Desmin immunolocalisation in autosomal dominant Emery-Dreifuss muscular dystrophy
Journal Article
Piercy, R. J., Zhou, H. Y., Feng, L., Pombo, A., Muntoni, F., & Brown, S. C. Desmin immunolocalisation in autosomal dominant Emery-Dreifuss muscular dystrophy. Neuromuscular Disorders, 17(4), 297-305. https://doi.org/10.1016/j.nmd.2007.01.003
All Outputs (78)
Estimated prevalence of the Type 1 Polysaccharide Storage Myopathy mutation in selected North American and European breeds
Journal Article
McCue, M. E., Anderson, S. M., Valberg, S. J., Piercy, R. J., Barakzai, S. Z., Binns, M. M., …Mickelson, J. R. Estimated prevalence of the Type 1 Polysaccharide Storage Myopathy mutation in selected North American and European breeds. Animal Genetics, 41(Supp 2), 145-149. https://doi.org/10.1111/j.1365-2052.2010.02124.x
Histopathology and computed tomography of age-associated degeneration of the equine temporohyoid joint
Journal Article
Naylor, R. J., Perkins, J. D. M., Allen, S. P., Aldred, J., Draper, E., Patterson-Kane, J. C., & Piercy, R. J. Histopathology and computed tomography of age-associated degeneration of the equine temporohyoid joint. Equine Veterinary Journal, 42(5), 425-30. https://doi.org/10.1111/j.2042-3306.2010.00036.x
Equine degenerative myeloencephalopathy in a horse in the UK
Journal Article
Naylor, R. J., Priestnall, S. L., Turk, A. C., Summers, B. A., Schoeniger, S. J., & Piercy, R. J. Equine degenerative myeloencephalopathy in a horse in the UK. Veterinary Record, 167(10), 380-1. https://doi.org/10.1136/vr.c3818
Three-dimensional biomechanics of simulated laryngeal abduction in horses
Journal Article
Perkins, J. D. M., Raffetto, J., Thompson, C., Weller, R., Piercy, R. J., & Pfau, T. Three-dimensional biomechanics of simulated laryngeal abduction in horses. American Journal of Veterinary Research, 71(9), 1003-1010. https://doi.org/10.2460/ajvr.71.9.1003
A Duchenne Muscular Dystrophy Gene Hot Spot Mutation in Dystrophin-Deficient Cavalier King Charles Spaniels Is Amenable to Exon 51 Skipping
Journal Article
Walmsley, G. L., Arechavala-Gomeza, V., Fernandez-Fuente, M., Burke, M. M., Nagel, N., Holder, A. L., …Piercy, R. J. A Duchenne Muscular Dystrophy Gene Hot Spot Mutation in Dystrophin-Deficient Cavalier King Charles Spaniels Is Amenable to Exon 51 Skipping. PLoS ONE, 5(1), e8647. https://doi.org/10.1371/journal.pone.0008647
Reduced expression of fukutin related protein in mice results in a model for fukutin related protein associated muscular dystrophies
Journal Article
Ackroyd, M. R., Skordis, L., Kaluarachchi, M., Godwin, J., Prior, S., Fidanboylu, M., …Brown, S. C. Reduced expression of fukutin related protein in mice results in a model for fukutin related protein associated muscular dystrophies. Brain, 132, 439-451. https://doi.org/10.1093/brain/awn335
Inguinal herniation of the large colon in a cob gelding four weeks after castration
Journal Article
Ivens, P. A. S., Piercy, R. J., & Eliashar, E. Inguinal herniation of the large colon in a cob gelding four weeks after castration. Veterinary Record, 165(13), 380-381. https://doi.org/10.1136/vr.165.13.380
Variability of resting endoscopic grading for assessment of recurrent laryngeal neuropathy in horses
Journal Article
Perkins, J. D. M., Salz, R. O., Schumacher, J., Livesey, L., Piercy, R. J., & Barakzai, S. Z. Variability of resting endoscopic grading for assessment of recurrent laryngeal neuropathy in horses. Equine Veterinary Journal, 41(4), 342-346. https://doi.org/10.2746/042516409x423073Reasons for performing study: The extent to which variability affects endoscopic grading of arytenoid cartilage movement is uncertain. Objective: To determine the observer and within horse variability of grading arytenoid cartilage movement in horses... Read More about Variability of resting endoscopic grading for assessment of recurrent laryngeal neuropathy in horses.
Muscular dystrophy in Cavalier King Charles spaniels
Journal Article
Piercy, R. J., & Walmsley, G. Muscular dystrophy in Cavalier King Charles spaniels. Veterinary Record, 165(2), 62-62
Storage-associated artefact in equine muscle biopsy samples
Journal Article
Stanley, R. L., Maile, C., & Piercy, R. J. Storage-associated artefact in equine muscle biopsy samples. Equine Veterinary Journal, 41(1), 82-86. https://doi.org/10.2746/042516408x330374Reasons for performing study: Muscle biopsy is increasingly used in equine veterinary practice for investigating exertional, inflammatory or immune mediated myopathies and unexplained muscle atrophy. Although formalin-fixed samples are often used, fo... Read More about Storage-associated artefact in equine muscle biopsy samples.
A glycogen synthase 1 mutation associated with equine polysaccharide storage myopathy and exertional rhabdomyolysis occurs in a variety of UK breeds
Journal Article
Stanley, R. L., McCue, M. E., Valberg, S. J., Mickelson, J. R., Mayhew, I. G., McGowan, C., …Piercy, R. J. A glycogen synthase 1 mutation associated with equine polysaccharide storage myopathy and exertional rhabdomyolysis occurs in a variety of UK breeds. Equine Veterinary Journal, 41(6), 597-601. https://doi.org/10.2746/042516409x407611
Heritability of Recurrent Exertional Rhabdomyolysis in Standardbred and Thoroughbred Racehorses Derived From SNP Genotyping Data
Journal Article
Norton, E. M., Mickelson, J. R., Binns, M. M., Blott, S. C., Caputo, P., Isgren, C. M., …McCue, M. E. (in press). Heritability of Recurrent Exertional Rhabdomyolysis in Standardbred and Thoroughbred Racehorses Derived From SNP Genotyping Data. Journal of Heredity, 107(6), 537-43. https://doi.org/10.1093/jhered/esw042
Equine atypical myopathy in the UK: Epidemiological characteristics of cases reported from 2011 to 2015 and factors associated with survival
Journal Article
González-Medina, S., Ireland, J. L., Piercy, R. J., Newton, J. R., & Votion, D. M. (in press). Equine atypical myopathy in the UK: Epidemiological characteristics of cases reported from 2011 to 2015 and factors associated with survival. Equine Veterinary Journal, 49(6), 746-752. https://doi.org/10.1111/evj.12694
Disease severity in dominant Emery Dreifuss is increased by mutations in both emerin and desmin proteins
Journal Article
Muntoni, F., Bonne, G., Goldfarb, L. G., Mercuri, E., Piercy, R. J., Burke, M., …Brown, S. C. Disease severity in dominant Emery Dreifuss is increased by mutations in both emerin and desmin proteins. Brain, 129, 1260-1268. https://doi.org/10.1093/brain/awl062
Cerebrospinal fluid collection and its analysis in equine neurological disease
Journal Article
Schwarz, B. C., & Piercy, R. J. Cerebrospinal fluid collection and its analysis in equine neurological disease. Equine Veterinary Education, 18(5), 243-248
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., …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
Biochemical and genetic evaluation of the role of AMP-activated protein kinase in polysaccharide storage myopathy in Quarter Horses
Journal Article
Dranchak, P. K., Leiper, F. C., Valberg, S. J., Piercy, R. J., Carling, D., McCue, M. E., & Mickelson, J. R. Biochemical and genetic evaluation of the role of AMP-activated protein kinase in polysaccharide storage myopathy in Quarter Horses. American Journal of Veterinary Research, 68(10), 1079-1084. https://doi.org/10.2460/ajvr.68.10.1079
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/bst0361335EDMD (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.
Assessment of the transformation of equine skin-derived fibroblasts to multinucleated skeletal myotubes following lentiviral-induced expression of equine myogenic differentiation 1
Journal Article
Fernandez-Fuente, M., Ames, E. G., Wagner, M. L., Zhou, H., Strom, M., Zammit, P. S., …Piercy, R. J. Assessment of the transformation of equine skin-derived fibroblasts to multinucleated skeletal myotubes following lentiviral-induced expression of equine myogenic differentiation 1. American Journal of Veterinary Research, 69(12), 1637-1645. https://doi.org/10.2460/ajvr.69.12.1637Objective - To develop a reliable method for converting cultured equine skin-derived fibroblasts into muscle cells. Sample Population - Equine skin-derived fibroblasts. Procedures - The equine myogenic differentiation 1 (eqMyoD) genomic sequence was... Read More about Assessment of the transformation of equine skin-derived fibroblasts to multinucleated skeletal myotubes following lentiviral-induced expression of equine myogenic differentiation 1.