Outputs (78)

Gene editing restores dystrophin expression in a canine model of Duchenne muscular dystrophy (2018)
Journal Article
Amoasii, L., Hildyard, J. C. W., Li, H., Sanchez-Ortiz, E., Mireault, A., Caballero, D., …Olson, E. N. (2018). Gene editing restores dystrophin expression in a canine model of Duchenne muscular dystrophy. Science, 362(6410), 86-91. https://doi.org/10.1126/science.aau1549

Mutations in the gene encoding dystrophin, a protein that maintains muscle integrity and function, cause Duchenne muscular dystrophy (DMD). The deltaE50-MD dog model of DMD harbors a mutation corresponding to a mutational “hotspot” in the human DMD g... Read More about Gene editing restores dystrophin expression in a canine model of Duchenne muscular dystrophy.

Detection of equine atypical myopathy-associated hypoglycin A in plant material: Optimisation and validation of a novel LC-MS based method without derivatisation (2018)
Journal Article
González-Medina, S., Hyde, C., Lovera, I., & Piercy, R. J. (2018). Detection of equine atypical myopathy-associated hypoglycin A in plant material: Optimisation and validation of a novel LC-MS based method without derivatisation. PLoS ONE, 13(7), e0199521. https://doi.org/10.1371/journal.pone.0199521

Hypoglycin A (HGA) toxicity, following ingestion of material from certain plants, is linked to an acquired multiple acyl-CoA dehydrogenase deficiency known as atypical myopathy, a commonly fatal form of equine rhabdomyolysis seen worldwide. Whilst so... Read More about Detection of equine atypical myopathy-associated hypoglycin A in plant material: Optimisation and validation of a novel LC-MS based method without derivatisation.

Pathological classification of equine recurrent laryngeal neuropathy (2018)
Journal Article
Draper, A. C. E., & Piercy, R. J. (2018). Pathological classification of equine recurrent laryngeal neuropathy. Journal of Veterinary Internal Medicine, 32(4), 1397-1409. https://doi.org/10.1111/jvim.15142

Recurrent Laryngeal Neuropathy (RLN) is a highly prevalent and predominantly left‐sided, degenerative disorder of the recurrent laryngeal nerves (RLn) of tall horses, that causes inspiratory stridor at exercise because of intrinsic laryngeal muscle p... Read More about Pathological classification of equine recurrent laryngeal neuropathy.

Kinematic discrimination of ataxia in horses is facilitated by blindfolding (2018)
Journal Article
Olsen, E., Fouche, N., Jordan, H., Pfau, T., & Piercy, R. J. (2018). Kinematic discrimination of ataxia in horses is facilitated by blindfolding. Equine Veterinary Journal, 50(2), 166-171. https://doi.org/10.1111/evj.12737

Arthroscopic treatment for cervical articular process joint osteochondrosis in a Thoroughbred horse (2018)
Journal Article
Tucker, R., Piercy, R. J., Dixon, J. J., Muir, C. F., Smith, K. C., Potter, K. E., …Smith, R. K. W. (2018). Arthroscopic treatment for cervical articular process joint osteochondrosis in a Thoroughbred horse. Equine Veterinary Education, 30(3), 116-121. https://doi.org/10.1111/eve.12610

A yearling Thoroughbred colt was presented for investigation of neck stiffness and episodes of intermittent neck pain without neurological signs. Osteochondrosis (OCD) of the cervical articular process joints (APJs) was diagnosed with the aid of radi... Read More about Arthroscopic treatment for cervical articular process joint osteochondrosis in a Thoroughbred horse.

Whole genome sequencing reveals a 7 base-pair deletion in DMD exon 42 in a dog with muscular dystrophy (2017)
Journal Article
Nghiem, P. P., Bello, L., Balog-Alvarez, C., López, S. M., Bettis, A., Barnett, H., …Kornegay, J. N. (2017). Whole genome sequencing reveals a 7 base-pair deletion in DMD exon 42 in a dog with muscular dystrophy. Mammalian Genome, 28(3), 106-113. https://doi.org/10.1007/s00335-016-9675-2

Progressive Structural Defects in Canine Centronuclear Myopathy Indicate a Role for HACD1 in Maintaining Skeletal Muscle Membrane Systems (2017)
Journal Article
Walmsley, G. L., Blott, S., Venner, K., Sewry, C., Laport, J., Blondelle, J., …Piercy, R. J. (2017). Progressive Structural Defects in Canine Centronuclear Myopathy Indicate a Role for HACD1 in Maintaining Skeletal Muscle Membrane Systems. American Journal of Pathology, 187(2), 441-456. https://doi.org/10.1016/j.ajpath.2016.10.002

Mutations in HACD1/PTPLA cause recessive congenital myopathies in humans and dogs. Hydroxyacyl-coA dehydratases are required for elongation of very long chain fatty acids, and HACD1 has a role in early myogenesis, but the functions of this striated m... Read More about Progressive Structural Defects in Canine Centronuclear Myopathy Indicate a Role for HACD1 in Maintaining Skeletal Muscle Membrane Systems.

A highly prevalent equine glycogen storage disease is explained by constitutive activation of a mutant glycogen synthase (2017)
Journal Article
Maile, C. A., Hingst, J. R., Mahalingan, K. K., O'Reilly, A. O., Cleasby, M. E., Mickelson, J. R., …Piercy, R. J. (2017). A highly prevalent equine glycogen storage disease is explained by constitutive activation of a mutant glycogen synthase. https://doi.org/10.1016/j.bbagen.2016.08.021

Dantrolene as a possible prophylactic treatment for RYR1-related rhabdomyolysis (2016)
Journal Article
Scalco, R. S., Voermans, N. C., Piercy, R. J., Jungbluth, H., & Quinlivan, R. (2016). Dantrolene as a possible prophylactic treatment for RYR1-related rhabdomyolysis. European Journal of Neurology, 23(8), e56-e57. https://doi.org/10.1111/ene.13051

Equine atypical myopathy associated with sycamore seed ingestion in a Przewalski foal (2016)
Journal Article
Molenaar, F. M., Piercy, R. J., Dunkel, B., Manning, N., English, K., Stidworthy, M., & Masters, N. J. (2016). Equine atypical myopathy associated with sycamore seed ingestion in a Przewalski foal. https://doi.org/10.19227/jzar.v4i2.156

One of the 172 UK cases of equine atypical myopathy (EAM) reported to the Atypical Myopathy Alert Group (AMAG) in 2014 was that of a five-month old male Przewalski horse (Equus ferus przewalskii), resident at ZSL Whipsnade Zoo, UK. The foal presented... Read More about Equine atypical myopathy associated with sycamore seed ingestion in a Przewalski foal.