causes.

J Med Genet 2011 Dec 7;48(12):793-801. Epub 2011 Oct 7.

Centre for Medical Research, University of Western Australia, Western Australia, Australia.

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http://dx.doi.org/10.1136/jmedgenet-2011-100211DOI Listing
December 2011

Molecular diagnosis of duchenne muscular dystrophy: past, present and future in relation to implementing therapies.

Clin Biochem Rev 2011 Aug;32(3):129-34

Centre for Medical Research, University of Western Australia M519, Western Australian Institute for Medical Research, QEII Medical Centre, Nedlands, WA 6009;

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3157948PMC
August 2011

Recombination mapping of the susceptibility region for sporadic inclusion body myositis within the major histocompatibility complex.

J Neuroimmunol 2011 Jun 2;235(1-2):77-83. Epub 2011 May 2.

School of Pathology and Laboratory Medicine, M504, University of Western Australia, Perth, Australia.

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http://dx.doi.org/10.1016/j.jneuroim.2011.02.011DOI Listing
June 2011

Extramuscular manifestations in children with severe congenital myopathy due to ACTA1 gene mutations.

Neuromuscul Disord 2011 Jul 21;21(7):489-93. Epub 2011 Apr 21.

Department of Child Neurology, National Center of Neurology and Psychiatry, 4-1-1 Ogawahigashi-cho, Kodaira, Tokyo 187-8551, Japan.

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http://dx.doi.org/10.1016/j.nmd.2011.03.004DOI Listing
July 2011

Mouse models of dominant ACTA1 disease recapitulate human disease and provide insight into therapies.

Brain 2011 Apr 8;134(Pt 4):1101-15. Epub 2011 Feb 8.

Centre for Medical Research, The University of Western Australia, Western Australian Institute for Medical Research, Nedlands, Australia.

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http://dx.doi.org/10.1093/brain/awr004DOI Listing
April 2011