Find Research Outputs

Search concepts
Selected filters

Publication Year

  • 2020
  • 2019
  • 2016

Author

  • Nigel Laing
Abstract/Meeting Abstract

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

Childhood-onset spinal muscular' atrophy or juvenile amyotrophic lateral sclerosis without pontocerebellar hypoplasia caused by a novel VRK1 splice variant

Sedghi, M., Moslemi, A., Olive, M., Etemadifar, M., Ansari, B., Nasiri, J., Emrahi, L., Mianesaz, H., Laing, N. & Tajsharghi, H., Oct 2019, In : Neuromuscular Disorders. 29, p. S148-S148 1 p., P.276.

Research output: Contribution to journalAbstract/Meeting Abstract

Diagnosis of fetal akinesia and arthrogryposis by panel sequencing and functional genomics

Ravenscroft, G., Clayton, J., Faiz, F., Milnes, D., Cincotta, R., Moon, P., McGrath, P., Colley, A., Chao, K., Laing, N. & Davis, M., Oct 2019, In : Neuromuscular Disorders. 29, p. S119-S119 1 p.

Research output: Contribution to journalAbstract/Meeting Abstract

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

Article

Altered myogenesis and premature senescence underlie human TRIM32-related myopathy

Servián-Morilla, E., Cabrera-Serrano, M., Rivas-Infante, E., Carvajal, A., Lamont, P. J., Pelayo-Negro, A. L., Ravenscroft, G., Junckerstorff, R., Dyke, J. M., Fletcher, S., Adams, A. M., Mavillard, F., Fernández-García, M. A., Nieto-González, J. L., Laing, N. G. & Paradas, C., 1 Mar 2019, In : Acta Neuropathologica Communications. 7, 1, 1 p.

Research output: Contribution to journalArticle

Open Access

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
13 Citations (Scopus)

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
15 Citations (Scopus)
287 Downloads (Pure)

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

19 Citations (Scopus)

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

5 Citations (Scopus)

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

Mc Glacken-Byrne, A. B., Prentice, D., Roshandel, D., Brown, M. R., Tuch, P., Yau, K. S. Y., Sivadorai, P., Davis, M. R., Laing, N. G. & Chen, F. K., 24 Feb 2020, In : BMC Ophthalmology. 20, 1, 68.

Research output: Contribution to journalArticle

Open Access

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
54 Citations (Scopus)

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
4 Citations (Scopus)

Myoglobinopathy is an adult-onset autosomal dominant myopathy with characteristic sarcoplasmic inclusions

Olivé, M., Engvall, M., Ravenscroft, G., Cabrera-Serrano, M., Jiao, H., Bortolotti, C. A., Pignataro, M., Lambrughi, M., Jiang, H., Forrest, A. R. R., Benseny-Cases, N., Hofbauer, S., Obinger, C., Battistuzzi, G., Bellei, M., Borsari, M., Di Rocco, G., Viola, H. M., Hool, L. C., Cladera, J. & 24 others, Lagerstedt-Robinson, K., Xiang, F., Wredenberg, A., Miralles, F., Baiges, J. J., Malfatti, E., Romero, N. B., Streichenberger, N., Vial, C., Claeys, K. G., Straathof, C. S. M., Goris, A., Freyer, C., Lammens, M., Bassez, G., Kere, J., Clemente, P., Sejersen, T., Udd, B., Vidal, N., Ferrer, I., Edström, L., Wedell, A. & Laing, N. G., 1 Dec 2019, In : Nature Communications. 10, 1, 1396.

Research output: Contribution to journalArticle

Open Access
1 Citation (Scopus)

Nebulin nemaline myopathy recapitulated in a compound heterozygous mouse model with both a missense and a nonsense mutation in Neb

Laitila, J. M., McNamara, E. L., Wingate, C. D., Goullee, H., Ross, J. A., Taylor, R. L., van der Pijl, R., Griffiths, L. M., Harries, R., Ravenscroft, G., Clayton, J. S., Sewry, C., Lawlor, M. W., Ottenheijm, C. A. C., Bakker, A. J., Ochala, J., Laing, N. G., Wallgren-Pettersson, C., Pelin, K. & Nowak, K. J., 17 Feb 2020, In : Acta Neuropathologica Communications. 8, 1, p. 18

Research output: Contribution to journalArticle

Open Access

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

Bryen, S. J., Joshi, H., Evesson, F. J., Girard, C., Ghaoui, R., Waddell, L. B., Testa, A. C., Cummings, B., Arbuckle, S., Graf, N., Webster, R., MacArthur, D. G., Laing, N. G., Davis, M. R., Lührmann, R. & Cooper, S. T., 5 Sep 2019, In : American Journal of Human Genetics. 105, 3, p. 573-587 15 p.

Research output: Contribution to journalArticle

Open Access
File
30 Downloads (Pure)

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

Delatycki, M. B., Laing, N. G., Moore, S. J., Emery, J., Archibald, A. D., Massie, J. & Kirk, E. P., Mar 2019, In : Australian journal of general practice. 48, 3, p. 106-110 5 p.

Research output: Contribution to journalArticle

4 Citations (Scopus)

Recessive MYH7-related myopathy in two families

Beecroft, S. J., van de Locht, M., de Winter, J. M., Ottenheijm, C. A., Sewry, C. A., Mohammed, S., Ryan, M. M., Woodcock, I. R., Sanders, L., Gooding, R., Davis, M. R., Oates, E. C., Laing, N. G., Ravenscroft, G., McLean, C. A. & Jungbluth, H., Jun 2019, In : Neuromuscular Disorders. 29, 6, p. 456-467 12 p.

Research output: Contribution to journalArticle

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

22 Citations (Scopus)

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 others, Sachdev, 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
Open Access

Systemic AAV8-mediated delivery of a functional copy of muscle glycogen phosphorylase (Pygm ) ameliorates disease in a murine model of McArdle disease

McNamara, E. L., Taylor, R. L., Clayton, J. S., Goullee, H., Dilworth, K. L., Pinós, T., Brull, A., Alexander, I. E., Lisowski, L., Ravenscroft, G., Laing, N. G. & Nowak, K. J., 1 Jan 2020, In : Human Molecular Genetics. 29, 1, p. 20-30 11 p.

Research output: Contribution to journalArticle

Targeted gene panel use in 2249 neuromuscular patients: the Australasian referral center experience

Beecroft, S. J., Yau, K. S., Allcock, R. J. N., Mina, K., Gooding, R., Faiz, F., Atkinson, V. J., Wise, C., Sivadorai, P., Trajanoski, D., Kresoje, N., Ong, R., Duff, R. M., Cabrera-Serrano, M., Nowak, K. J., Pachter, N., Ravenscroft, G., Lamont, P. J., Davis, M. R. & Laing, N. G., 9 Mar 2020, In : Annals of Clinical and Translational Neurology.

Research output: Contribution to journalArticle

Open Access

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

24 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 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
11 Citations (Scopus)
Chapter

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

Comment/debate

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
Editorial

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

2 Citations (Scopus)
Review article

International perspectives on the implementation of reproductive carrier screening

Delatycki, M. B., Alkuraya, F., Archibald, A., Castellani, C., Cornel, M., Grody, W. W., Henneman, L., Ioannides, A. S., Kirk, E., Laing, N., Lucassen, A., Massie, J., Schuurmans, J., Thong, M-K., van Langen, I. & Zlotogora, J., 29 Nov 2019, In : Prenatal Diagnosis. 10 p.

Research output: Contribution to journalReview article