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Allele Copy Number and Underlying Pathology Are Associated with Subclinical Severity in Equine Type 1 Polysaccharide Storage Myopathy (PSSM1)
Journal Article
Naylor, R. J., Livesey, L., Schumacher, J., Henke, N., Massey, C. A., Brock, K. V., Fernandez-Fuente, M., & Piercy, R. J. (in press). Allele Copy Number and Underlying Pathology Are Associated with Subclinical Severity in Equine Type 1 Polysaccharide Storage Myopathy (PSSM1). PLoS ONE, 7(7), e42317. https://doi.org/10.1371/journal.pone.0042317

Equine type 1 polysaccharide storage myopathy (PSSM1), a common glycogenosis associated with an R309H founder mutation in the glycogen synthase 1 gene (GYS1), shares pathological features with several human myopathies. In common with related human di... Read More about Allele Copy Number and Underlying Pathology Are Associated with Subclinical Severity in Equine Type 1 Polysaccharide Storage Myopathy (PSSM1).

Clinical application of multidetector computed tomography and magnetic resonance imaging for evaluation of cranial nerves in horses in comparison with high resolution imaging standards
Journal Article
Dixon, J., Lam, R., Weller, R., Manso-Diaz, G., Smith, M., & Piercy, R. J. Clinical application of multidetector computed tomography and magnetic resonance imaging for evaluation of cranial nerves in horses in comparison with high resolution imaging standards. Equine Veterinary Education, https://doi.org/10.1111/eve.12629

Asymmetric recurrent laryngeal nerve conduction velocities and dorsal cricoarytenoid muscle electromyographic characteristics in clinically normal horses
Journal Article
Cercone, M., Hokanson, C. M., Olsen, E., Ducharme, N. G., Mitchell, L. M., Piercy, R. J., & Cheetham, J. (in press). Asymmetric recurrent laryngeal nerve conduction velocities and dorsal cricoarytenoid muscle electromyographic characteristics in clinically normal horses. https://doi.org/10.1038/s41598-019-39189-z

The dorsal cricoarytenoid (DCA) muscles, are a fundamental component of the athletic horse’s respiratory system: as the sole abductors of the airways, they maintain the size of the rima glottis which is essential for enabling maximal air intake durin... Read More about Asymmetric recurrent laryngeal nerve conduction velocities and dorsal cricoarytenoid muscle electromyographic characteristics in clinically normal horses.

Determination of qPCR Reference Genes Suitable for Normalizing Gene Expression in a Canine Model of Duchenne Muscular Dystrophy
Journal Article
Hildyard, J. C. W., Taylor-Brown, F. E., Massey, C., Wells, D. J., & Piercy, R. J. (in press). Determination of qPCR Reference Genes Suitable for Normalizing Gene Expression in a Canine Model of Duchenne Muscular Dystrophy. Journal of Neuromuscular Diseases, 5(2), 177-191. https://doi.org/10.3233/JND-170267

Background:Dogs with dystrophin-deficient muscular dystrophy are valuable models of the equivalent human disease, Duchenne Muscular Dystrophy (DMD): unlike the mdx mouse, these animals present a disease severity and progression that closely matches t... Read More about Determination of qPCR Reference Genes Suitable for Normalizing Gene Expression in a Canine Model of Duchenne Muscular Dystrophy.

Investigating the pathology of Emery-Dreifuss muscular dystrophy
Journal Article
Brown, S. C., Piercy, R. J., Muntoni, F., & Sewry, C. A. Investigating the pathology of Emery-Dreifuss muscular dystrophy. Biochemical Society Transactions, 36(Pt 6), 1335-1338. https://doi.org/10.1042/bst0361335

EDMD (Emery-Dreifuss muscular dystrophy) is caused by mutations in either the gene encoding for lamin A/C (LMNA) located at 1q21.2-q21.3 of emerin (EMD) located at Xq28. Autosomal dominant EDMD caused by LMNA mutations is more common than the X-linke... Read More about Investigating the pathology of Emery-Dreifuss muscular dystrophy.

Extreme variability of skeletal and cardiac muscle involvement in patients with mutations in exon 11 of the lamin A/C gene
Journal Article
Mercuri, E., Brown, S. C., Nihoyannopoulos, P., Poulton, J., Kinali, M., Richard, P., Piercy, R. J., Messina, S., Sewry, C., Burke, M. M., McKenna, W., Bonne, G., & Muntoni, F. Extreme variability of skeletal and cardiac muscle involvement in patients with mutations in exon 11 of the lamin A/C gene. Muscle & Nerve, 31(5), 602-609. https://doi.org/10.1002/mus.20293

Novel diabetes mellitus treatment: mature canine insulin production by canine striated muscle through gene therapy
Journal Article
Niessen, S. J. M., Fernandez-Fuente, M., Mahmoud, A., Campbell, S. C., Aldibbiat, A., Huggins, C., Brown, A. E., Holder, A. L., Piercy, R. J., Catchpole, B., Shaw, J. A., & Church, D. B. Novel diabetes mellitus treatment: mature canine insulin production by canine striated muscle through gene therapy. Domestic Animal Endocrinology, 43(1), 16-25. https://doi.org/10.1016/j.domaniend.2012.01.006