An ARHGEF10 deletion is highly associated with a juvenile-onset inherited polyneuropathy in Leonberger and Saint Bernard dogs.

by Kari J Ekenstedt, Doreen Becker, Katie M Minor, G Diane Shelton, Edward E Patterson, Tim Bley, Anna Oevermann, Thomas Bilzer, Tosso Leeb, Cord Drögemüller, James R Mickelson
Published 2014-10-01

Centronuclear myopathy in Labrador retrievers: a recent founder mutation in the PTPLA gene has rapidly disseminated worldwide.

by Marie Maurer, Jérôme Mary, Laurent Guillaud, Marilyn Fender, Manuel Pelé, Thomas Bilzer, Natasha Olby, Jacques Penderis, G Diane Shelton, Jean-Jacques Panthier, Jean-Laurent Thibaud, Inès Barthélémy, Geneviève Aubin-Houzelstein, Stéphane Blot, Christophe Hitte, Laurent Tiret
Published 2012-01-01

A Missense Variant in KCNJ10 in Belgian Shepherd Dogs Affected by Spongy Degeneration with Cerebellar Ataxia (SDCA1)

by Nico Mauri, Miriam Kleiter, Michael Leschnik, Sandra Högler, Elisabeth Dietschi, Michaela Wiedmer, Joëlle Dietrich, Diana Henke, Frank Steffen, Simone Schuller, Corinne Gurtner, Nadine Stokar-Regenscheit, Donal O’Toole, Thomas Bilzer, Christiane Herden, Anna Oevermann, Vidhya Jagannathan, Tosso Leeb
Published 2017-02-01

A SINE Insertion in ATP1B2 in Belgian Shepherd Dogs Affected by Spongy Degeneration with Cerebellar Ataxia (SDCA2)

by Nico Mauri, Miriam Kleiter, Elisabeth Dietschi, Michael Leschnik, Sandra Högler, Michaela Wiedmer, Joëlle Dietrich, Diana Henke, Frank Steffen, Simone Schuller, Corinne Gurtner, Nadine Stokar-Regenscheit, Donal O’Toole, Thomas Bilzer, Christiane Herden, Anna Oevermann, Vidhya Jagannathan, Tosso Leeb
Published 2017-08-01