Research output per year
Research output per year
Research output
- 7 Article
Search results
-
2020
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 18.Research output: Contribution to journal › Article › peer-review
Open Access8 Citations (Scopus) -
Ovine congenital progressive muscular dystrophy (OCPMD) is a model of TNNT1 congenital myopathy
Clayton, J. S., McNamara, E. L., Goullee, H., Conijn, S., Muthsam, K., Musk, G. C., Coote, D., Kijas, J., Testa, A. C., Taylor, R. L., O'Hara, A. J., Groth, D., Ottenheijm, C., Ravenscroft, G., Laing, N. G. & Nowak, K. J., 20 Aug 2020, In: Acta Neuropathologica Communications. 8, 1, 1 p., 142.Research output: Contribution to journal › Article › peer-review
Open Access5 Citations (Scopus) -
2018
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 journal › Article › peer-review
Open Access3 Citations (Scopus) -
Clinical utility gene card for McArdle disease
Taylor, R. L., Davis, M., Turner, E., Brull, A., Pinos, T., Cabrera, M. & Nowak, K. J., 1 May 2018, In: European Journal of Human Genetics. 26, 5, p. 758-764 7 p.Research output: Contribution to journal › Article › peer-review
Open Access4 Citations (Scopus) -
2017
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., 1 Sept 2017, In: G3: Genes, Genomes, Genetics. 7, 9, p. 2999-3017 19 p.Research output: Contribution to journal › Article › peer-review
Open AccessFile8 Citations (Scopus)347 Downloads (Pure) -
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., Oct 2017, In: Biochimica et Biophysica Acta: international journal of biochemistry and biophysics. 1860, 10, p. 1025-1036 12 p.Research output: Contribution to journal › Article › peer-review
Open AccessFile19 Citations (Scopus)133 Downloads (Pure) -
2016
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, , 3 Nov 2016, In: American Journal of Human Genetics. 99, 5, p. 1086-1105 20 p.Research output: Contribution to journal › Article › peer-review
Open Access45 Citations (Scopus)