Mutational spectrum of the CHAC gene in patients with chorea-acanthocytosis

Autor: Klaus Schmierer, Masami Shizuka, Antonio Federico, Jens Volkmann, Carlos Singer, Mitchell F. Brin, R Dengler, G Sorrentino, Meiner, Jan O. Aasly, Saeed Bohlega, Guy A. Rouleau, Nicolas Dupré, Y Ikeda, Nicholas W. Wood, IR Caballero, BI Karp, Sylvain Chouinard, FC Mercado, P. C. Trevisol-Bittencourt, Paul Maddison, Andrea H. Németh, Igor Sibon, J Arpa, Anthony P. Monaco, Lev G. Goldfarb, Mitsunori Watanabe, A Storch, M. T. Dotti, LP Hiersemenzel, S Johnson, Adrian Danek, R M Chalmers, G Geraud, M Tanaka, RJ Hardie, Luca Rampoldi, A J Lees, Alexander Lossos, Saidi A Mohiddin, Lameh Fananapazir, Massimo Zeviani, Carol Dobson-Stone, Alan Fryer

Chorea-acanthocytosis (ChAc) is an autosomal recessive neurological disorder whose characteristic features include hyperkinetic movements and abnormal red blood cell morphology. Mutations in the CHAC gene on 9q21 were recently found to cause chorea-a

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b604f79ba9ee6e640b9f9de2a752807f
https://ora.ox.ac.uk/objects/uuid:3b1ebcfc-3452-49c2-9bc1-df31e1cc6ccb

Brain biopsy in benign neurological disease

Autor: Neil J Scolding, Richard J. Edwards, Seth Love, Claire M Rice, RJ Hardie, Catherine Gilkes

Publikováno v: Journal of neurology. 259(5)

Brain biopsy is well established in clinical practice when there is suspicion of CNS malignancy. However, there is little consensus regarding the indications for brain biopsy in non-malignant neurological disease. This is due in no small part to limi

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2402cabafa12ea4114abb3e7c0a40322
https://pubmed.ncbi.nlm.nih.gov/22361977

Brain biopsy in neurological disease

Autor: Claire Rice, Ce, Gilkes, Teare, E., Rj, Hardie, Neil Scolding, Rj, Edwards

Publikováno v: University of Bristol-PURE

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::179fd04b470e04a54daa77b71c84f911
https://research-information.bris.ac.uk/en/publications/b0ee8b5d-d774-4897-9f18-2627b06a264b

Lymphaticovenous anastomosis of the caudal thoracic duct to the azygous vein: A feline cadaver study.

Autor: Davies GF; Department of Surgical Sciences, School of Veterinary Medicine, University of Wisconsin-Madison, Madison, Wisconsin, USA., Hardie RJ; Department of Surgical Sciences, School of Veterinary Medicine, University of Wisconsin-Madison, Madison, Wisconsin, USA., Wild JL; Department of Surgical Sciences, School of Veterinary Medicine, University of Wisconsin-Madison, Madison, Wisconsin, USA., Loeber SJ; Department of Surgical Sciences, School of Veterinary Medicine, University of Wisconsin-Madison, Madison, Wisconsin, USA.

Publikováno v: Veterinary surgery : VS [Vet Surg] 2024 Oct; Vol. 53 (7), pp. 1231-1238. Date of Electronic Publication: 2024 Jul 25.

Computed tomographic findings in a canine ovarian teratoma.

Autor: Radtke AV; School of Veterinary Medicine, University of Wisconsin - Madison, Madison, Wisconsin, USA., Jorge KM; School of Veterinary Medicine, University of Wisconsin - Madison, Madison, Wisconsin, USA., Townsend AM; School of Veterinary Medicine, University of Wisconsin - Madison, Madison, Wisconsin, USA., Hardie RJ; School of Veterinary Medicine, University of Wisconsin - Madison, Madison, Wisconsin, USA., Jones K; School of Veterinary Medicine, University of Wisconsin - Madison, Madison, Wisconsin, USA., Yap SW; School of Veterinary Medicine, University of Wisconsin - Madison, Madison, Wisconsin, USA.

Publikováno v: Veterinary radiology & ultrasound : the official journal of the American College of Veterinary Radiology and the International Veterinary Radiology Association [Vet Radiol Ultrasound] 2024 Jan; Vol. 65 (1), pp. 45-48. Date of Electronic Publication: 2023 Dec 22.