A Missense Mutation in Canine CLN6 in an Australian Shepherd with Neuronal Ceroid Lipofuscinosis

by Martin L. Katz, Fabiana H. Farias, Douglas N. Sanders, Rong Zeng, Shahnawaz Khan, Gary S. Johnson, Dennis P. O'Brien
Published 2011-01-01

International veterinary canine dyskinesia task force ECVN consensus statement: Terminology and classification

by Sofia Cerda‐Gonzalez, Rebecca A. Packer, Laurent Garosi, Mark Lowrie, Paul J. J. Mandigers, Dennis P. O'Brien, Holger A. Volk
Published 2021-05-01

Neuronal Ceroid Lipofuscinosis in a Domestic Cat Associated with a DNA Sequence Variant That Creates a Premature Stop Codon in CLN6

by Martin L. Katz, Reuben M. Buckley, Vanessa Biegen, Dennis P. O’Brien, Gayle C. Johnson, Wesley C. Warren, Leslie A. Lyons
Published 2020-08-01

A novel mutation in CLCN1 associated with feline myotonia congenita.

by Barbara Gandolfi, Rob J Daniel, Dennis P O'Brien, Ling T Guo, Melanie D Youngs, Stacey B Leach, Boyd R Jones, G Diane Shelton, Leslie A Lyons
Published 2014-01-01

An Inversion Disrupting FAM134B Is Associated with Sensory Neuropathy in the Border Collie Dog Breed

by Oliver P. Forman, Rebekkah J. Hitti, Louise Pettitt, Christopher A. Jenkins, Dennis P. O’Brien, G. Diane Shelton, Luisa De Risio, Rodrigo Gutierrez Quintana, Elsa Beltran, Cathryn Mellersh
Published 2016-09-01

A mutation in the Warburg syndrome gene, RAB3GAP1, causes a similar syndrome with polyneuropathy and neuronal vacuolation in Black Russian Terrier dogs

by Tendai Mhlanga-Mutangadura, Gary S. Johnson, Robert D. Schnabel, Jeremy F. Taylor, Gayle C. Johnson, Martin L. Katz, G. Diane Shelton, Teresa E. Lever, Elizabeth Giuliano, Nicolas Granger, Jeremy Shomper, Dennis P. O'Brien
Published 2016-02-01

An ADAMTSL2 founder mutation causes Musladin-Lueke Syndrome, a heritable disorder of beagle dogs, featuring stiff skin and joint contractures.

by Hannah L Bader, Alison L Ruhe, Lauren W Wang, Aaron K Wong, Kari F Walsh, Rebecca A Packer, Jonathan Mitelman, Kathryn R Robertson, Dennis P O'Brien, Karl W Broman, G Diane Shelton, Suneel S Apte, Mark W Neff
Published 2010-09-01

A truncating mutation in ATP13A2 is responsible for adult-onset neuronal ceroid lipofuscinosis in Tibetan terriers

by Fabiana H.G. Farias, Rong Zeng, Gary S. Johnson, Fred A. Wininger, Jeremy F. Taylor, Robert D. Schnabel, Stephanie D. McKay, Douglas N. Sanders, Hannes Lohi, Eija H. Seppälä, Claire M. Wade, Kerstin Lindblad-Toh, Dennis P. O'Brien, Martin L. Katz
Published 2011-06-01

Canine hereditary ataxia in old english sheepdogs and gordon setters is associated with a defect in the autophagy gene encoding RAB24.

by Caryline Agler, Dahlia M Nielsen, Ganokon Urkasemsin, Andrew Singleton, Noriko Tonomura, Snaevar Sigurdsson, Ruqi Tang, Keith Linder, Sampath Arepalli, Dena Hernandez, Kerstin Lindblad-Toh, Joyce van de Leemput, Alison Motsinger-Reif, Dennis P O'Brien, Jerold Bell, Tonya Harris, Steven Steinberg, Natasha J Olby
Published 2014-02-01