Nigel Laing

Professor

  • The University of Western Australia (M519), 35 Stirling Highway,

    6009 Crawley

    Australia

  • 12763 Citations
  • 54 h-Index
1992 …2021

Research Output 1992 2018

2018

Clinical Utility Gene Card for: Becker muscular dystrophy

Coote, D., Davis, M. R., Cabrera, M., Needham, M., Laing, N. G. & Nowak, K. J. 21 Feb 2018 In : European Journal of Human Genetics. p. 1-7 7 p.

Research output: Contribution to journalArticle

CUGC for Duchenne muscular dystrophy (DMD)

Coote, D. J., Davis, M. R., Cabrera, M., Needham, M., Laing, N. G. & Nowak, K. J. 12 Jan 2018 In : European Journal of Human Genetics. p. 1-9 9 p.

Research output: Contribution to journalArticle

Myostatin inhibition using mrk35 produces skeletal muscle growth and tubular aggregate formation in wild type and TgACTA1D286G nemaline myopathy mice

Tinklenberg, J. A., Siebers, E. M., Beatka, M. J., Meng, H., Yang, L., Zhang, Z., Ross, J. A., Ochala, J., Morris, C., Owens, J. M., Laing, N. G., Nowak, K. J. & Lawlor, M. W. 15 Feb 2018 In : Human Molecular Genetics. 27, 4, p. 638-648 11 p., ddx431

Research output: Contribution to journalArticle

Nemaline Myopathies
Myostatin
Skeletal Muscle
Forelimb
Muscle Strength

Nemaline myopathy and distal arthrogryposis associated with an autosomal recessive TNNT3 splice variant

Sandaradura, S. A., Bournazos, A., Mallawaarachchi, A., Cummings, B. B., Waddell, L. B., Jones, K. J., Troedson, C., Sudarsanam, A., Nash, B. M., Peters, G. B., Algar, E. M., Macarthur, D. G., North, K. N., Brammah, S., Charlton, A., Laing, N. G., Wilson, M. J., Davis, M. R. & Cooper, S. T. Mar 2018 In : Human Mutation. 39, 3, p. 383-388

Research output: Contribution to journalArticle

Nemaline Myopathies
Arthrogryposis
Myotonia Congenita
Troponin T
Muscle Hypotonia
2017

ATP1A1 REPRESENTS A SIGNIFICANT NOVEL DOMINANT CMT2 GENE

Lassuthova, P., Rebelo, A., Ravenscroft, G., Lamont, P., Baxter, M., Ong, R., Davis, M., Manganelli, F., Tao, F., Saghira, C., Abreu, L., Bai, Y., Isom, D., Laing, N., B-O, C., Seeman, P., Shy, M., Santoro, L. & Zuchner, S. Sep 2017 In : Journal of the Peripheral Nervous System. 22, 3, p. 325-325 1 p.

Research output: Contribution to journalAbstract/Meeting Abstract

BIN1 founder mutation in the Spanish gypsy population is the most frequent cause of adult onset centronuclear myopathies in the south of Spain

Cabrera-Serrano, M., Rivas-Infante, E., Mavillard, F., Morar, B., Comas, D., Carvajal, A., Avila, R., Muelas, N., Olive, M., Diaz, J., Verges, E., Romero, N., Laporte, J., Vilchez, J., Laing, N., Kalaydjieva, L. & Paradas, C. Oct 2017 In : NEUROMUSCULAR DISORDERS. 27, p. S172-S173 2 p.

Research output: Contribution to journalAbstract/Meeting Abstract

4 Citations

Cost-effectiveness of massively parallel sequencing for diagnosis of paediatric muscle diseases

Schofield, D., Alam, K., Douglas, L., Shrestha, R., MacArthur, D. G., Davis, M., Laing, N. G., Clarke, N. F., Burns, J., Cooper, S. T., North, K. N., Sandaradura, S. A. & O'Grady, G. L. 2017 In : Genome Medicine. 2

Research output: Contribution to journalArticle

Open Access
High-Throughput Nucleotide Sequencing
Exome
Neuromuscular Diseases
Cost-Benefit Analysis
Pediatrics

Cystinosis distal myopathy, novel clinical, pathological and genetic features

Cabrera, M., Junckerstorff, R. C., Alisheri, A., Pestronk, A., Laing, N. G., Weihl, C. C. & Lamont, P. J. Sep 2017 In : Neuromuscular Disorders. 27, 9, p. 873-878

Research output: Contribution to journalArticle

Distal Myopathies
Cystinosis
Siblings
Cysteamine
Muscles

Do titin developmental isoforms contribute to the pathogenesis of congenital titinopathy?

Oates, E., Yau, K., Jones, K., Smith, J., Cummings, B., Farrar, M., Cooper, S., Lek, M., Hoffman, E., Straub, V., Ferreiro, A., Udd, B., Beggs, A., Bonnemann, C., North, K., MacArthur, D., Granzier, H., Muntoni, F., Davis, M. & Laing, N. Oct 2017 In : NEUROMUSCULAR DISORDERS. 27, p. S237-S238 2 p.

Research output: Contribution to journalAbstract/Meeting Abstract

2 Citations

Expanding the phenotypic spectrum associated with mutations of DYNC1H1

Beecroft, S. J., McLean, C. A., Delatycki, M. B., Koshy, K., Yiu, E., Haliloglu, G., Orhan, D., Lamont, P. J., Davis, M. R., Laing, N. G. & Ravenscroft, G. Jul 2017 In : Neuromuscular Disorders. 27, 7, p. 607-615

Research output: Contribution to journalArticle

Spinal Muscular Atrophy
Mutation
Lower Extremity
Hereditary Spastic Paraplegia
Myotonia Congenita

Gene Expression Networks in the Murine Pulmonary Myocardium Provide Insight into the Pathobiology of Atrial Fibrillation

Boutilier, J. K., Taylor, R. L., Mann, T., McNamara, E., Hoffman, G. J., Kenny, J., Dilley, R. J., Henry, P., Morahan, G., Laing, N. G. & Nowak, K. J. 7 Sep 2017 In : G3: Genes, Genomes, Genetics. 7, 9, p. 2999-3017 19 p.

Research output: Contribution to journalArticle

Open Access
File
Gene Regulatory Networks
Atrial Fibrillation
Myocardium
Gene Expression
Lung

Genetic and histological characterisation of excitation-contraction coupling related structural myopathy cohort

Beecroft, S., Choi, R., McLean, C., Olive, M., Ryan, M., Davis, M., Laing, N., Launikonis, B. & Ravenscroft, G. Oct 2017 In : NEUROMUSCULAR DISORDERS. 27, p. S97-S97 1 p.

Research output: Contribution to journalAbstract/Meeting Abstract

24 Citations

Improving genetic diagnosis in Mendelian disease with transcriptome sequencing

Cummings, B. B. , Marshall, J. L. , Tukiainen, T. , Lek, M. , Donkervoort, S. , Foley, A. R. , Bolduc, V. , Waddell, L. B. , Sandaradura, S. A. , O'Grady, G. L. , Estrella, E. , Reddy, H. M. , Zhao, F. , Weisburd, B. , Karczewski, K. J. , O'Donnell-Luria, A. H. , Birnbaum, D. , Sarkozy, A. , Hu, Y. , Gonorazky, H. & 226 others Claeys, K., Joshi, H., Bournazos, A., Oates, E. C., Ghaoui, R., Davis, M., Laing, N. G., Topf, A., Kang, P. B., Beggs, A. H., North, K. N., Straub, V., Dowling, J. J., Muntoni, F., Clarke, N. F., Cooper, S. T., Bönnemann, C. G., MacArthur, D. G., Ardlie, K. G., Getz, G., Gelfand, E. T., Segrè, A. V., Aguet, F., Sullivan, T. J., Li, X. G., Nedzel, J. L., Trowbridge, C. A., Hadley, K., Huang, K. H., Noble, M. S., Nguyen, D. T., Nobel, A. B., Wright, F. A., Shabalin, A. A., Palowitch, J. J., Zhou, Y. H., Dermitzakis, E. T., McCarthy, M. I., Payne, A. J., Lappalainen, T., Castel, S., Kim-Hellmuth, S., Mohammadi, P., Battle, A., Parsana, P., Mostafavi, S., Brown, A., Ongen, H., Delaneau, O., Panousis, N., Howald, C., Van De Bunt, M., Guigo, R., Monlong, J., Reverter, F., Garrido, D., Munoz, M., Bogu, G., Sodaei, R., Papasaikas, P., Ndungu, A. W., Montgomery, S. B., Li, X., Fresard, L., Davis, J. R., Tsang, E. K., Zappala, Z., Abell, N. S., Gloudemans, M. J., Liu, B., Damani, F. N., Saha, A., Kim, Y., Strober, B. J., He, Y., Stephens, M., Pritchard, J. K., Wen, X., Urbut, S., Cox, N. J., Nicolae, D. L., Gamazon, E. R., Im, H. K., Brown, C. D., Engelhardt, B. E., Park, Y. S., Jo, B., McDowell, I. C., Gewirtz, A., Gliner, G., Conrad, D., Hall, I., Chiang, C., Scott, A., Sabatti, C., Eskin, E., Peterson, C., Hormozdiari, F., Kang, E. Y., Mangul, S., Han, B., Sul, J. H., Feinberg, A. P., Rizzardi, L. F., Hansen, K. D., Hickey, P., Akey, J., Kellis, M., Li, J. B., Snyder, M., Tang, H., Jiang, L., Lin, S., Stranger, B. E., Fernando, M., Oliva, M., Stamatoyannopoulos, J., Kaul, R., Halow, J., Sandstrom, R., Haugen, E., Johnson, A., Lee, K., Bates, D., Diegel, M., Pierce, B. L., Chen, L., Kibriya, M. G., Jasmine, F., Doherty, J., Demanelis, K., Smith, K. S., Li, Q., Zhang, R., Nierras, C. R., Moore, H. M., Rao, A., Guan, P., Vaught, J. B., Branton, P. A., Carithers, L. J., Volpi, S., Struewing, J. P., Martin, C. G., Nicole, L. C., Koester, S. E., Addington, A. M., Little, A. R., Leinweber, W. F., Thomas, J. A., Kopen, G., McDonald, A., Mestichelli, B., Shad, S., Lonsdale, J. T., Salvatore, M., Hasz, R., Walters, G., Johnson, M., Washington, M., Brigham, L. E., Johns, C., Wheeler, J., Roe, B., Hunter, M., Myer, K., Foster, B. A., Moser, M. T., Karasik, E., Gillard, B. M., Kumar, R., Bridge, J., Miklos, M., Jewell, S. D., Rohrer, D. C., Valley, D., Montroy, R. G., Mash, D. C., Davis, D. A., Undale, A. H., Smith, A. M., Tabor, D. E., Roche, N. V., McLean, J. A., Vatanian, N., Robinson, K. L., Sobin, L., Barcus, M. E., Valentino, K. M., Qi, L., Hunter, S., Hariharan, P., Singh, S., Um, K. S., Matose, T., Tomadzewski, M. M., Siminoff, L. A., Traino, H. M., Mosavel, M., Barker, L. K., Zerbino, D. R., Juettmann, T., Taylor, K., Ruffier, M., Sheppard, D., Trevanion, S., Flicek, P., Kent, W. J., Rosenbloom, K. R., Haeussler, M., Lee, C. M., Paten, B., Vivan, J., Zhu, J., Goldman, M., Craft, B., Li, G., Ferreira, P. G., Yeger-Lotem, E., Maurano, M. T., Barshir, R., Basha, O., Xi, H. S., Quan, J., Sammeth, M. & Zaugg, J. B. 19 Apr 2017 In : Science Translational Medicine. 9, 386, eaal5209

Research output: Contribution to journalArticle

Open Access
Transcriptome
RNA Sequence Analysis
Rare Diseases
Collagen
Exome
1 Citations

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

Abdalla, E., Ravenscroft, G., Zayed, L., Beecroft, S. J. & Laing, N. G. 1 Jun 2017 In : Neuromuscular Disorders. 27, 6, p. 537-541 5 p.

Research output: Contribution to journalArticle

Cystic Lymphangioma
Phenotype
Mutation
Neuromuscular Junction Diseases
Arthrogryposis
6 Citations

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

Ravenscroft, G., Davis, M. R., Lamont, P., Forrest, A. & Laing, N. G. Apr 2017 In : Seminars in Cell and Developmental Biology. 64, p. 160-170 11 p.

Research output: Contribution to journalReview article

2 Citations

Outcomes of an international workshop on preconception expanded carrier screening: Some considerations for governments

Molster, C. M., Lister, K., Metternick-Jones, S., Baynam, G., Clarke, A. J., Straub, V., Dawkins, H. J. S. & Laing, N. 24 Feb 2017 In : Frontiers in Public Health. 5, FEB, 25

Research output: Contribution to journalArticle

Open Access
Education
Decision Making
Population Control
Health Services Needs and Demand
Medical Genetics
2 Citations

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

Kariminejad, A., Dahl-Halvarsson, M., Ravenscroft, G., Afroozan, F., Keshavarz, E., Goullée, H., Davis, M. R., Faraji Zonooz, M., Najmabadi, H., Laing, N. G. & Tajsharghi, H. 1 Nov 2017 In : Brain. 140, 11, p. 2851-2859 9 p.

Research output: Contribution to journalArticle

Arthrogryposis
Strabismus
Tremor
Mutation
Penetrance

Utility of a next-generation sequencing (NGS)-based neuromuscular disease gene panel in an investigation of 30 families with early-onset presentation from a tertiary pediatric neuromuscular clinic

Ardicli, D., Nowak, K., Haliloglu, G., Goullee, H., Davis, M., Talim, B., Laing, N. & Topaloglu, H. Oct 2017 In : NEUROMUSCULAR DISORDERS. 27, p. S196-S196 1 p.

Research output: Contribution to journalAbstract/Meeting Abstract

1 Citations

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

Boutilier, J. K., Taylor, R. L., Ram, R., McNamara, E., Nguyen, Q., Goullée, H., Chandler, D., Mehta, M., Balmer, L., Laing, N. G., Morahan, G. & Nowak, K. J. 26 Aug 2017 In : Biochimica et Biophysica Acta: international journal of biochemistry and biophysics. 1860, 10, p. 1025-1036 12 p.

Research output: Contribution to journalArticle

Methylation
Actins
Skeletal Muscle
Quantitative Trait Loci
Protein Isoforms
2016
2 Citations

Biallelic PPA2 Mutations Cause Sudden Unexpected Cardiac Arrest in Infancy

Guimier, A. , Gordon, C. T. , Godard, F. , Ravenscroft, G. , Oufadem, M. , Vasnier, C. , Rambaud, C. , Nitschke, P. , Bole-Feysot, C. , Masson, C. , Dauger, S. , Longman, C. , Laing, N. G. , Kugener, B. , Bonnet, D. , Bouvagnet, P. , Di Filippo, S. , Probst, V. , Redon, R. , Charron, P. & 7 others Rötig, A., Lyonnet, S., Dautant, A., De Pontual, L., Di Rago, J-P., Delahodde, A. & Amiel, J. 1 Sep 2016 In : AMERICAN JOURNAL OF HUMAN GENETICS. 99, 3, p. 666-673

Research output: Contribution to journalArticle

Open Access
Sudden Cardiac Death
Yeasts
Mutation
Mitochondria
Pyrophosphatases
6 Citations

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

Siciliani Scalco, R. , Gardiner, A. R. , Pitceathly, R. D. S. , Hilton-Jones, D. , Schapira, A. H. , Turner, C. , Parton, M. , Desikan, M. , Barresi, R. , Marsh, J. , Manzur, A. Y. , Childs, A-M. , Feng, L. , Murphy, E. , Lamont, P. J. , Ravenscroft, G. , Wallefeld, W. , Davis, M. R. , Laing, N. G. , Holton, J. L. & 7 others Fiahlo, D., Bushby, K., Hanna, M. G., Phadke, R., Jungbluth, H., Houlden, H. & Quinlivan, R. Aug 2016 In : NEUROMUSCULAR DISORDERS. 26, 8, p. 504-510

Research output: Contribution to journalArticle

Open Access
File
Rhabdomyolysis
Myalgia
Caveolin 3
Exercise
Mutation
9 Citations

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

O'Grady, G. L., Lek, M., Lamande, S. R., Waddell, L., Oates, E. C., Punetha, J., Ghaoui, R., Sandaradura, S. A., Best, H., Kaur, S., Davis, M., Laing, N. G., Muntoni, F., Hoffman, E., Macarthur, D. G., Clarke, N. F., Cooper, S. & North, K. 7 Jul 2016 In : Annals of Neurology. 80, 1, p. 101-111 11 p.

Research output: Contribution to journalArticle

Muscular Dystrophies
Genes
Biopsy
Muscles
Congenital Myasthenic Syndromes

Distal Myopathies

Lamont, P. J. & Laing, N. G. 2016 International Neurology. R. P. L. D. D. T. W. M. C. R. B. (ed.). 2nd ed. United States: John Wiley & Sons, p. 494-496 3 p.

Research output: Chapter in Book/Report/Conference proceedingChapter

1 Citations

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

Teoh, L., Geelhoed, E., Bayley, K., Leonard, H. & Laing, N. Jun 2016 In : Muscle and Nerve. 53, 6, p. 877-884

Research output: Contribution to journalArticle

Patient Acceptance of Health Care
Duchenne Muscular Dystrophy
Health Care Costs
Costs and Cost Analysis
Economics
23 Citations

Loss-of-function mutations in SCN4A cause severe foetal hypokinesia or 'classical' congenital myopathy

Zaharieva, I. T. , Thor, M. G. , Oates, E. C. , Van Karnebeek, C. , Hendson, G. , Blom, E. , Witting, N. , Rasmussen, M. , Gabbett, M. T. , Ravenscroft, G. , Sframeli, M. , Suetterlin, K. , Sarkozy, A. , D'Argenzio, L. , Hartley, L. , Matthews, E. , Pitt, M. , Vissing, J. , Ballegaard, M. , Krarup, C. & 20 others Slørdahl, A., Halvorsen, H., Ye, X. C., Zhang, L. H., Løkken, N., Werlauff, U., Abdelsayed, M., Davis, M. R., Feng, L., Phadke, R., Sewry, C. A., Morgan, J. E., Laing, N., Vallance, H., Ruben, P., Hanna, M. G., Lewis, S., Kamsteeg, E. J., Männikkö, R. & Muntoni, F. Mar 2016 In : Brain. 139, 3, p. 674-691 18 p.

Research output: Contribution to journalArticle

Open Access
Myotonia Congenita
Hypokinesia
Mutation
Muscle Weakness
Myotonia
9 Citations

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

Ravenscroft, G., Di Donato, N., Hahn, G., Davis, M. R., Craven, P. D., Poke, G., Neas, K. R., Neuhann, T. M., Dobyns, W. B. & Laing, N. G. Nov 2016 In : Neuromuscular Disorders. 26, 11, p. 744-748

Research output: Contribution to journalArticle

Arthrogryposis
Mutation
Micrognathism
Hereditary Spastic Paraplegia
Parturition
16 Citations

The rare and undiagnosed diseases diagnostic service - application of massively parallel sequencing in a state-wide clinical service

Baynam, G. , Pachter, N. , McKenzie, F. , Townshend, S. , Slee, J. , Kiraly-Borri, C. , Vasudevan, A. , Hawkins, A. , Broley, S. , Schofield, L. , Verhoef, H. , Walker, C. E. E. , Molster, C. , Blackwell, J. M. , Jamieson, S. , Tang, D. , Lassmann, T. , Mina, K. , Beilby, J. , Davis, M. & 5 others Laing, N., Murphy, L., Weeramanthri, T., Dawkins, H. & Goldblatt, J. 2016 In : Orphanet Journal of Rare Diseases. 11, 7 p., 77

Research output: Contribution to journalArticle

Genetic Services
Diagnostic Services
High-Throughput Nucleotide Sequencing
Rare Diseases
Western Australia
4 Citations

Variants in the Oxidoreductase PYROXD1 Cause Early-Onset Myopathy with Internalized Nuclei and Myofibrillar Disorganization

O'Grady, G. L. , Best, H. A. , Sztal, T. E. , Schartner, V. , Sanjuan-Vazquez, M. , Donkervoort, S. , Abath Neto, O. , Sutton, R. B. , Ilkovski, B. , Romero, N. B. , Stojkovic, T. , Dastgir, J. , Waddell, L. B. , Boland, A. , Hu, Y. , Williams, C. , Ruparelia, A. A. , Maisonobe, T. , Peduto, A. J. , Reddel, S. W. & 22 others Lek, M., Tukiainen, T., Cummings, B. B., Joshi, H., Nectoux, J., Brammah, S., Deleuze, J. F., Ing, V. O., Ramm, G., Ardicli, D., Nowak, K., Talim, B., Topaloglu, H., Laing, N., North, K. N., Macarthur, D. G., Friant, S., Clarke, N. F., Bryson-Richardson, R. J., Bönnemann, C. G., Laporte, J. & Cooper, S. T. 3 Nov 2016 In : American Journal of Human Genetics. 99, 5, p. 1086-1105

Research output: Contribution to journalArticle

Open Access
Zebrafish
Muscular Diseases
Oxidoreductases
NAD
Nucleotides

What is the role for preconception carrier screening in neurology?

Laing, N. 2016 In : Advances in Clinical Neuroscience and Rehabilitation. 16, 1, p. 5-6 2 p.

Research output: Contribution to journalComment/debate

Open Access
2015
3 Citations

Adult onset distal and proximal myopathy with complete ophthalmoplegia associated with a novel de novo p.(Leu1877Pro) mutation in MYH2

Cabrera-Serrano, M., Fabian, V. A., Boutilier, J., Wise, C., Faiz, F., Lamont, P. & Laing, N. Dec 2015 In : Clinical Genetics. 88, 6, p. 573–578

Research output: Contribution to journalReview article

Open Access
File
Distal Myopathies
Ophthalmoplegia
Muscular Diseases
Mutation
Myotonia Congenita
15 Citations
Megalencephaly
Germ-Line Mutation
Intellectual Disability
Costello Syndrome
Thorax
5 Citations

Clinical utility gene card for: Nemaline myopathy - update 2015

Nowak, K., Davis, M. R., Wallgren-Pettersson, C., Lamont, P. J. & Laing, N. Nov 2015 In : European Journal of Human Genetics. 23, 11, p. e1-e5 5 p.

Research output: Contribution to journalArticle

Open Access
File
1 Citations

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

Reis, G. F., De La Motte, G., Gooding, R., Laing, N. & Margeta, M. Dec 2015 In : Neuropathology. 35, 6, p. 575-581

Research output: Contribution to journalArticle

Open Access
File
Distal Myopathies
Quadriceps Muscle
Biopsy
Mutation
Modifier Genes
18 Citations

Expanding the phenotype of GMPPB mutations

Cabrera-Serrano, M., Ghaoui, R., Ravenscroft, G., Johnsen, R. D., Davis, M. R., Corbett, A., Reddel, S., Sue, C. M., Liang, C., Waddell, L. B., Kaur, S., Lek, M., North, K. N., Macarthur, D. G., Lamont, P., Clarke, N. F. & Laing, N. Apr 2015 In : Brain. 138, 4, p. 836-844

Research output: Contribution to journalArticle

Limb-Girdle Muscular Dystrophies
Rhabdomyolysis
Phenotype
Intellectual Disability
Mutation
25 Citations

Mutations of GPR126 Are Responsible for Severe Arthrogryposis Multiplex Congenita

Ravenscroft, G. , Nolent, F. , Rajagopalan, S. , Meireles, A. M. , Paavola, K. J. , Gaillard, D. , Alanio, E. , Buckland, M. , Arbuckle, S. , Krivanek, M. , Maluenda, J. , Pannell, S. , Gooding, R. , Ong, R. , Allcock, R. , Carvalho, E. D. F. , Carvalho, M. D. F. , Kok, F. , Talbot, W. S. , Melki, J. & 1 others Laing, N. 4 Jun 2015 In : The American Journal of Human Genetics. 96, 6, p. 955-961

Research output: Contribution to journalArticle

Open Access
Arthrogryposis
Exome
Mutation
Peripheral Nerves
Axons
23 Citations

Next generation sequencing in a large cohort of patients presenting with neuromuscular disease before or at birth

Todd, E. , Yau, K. , Ong, R. , Slee, J. , Mcgillivray, G. , Barnett, C. P. , Haliloglu, G. , Talim, B. , Akcoren, Z. , Kariminejad, A. , Cairns, A. , Clarke, N. F. , Freckmann, M. L. , Romero, N. B. , Williams, D. , Sewry, C. A. , Colley, A. , Ryan, M. M. , Kiraly-Borri, C. , Sivadorai, P. & 6 others Allcock, R., Beeson, D., Maxwell, S., Davis, M. R., Laing, N. & Ravenscroft, G. 17 Nov 2015 In : Orphanet Journal of Rare Diseases. 10, 1, 14 p., 148

Research output: Contribution to journalArticle

Open Access
Neuromuscular Diseases
Parturition
Myotonia Congenita
Arthrogryposis
Hypokinesia
32 Citations

Pathophysiological concepts in the congenital myopathies: Blurring the boundaries, sharpening the focus

Ravenscroft, G., Laing, N. & Bönnemann, C. G. 1 Feb 2015 In : Brain. 138, 2, p. 246-268 23 p.

Research output: Contribution to journalArticle

Open Access
Myotonia Congenita
Genes
Skeletal Muscle
Pathology
Excitation Contraction Coupling
9 Citations

TPM3 deletions cause a hypercontractile congenital muscle stiffness phenotype

Donkervoort, S. , Papadaki, M. , De Winter, J. M. , Neu, M. B. , Kirschner, J. , Bolduc, V. , Yang, M. L. , Gibbons, M. A. , Hu, Y. , Dastgir, J. , Leach, M. E. , Rutkowski, A. , Foley, A. R. , Krüger, M. , Wartchow, E. P. , Mcnamara, E. , Ong, R. , Nowak, K. , Laing, N. , Clarke, N. F. & 3 others Ottenheijm, C. A. C., Marston, S. B. & Bönnemann, C. G. Dec 2015 In : Annals of Neurology. 78, 6, p. 982-994

Research output: Contribution to journalArticle

Open Access
File
Tropomyosin
Actins
Phenotype
Muscles
Mutation
39 Citations

Use of whole-exome sequencing for diagnosis of limb-girdle muscular dystrophy: Outcomes and lessons learned

Ghaoui, R., Cooper, S. T., Lek, M., Jones, K., Corbett, A., Reddel, S. W., Needham, M., Liang, C., Waddell, L. B., Nicholson, G., O'Grady, G., Kaur, S., Ong, R., Davis, M., Sue, C. M., Laing, N., North, K. N., Macarthur, D. G. & Clarke, N. F. Dec 2015 In : JAMA Neurology. 72, 12, p. 1424-1432

Research output: Contribution to journalArticle

Limb-Girdle Muscular Dystrophies
Exome
Muscular Diseases
Genes
Mutation
13 Citations

Zebrafish models for nemaline myopathy reveal a spectrum of nemaline bodies contributing to reduced muscle function

Sztal, T. E., Zhao, M., Williams, C., Oorschot, V., Parslow, A. C., Giousoh, A., Yuen, M., Hall, T. E., Costin, A., Ramm, G., Bird, P. I., Busch-Nentwich, E. M., Stemple, D. L., Currie, P. D., Cooper, S. T., Laing, N., Nowak, K. & Bryson-Richardson, R. J. Sep 2015 In : Acta Neuropathologica. 130, 3, p. 389-406

Research output: Contribution to journalArticle

Open Access
Nemaline Myopathies
Zebrafish
Muscle Weakness
Actins
Muscles
2014

Adult onset distal and proximal myopathy with complete ophthalmoplegia and bulbar involvement due to de novo mutation in MYH2

Cabrera, M., Junckerstorff, R., Lamont, P. & Laing, N. 2014 19th Congress of the World Muscle Society. United Kingdom: Elsevier, Vol. 24, p. 796-797

Research output: Chapter in Book/Report/Conference proceedingConference paper

82 Citations

Approach to the diagnosis of congenital myopathies

North, K. N. , Wang, C. H. , Clarke, N. F. , Jungbluth, H. , Vainzof, M. , Dowling, J. J. , Amburgey, K. , Quijano-Roy, S. , Beggs, A. H. , Sewry, C. A. , Laing, N. , Bönnemann, C. G. , Aloysius, A. , Apkon, S. D. , Bellini, J. , Bertini, E. , Biancalana, V. V. , Birnkrant, D. J. , Bushby, K. M. D. , Connolly, A. M. & 39 others Estournet-Mathiaud, B., Ferreiro, A., Fitzgerald, D. A., Florence, J. M., Richard Gee, P. T., Giannetti, J. G., Glanzman, A. M., Goebel, H. H., Guillet, M., Hofmeister, B., Labeit, S., Laporte, J., Little, D., Kemp, J., Koumbourlis, A. C., Main, M., Matthews, D., Morrison, L. A., Munns, C. F. J., Muntoni, F. M., Navarro, C. A., Panitch, H., Pelin, K., Rose, K. J., Santiago, M. T., Schroth, M. K., Sejersen, T., Simonds, A. K., Da Silva, A. H. C., Rinsky, L. A., Roméro, N. B., Schochet, P., Schüler, P. M., Shapiro, F. D., Storhaug, K., Wallgren-Pettersson, C., Wallis, C., Weiss, H. & Yuan, N. 2014 In : Neuromuscular Disorders. 24, 2, p. 97-116

Research output: Contribution to journalArticle

Open Access
Myotonia Congenita
Muscles
Pathology
Genes
Mutation

Clinical and genetic characterization of distal myopathies

Cabrera, M., Junckerstorff, R., Needham, M., Lamont, P. & Laing, N. 2014 19th Congress of the World Muscle Society. United Kingdom: Elsevier, Vol. 24, p. 810

Research output: Chapter in Book/Report/Conference proceedingConference paper

Congenital/ultrastructural myopathies

Ravenscroft, G., Clarke, N. F. & Laing, N. 2014 Oxford Textbook of Neuromuscular Disorders. Hilton-Jones, D. & Turner, M. R. (eds.). First ed. United Kingdom: Oxford University Press, p. 277-287

Research output: Chapter in Book/Report/Conference proceedingChapter (peer-reviewed)

5 Citations

Distal arthrogryposis type 5D with novel clinical features and compound heterozygous mutations in ECEL1

Barnett, C. P., Todd, E. J., Ong, R., Davis, M. R., Atkinson, V., Allcock, R., Laing, N. & Ravenscroft, G. 2014 In : American Journal of Medical Genetics, Part A. 164, 7, p. 1846-1849

Research output: Contribution to journalLetter

7 Citations

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

Finsterer, J. H., Brandau, O., Stöllberger, C., Wallefeld, W., Laing, N. & Laccone, F. A. 2014 In : Neuromuscular Disorders. 24, 8, p. 721-725

Research output: Contribution to journalArticle

Myosin Heavy Chains
Muscular Diseases
Distal Myopathies
Dilated Cardiomyopathy
Cardiac Arrhythmias
36 Citations

KLHL40 deficiency destabilizes thin filament proteins and promotes Nemaline myopathy

Garg, A., O'Rourke, J. R., Long, C., Doering, J., Ravenscroft, G., Bezprozvannaya, S., Nelson, B. R., Beetz, N., Li, L., Chen, S., Laing, N., Grange, R. W., Bassel-Duby, R. S. & Olson, E. N. 1 Aug 2014 In : Journal of Clinical Investigation. 124, 8, p. 3529-3539 11 p.

Research output: Contribution to journalArticle

Open Access
Nemaline Myopathies
Sarcomeres
Proteins
Myotonia Congenita
Muscles
59 Citations

Leiomodin-3 dysfunction results in thin filament disorganization and nemaline myopathy

Yuen, M. , Sandaradura, S. A. , Dowling, J. J. , Kostyukova, A. S. , Moroz, N. A. , Quinlan, K. G. R. , Lehtokari, V. L. , Ravenscroft, G. , Todd, E. , Ceyhan-Birsoy, O. , Gokhin, D. S. , Maluenda, J. , Lek, M. , Nolent, F. , Pappas, C. T. , Novak, S. M. , D'Amico, A. , Malfatti, E. , Thomas, B. P. , Gabriel, S. B. & 37 others Gupta, N., Daly, M. J., Ilkovski, B., Houweling, P. J., Davidson, A. E., Swanson, L. C., Brownstein, C. A., Gupta, V. A., Medne, L., Shannon, P., Martin, N., Bick, D. P., Flisberg, A., Holmberg, E. E., Van Den Bergh, P., Lapunzina, P., Waddell, L. B., Sloboda, D. D., Bertini, E. S., Chitayat, D. A., Telfer, W. R., Laquerrière, A., Gregorio, C. C., Ottenheijm, C. A. C., Bönnemann, C. G., Pelin, K., Beggs, A. H., Hayashi, Y., Roméro, N. B., Laing, N., Nishino, I., Wallgren-Pettersson, C., Melki, J., Fowler, V. M., Macarthur, D. G., North, K. N. & Clarke, N. F. Nov 2014 In : Journal of Clinical Investigation. 124, 11, p. 4693-4708

Research output: Contribution to journalArticle

Nemaline Myopathies
Actin Cytoskeleton
Muscles
Skeletal Muscle
Myotonia Congenita
30 Citations

Mutation update: The spectra of nebulin variants and associated myopathies

Lehtokari, V. L., Kiiski, K., Sandaradura, S. A., Laporte, J. F., Repo, P., Frey, J. A., Donner, K. M., Marttila, M., Saunders, C., Barth, P. G., Den Dunnen, J. T., Beggs, A. H., Clarke, N. F., North, K. N., Laing, N., Roméro, N. B., Winder, T. L., Pelin, K. & Wallgren-Pettersson, C. Dec 2014 In : Human Mutation. 35, 12, p. 1418-1426

Research output: Contribution to journalArticle

Open Access
File
Nemaline Myopathies
Muscular Diseases
Mutation
Distal Myopathies
Myotonia Congenita
31 Citations

Mutation Update and Genotype-Phenotype Correlations of Novel and Previously Described Mutations in TPM2 and TPM3 Causing Congenital Myopathies

Marttila, M. , Lehtokari, V. L. , Marston, S. B. , Nyman, T. A. , Barnérias, C. , Beggs, A. H. , Bertini, E. , Ceyhan-Birsoy, O. , Cintas, P. , Gérard, M. J. , Gilbert-Dussardier, B. , Hogue, J. S. , Longman, C. A. L. , Eymard, B. , Frydman, M. I. , Kang, P. , Klinge, L. , Kolski, H. K. , Lochmüller, H. , Magy, L. & 21 others Manel, V., Mayer, M. N., Mercuri, E. A., North, K. N., Peudenier-Robert, S., Pihko, H., Probst, F. J., Reisin, R. C., Stewart, W. R., Taratuto, A. L., De Visser, M., Wilichowski, E. K. G., Winer, J. B., Nowak, K., Laing, N., Winder, T. L., Monnier, N., Clarke, N. F., Pelin, K., Grönholm, M. & Wallgren-Pettersson, C. 2014 In : Human Mutation. 35, 7, p. 779-790

Research output: Contribution to journalArticle

Myotonia Congenita
Genetic Association Studies
Mutation
Tropomyosin
Nemaline Myopathies