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

    6009 Perth

    Australia

  • 13121 Citations
  • 55 h-Index
1992 …2021
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Personal profile

Keywords

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

Fingerprint Fingerprint is based on mining the text of the person's scientific documents to create an index of weighted terms, which defines the key subjects of each individual researcher.

  • 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
Distal Myopathies Medicine & Life Sciences

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

Projects 1996 2021

Research Output 1992 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

Distal Myopathies
Spain
Mutation
MM Form Creatine Kinase
Muscles

Bi-allelic mutations in MYL1 cause a severe congenital myopathy

UK10K Consortium, 12 Sep 2018, In : Human Molecular Genetics.

Research output: Contribution to journalArticle

Myotonia Congenita
Skeletal Muscle
Myosin Light Chains
Mutation
Exome

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

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

Coote, D. J., Davis, M. R., Cabrera, M., Needham, M., Laing, N. G. & Nowak, K. J., 1 Jul 2018, In : European Journal of Human Genetics. 26, 7, p. 1072-1077 6 p.

Research output: Contribution to journalArticle

Open Access

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