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

    6009 Perth

    Australia

  • 14422 Citations
  • 59 h-Index
1992 …2021
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Personal profile

Keywords

  • Neurogenetics
  • Neuromuscular diseases
  • Molecular genetics
  • Gene mapping
  • Gene discovery
  • Genetic therapy

Fingerprint Dive into the research topics where Nigel Laing is active. These topic labels come from the works of this person. Together they form a unique fingerprint.

  • 13 Similar Profiles
Nemaline Myopathies Medicine & Life Sciences
Mutation Medicine & Life Sciences
Genes Medicine & Life Sciences
Actins Medicine & Life Sciences
Myotonia Congenita Medicine & Life Sciences
Skeletal Muscle Medicine & Life Sciences
Muscles Medicine & Life Sciences
Muscular Diseases Medicine & Life Sciences

Network Recent external collaboration on country level. Dive into details by clicking on the dots.

Research Output 1992 2019

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
Muscle Development
Muscular Diseases
Muscles
Bardet-Biedl Syndrome
Mutation
1 Citation (Scopus)

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

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
Vaccinia
Motor Neuron Disease
Phosphotransferases
Genotype
Spinal Muscular Atrophy

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 othersLagerstedt-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
myoglobin
Myoglobin
Muscular Diseases
inclusions
muscles

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

Spliceosomes
RNA Splice Sites
Precision Medicine
Inborn Genetic Diseases
Preventive Medicine

Projects 1996 2021