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  • Nigel Laing
2016

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/Conference paperChapter

2012

Clinical utility gene card for: Nemaline myopathy

Nowak, K., Davis, M. R., Wallgren-Pettersson, C., Lamont, P. J. & Laing, N., 2012, In : European Journal of Human Genetics. 20, p. 4pp

Research output: Contribution to journalArticle

Open Access
4 Citations (Scopus)
2018

L-tyrosine supplementation does not ameliorate skeletal muscle dysfunction in zebrafish and mouse models of dominant skeletal muscle alpha-actin nemaline myopathy

Messineo, A. M., Gineste, C., Sztal, T. E., McNamara, E. L., Vilmen, C., Ogier, A. C., Hahne, D., Bendahan, D., Laing, N. G., Bryson-Richardson, R. J., Gondin, J. & Nowak, K. J., 31 Jul 2018, In : Scientific Reports. 8, 12 p., 11490.

Research output: Contribution to journalArticle

Open Access
4 Citations (Scopus)
2013

Mutations in CYC1, encoding cytochrome c1 subunit of respiratory chain complex III, cause insulin-responsive hyperglycemia

Gaignard, P., Menezes, M., Schiff, M., Bayot, A., Rak, M., Ogier De Baulny, H., Su, C-H., Gilleron, M., Lombes, A., Abida, H., Tzagoloff, A., Riley, L., Cooper, S. T., Mina, K., Sivadorai, P., Davis, M. R., Allcock, R., Kresoje, N., Laing, N., Thorburn, D. R. & 3 othersSlama, A., Christodoulou, J. & Rustin, P., 2013, In : American Journal of Human Genetics. 93, p. 384-389

Research output: Contribution to journalArticle

Open Access
28 Citations (Scopus)

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

Ravenscroft, G., Thompson, E. M., Todd, E., Yau, K. S., Kresoje, N., Sivadorai, P., Friend, K., Riley, K., Manton, N. D., Blumbergs, P., Fietz, M., Duff, R., Davis, M. R., Allcock, R. & Laing, N., 2013, In : Neuromuscular Disorders. 23, p. 165-169

Research output: Contribution to journalArticle

22 Citations (Scopus)

K7del is a common TPM2 gene mutation associated with nemaline myopathy and raised myofibre calcium sensitivity

Mokbel, N., Ilkovski, B., Kreissl, M., Memo, M., Jeffries, C. M., Marttila, M., Lehtokari, V-L., Lemola, E., Grönholm, M., Yang, N., Menard, D., Marcorelles, P., Echaniz-Laguna, A., Reimann, J., Vainzof, M., Monnier, N., Ravenscroft, G., McNamara, E., Nowak, K., Laing, N. & 6 othersWallgren-Pettersson, C., Trewhella, J., Marston, S., Ottenheijm, C., North, K. N. & Clarke, N. F., 2013, In : Brain. 136, p. 494-507

Research output: Contribution to journalArticle

Open Access
24 Citations (Scopus)
Open Access
7 Citations (Scopus)
2011
24 Citations (Scopus)
2012

Investigation of NOTCH4 coding region polymorphisms in sporadic inclusion body myositis

Scott, A. P., Laing, N., Mastaglia, F., Dalakas, M., Needham, M. & Allcock, R., 2012, In : Journal of Neuroimmunology. 250, 1-2, p. 66-70

Research output: Contribution to journalArticle

15 Citations (Scopus)
2011

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

Ravenscroft, G., Jackaman, C., Bringans, S., Papadimitriou, J., Griffiths, L. M., Mcnamara, E., Bakker, T., Davies, K. E., Laing, N. & Nowak, K., 2011, In : Brain. 134, p. 1101-1115

Research output: Contribution to journalArticle

43 Citations (Scopus)
2015

A Germline MTOR Mutation in Aboriginal Australian Siblings with Intellectual Disability, Dysmorphism, Macrocephaly, and Small Thoraces

Baynam, G., Overkov, A., Davis, M., Mina, K., Schofield, L., Allcock, R., Laing, N., Cook, M., Dawkins, H. & Goldblatt, J., 2015, In : American Journal of Medical Genetics, Part A. 167, 7, p. 1659-1667

Research output: Contribution to journalArticle

20 Citations (Scopus)

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
4 Citations (Scopus)
205 Downloads (Pure)
2012

Is newborn screening for Duchenne muscular dystrophy ethically justifiable?

Bayley, K. L. & Laing, N., 2012, In : Future Neurology. 7, p. 363-365

Research output: Contribution to journalArticle

2014

Novel Mutations Widen the Phenotypic Spectrum of Slow Skeletal/β-Cardiac Myosin (MYH7) Distal Myopathy

Lamont, P. J., Wallefeld, W., Hilton- Jones, D., Udd, B., Argov, Z., Barboi, A. C., Bonneman, C., Boycott, K. M., Bushby, K. M. D., Connolly, A. M., Davies, N. P., Beggs, A. H., Cox, G. F., Dastgir, J., Dechene, E. T., Gooding, R., Jungbluth, H., Muelas, N., Palmio, J., Penttilä, S. & 10 othersSchmedding, E., Suominen, T., Straub, V. W., Staples, C. I., Van Den Bergh, P. Y. K., Vílchez, J. J., Wagner, K. R., Wheeler, P. G., Wraige, E. A. & Laing, N., Jul 2014, In : Human Mutation. 35, 7, p. 868-879

Research output: Contribution to journalArticle

45 Citations (Scopus)
2019

Expanded reproductive carrier screening-how can we do the most good and cause the least harm?

Delatycki, M. B., Laing, N. & Kirk, E., May 2019, In : European Journal of Human Genetics. 27, 5, p. 669-670 2 p.

Research output: Contribution to journalEditorial

1 Citation (Scopus)
2014

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
53 Citations (Scopus)

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

Ong, R., Alsaman, A. S., Selcen, D., Arabshahi, A., Yau, K., Ravenscroft, G., Duff, R., Atkinson, V., Allcock, R. & Laing, N., 2014, In : Journal of Neurology, Neurosurgery and Psychiatry. 85, 9, p. 1058-1060

Research output: Contribution to journalLetter

10 Citations (Scopus)
2015

Efficacy of next-generation sequencing in molecular diagnosis of archived DNA samples

Beecroft, S., Ong, R., Yau, K., Duff, R., Allcock, R., Davis, M., Lamont, P. & Laing, N., Oct 2015, In : Neuromuscular Disorders. 25, p. S299-S300 2 p.

Research output: Contribution to journalAbstract/Meeting Abstract

2014

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

9 Citations (Scopus)

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

9 Citations (Scopus)
2017

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

2015

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 othersLaing, N., 4 Jun 2015, In : The American Journal of Human Genetics. 96, 6, p. 955-961

Research output: Contribution to journalArticle

Open Access
46 Citations (Scopus)
2011

Actin nemaline myopathy mouse reproduces disease, suggests other Actin Disease phenotypes and provides cautionary note on muscle transgene expression

Ravenscroft, G., Jackaman, C., Sewry, CA., Mcnamara, E., Squire, SE., Potter, AC., Papadimitriou, J., Griffiths, LM., Bakker, T., Davies, K., Laing, N. & Nowak, K., 2011, In : PLoS One. 6, 12, p. 1-13

Research output: Contribution to journalArticle

Open Access
20 Citations (Scopus)

Mutations in the N-terminal Actin-Binding Domain of Filamin C Cause a Distal Myopathy

Duff, R., Tay, V., Hackman, P., Ravenscroft, G., Mclean, C., Kennedy, P., Steinbach, A., Schöffler, W., Van Der Ven, P. F. M., Fürst, D. O., Song, J., Dijnović-Carugo, K., Penttilä, S., Raheem, O., Reardon, K., Malandrini, A., Gambelli, S., Villanova, M., Nowak, K., Williams, D. R. & 4 othersLanders, J. E., Brown Jr, R. H., Udd, B. & Laing, N., 2011, In : American Journal of Human Genetics. 88, p. 1-6

Research output: Contribution to journalArticle

Open Access
69 Citations (Scopus)
2018

Bi-allelic mutations in MYL1 cause a severe congenital myopathy

Ravenscroft, G., Zaharieva, I. T., Bortolotti, C. A., Lambrughi, M., Pignataro, M., Borsari, M., Sewry, C. A., Phadke, R., Haliloglu, G., Ong, R., Goullée, H., Whyte, T., Consortium, U. K., Manzur, A., Talim, B., Kaya, U., Osborn, D. P. S., Forrest, A. R. R., Laing, N. G. & Muntoni, F., 15 Dec 2018, In : Human Molecular Genetics. 27, 24, p. 4263-4272 10 p.

Research output: Contribution to journalArticle

Open Access
File
5 Citations (Scopus)
223 Downloads (Pure)
2017

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

6 Citations (Scopus)
2011

Nemaline Myopathies

Wallgren-Pettersson, C., Sewry, C. A., Nowak, K. & Laing, N., 2011, In : SEMINARS IN PEDIATRIC NEUROLOGY. 18, p. 230-238

Research output: Contribution to journalArticle

97 Citations (Scopus)
2020

Significant out-of-sample classification from methylation profile scoring for amyotrophic lateral sclerosis

Nabais, M. F., Lin, T., Benyamin, B., Williams, K. L., Garton, F. C., Vinkhuyzen, A. A. E., Zhang, F., Vallerga, C. L., Restuadi, R., Freydenzon, A., Zwamborn, R. A. J., Hop, P. J., Robinson, M. R., Gratten, J., Visscher, P. M., Hannon, E., Mill, J., Brown, M. A., Laing, N. G., Mather, K. A. & 17 othersSachdev, P. S., Ngo, S. T., Steyn, F. J., Wallace, L., Henders, A. K., Needham, M., Veldink, J. H., Mathers, S., Nicholson, G., Rowe, D. B., Henderson, R. D., McCombe, P. A., Pamphlett, R., Yang, J., Blair, I. P., McRae, A. F. & Wray, N. R., 27 Feb 2020, In : npj Genomic Medicine. 5, 1, 9 p., 10.

Research output: Contribution to journalArticle

Open Access
2018

A novel MYH7 founder mutation causing Laing distal myopathy in Southern Spain

Carbonell-Corvillo, P., Tristán-Clavijo, E., Cabrera-Serrano, M., Servián-Morilla, E., García-Martín, G., Villarreal-Pérez, L., Rivas-Infante, E., Area-Gómez, E., Chamorro-Muñoz, M. I., Gil-Gálvez, A., Miranda-Vizuete, A., Martinez-Mir, A., Laing, N. & Paradas, C., 1 Oct 2018, In : Neuromuscular Disorders. 28, 10, p. 828-836 9 p.

Research output: Contribution to journalArticle

Open Access
File
1 Citation (Scopus)
60 Downloads (Pure)
2017

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
9 Citations (Scopus)
2019

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

Sedghi, M., Moslemi, A. R., Olive, M., Etemadifar, M., Ansari, B., Nasiri, J., Emrahi, L., Mianesaz, H. R., Laing, N. G. & Tajsharghi, H., 27 Sep 2019, In : Annals of Clinical and Translational Neurology.

Research output: Contribution to journalArticle

Open Access
2 Citations (Scopus)
2018

Ryanodine receptor type 3 (RYR3) as a novel gene associated with a myopathy with nemaline bodies

Nilipour, Y., Nafissi, S., Tjust, A. E., Ravenscroft, G., Hossein Nejad Nedai, H., Taylor, R. L., Varasteh, V., Pedrosa Domellöf, F., Zangi, M., Tonekaboni, S. H., Olivé, M., Kiiski, K., Sagath, L., Davis, M. R., Laing, N. G. & Tajsharghi, H., 1 Jun 2018, In : European Journal of Neurology. 25, 6, p. 841-847 7 p.

Research output: Contribution to journalArticle

8 Citations (Scopus)
2016

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 othersFiahlo, 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
14 Citations (Scopus)
261 Downloads (Pure)
2018

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

Open Access
12 Citations (Scopus)
2017

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 othersClaeys, 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
143 Citations (Scopus)
2018

Genetics of neuromuscular fetal akinesia in the genomics era

Beecroft, S. J., Lombard, M., Mowat, D., McLean, C., Cairns, A., Davis, M., Laing, N. G. & Ravenscroft, G., 1 Aug 2018, In : Journal of Medical Genetics. 55, 8, p. 505-514 10 p.

Research output: Contribution to journalReview article

9 Citations (Scopus)
2015

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
8 Citations (Scopus)
178 Downloads (Pure)
2017

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

5 Citations (Scopus)
2014

Novel CHKB mutation expands the megaconial muscular dystrophy phenotype

Cabrera-Serrano, M., Junckerstorff, R., Atkinson, V., Sivadorai, P., Allcock, R., Lamont, P. J. & Laing, N., 2014, In : Muscle and Nerve. 51, 1, p. 140-143

Research output: Contribution to journalArticle

9 Citations (Scopus)
2016

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

18 Citations (Scopus)

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 othersLek, 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
11 Citations (Scopus)
2012
Open Access
20 Citations (Scopus)
2014

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 othersEstournet-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
140 Citations (Scopus)
2017
Open Access
File
2 Citations (Scopus)
414 Downloads (Pure)
2019

A CMT family with AD and AR inheritance of a MME variant

Ravenscroft, G., Ong, R., Laing, N. & Lamont, P., Oct 2019, In : Neuromuscular Disorders. 29, p. S201-S201 1 p.

Research output: Contribution to journalAbstract/Meeting Abstract

2011

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

Saito, Y., Komaki, H., Hattori, A., Takeuchi, F., Sasaki, M., Kawabata, K., Mitsuhashi, S., Tominaga, K., Hayashi, Y. K., Nowak, K. J., Laing, N. G., Nonaka, I. & Nishino, I., 2011, In : Neuromuscular Disorders. 21, 7, p. 489-493

Research output: Contribution to journalArticle

5 Citations (Scopus)
2015

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 othersOttenheijm, 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
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17 Citations (Scopus)
214 Downloads (Pure)
2012

Consensus Statement on Standard of Care for Congenital Myopathies

Wang, C. H., Dowling, J. J., North, K., Schroth, M. K., Sejersen, T., Shapiro, F., Bellini, J., Weiss, H., Guillet, M., Amburgey, K., Apkon, S., Bertini, E., Bonnemann, C., Clarke, N., Connolly, A. M., Estournet-Mathiaud, B., Fitzgerald, D., Florence, J. M., Gee, R., Gurgel-Giannetti, J. & 14 othersGlanzman, A. M., Hofmeister, B., Jungbluth, H., Koumbourlis, A. C., Laing, N., Main, M., Morrison, L. A., Munns, C., Rose, K., Schuler, P. M., Sewry, C., Storhaug, K., Vainzof, M. & Yuan, N., 2012, In : Journal of Child Neurology. 27, p. 363-382

Research output: Contribution to journalArticle

76 Citations (Scopus)
2013

Identification of KLHL41 mutations implicates BTB-Kelch-mediated ubiquitination as an alternate pathway to myofibrillar disruption in nemaline myopathy

Gupta, V. A., Ravenscroft, G., Shaheen, R., Todd, E., Swanson, L. C., Shiina, M., Ogata, K., Hsu, C., Clarke, N. F., Darras, B. T., Farrar, M. A., Hashem, A., Manton, N. D., Muntoni, F., North, K. N., Sandaradura, S. A., Nishino, I., Hayashi, Y. K., Sewry, C. A., Thompson, E. M. & 10 othersYau, K., Brownstein, C. A., Yu, T. W., Allcock, R., Davis, M. R., Wallgren-Pettersson, C., Matsumoto, N., Alkuraya, F. S., Laing, N. & Beggs, A. H., 2013, In : American Journal of Human Genetics. 93, p. 1108-1117

Research output: Contribution to journalArticle

Open Access
89 Citations (Scopus)
2019

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

Kariminejad, A., Dahl-Halvarsson, M., Ravenscroft, G., Afroozan, F., Keshavarz, E., Zonooz, M. F., Najmabadi, H., Goullee, H., Davis, M., Laing, N. & Tajsharghi, H., Jul 2019, In : European Journal of Human Genetics. 27, p. 314-314 1 p.

Research output: Contribution to journalAbstract/Meeting Abstract