Shelton, G Diane

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Journal Article

Christen, Matthias; Gregor, Anne; Gutierrez-Quintana, Rodrigo; Bongers, Jos; Rupp, Angie; Penderis, Jacques; Shelton, G Diane; Jagannathan, Vidhya; Zweier, Christiane; Leeb, Tosso (2024). NDUFS7 variant in dogs with Leigh syndrome and its functional validation in a Drosophila melanogaster model. Scientific Reports, 14(2975) Nature Publishing Group 10.1038/s41598-024-53314-7

Letko, Anna; Minor, Katie M; Friedenberg, Steven G; Shelton, G Diane; Salvador, Jill Pesayco; Mandigers, Paul J J; Leegwater, Peter A J; Winkler, Paige A; Petersen-Jones, Simon M; Stanley, Bryden J; Ekenstedt, Kari J; Johnson, Gary S; Hansen, Liz; Jagannathan, Vidya; Mickelson, James R; Drögemüller, Cord (2020). A CNTNAP1 Missense Variant Is Associated with Canine Laryngeal Paralysis and Polyneuropathy. Genes, 11(12) MDPI, Molecular Diversity Preservation International 10.3390/genes11121426

Vernau, Karen M; Struys, Eduard; Letko, Anna; Woolard, Kevin D; Aguilar, Miriam; Brown, Emily A; Cissell, Derek D; Dickinson, Peter J; Shelton, G Diane; Broome, Michael R; Gibson, K Michael; Pearl, Phillip L; König, Florian; Van Winkle, Thomas J; O'Brien, Dennis; Roos, B; Matiasek, Kaspar; Jagannathan, Vidya; Drögemüller, Cord; Mansour, Tamer A; ... (2020). A Missense Variant in ALDH5A1 Associated with Canine Succinic Semialdehyde Dehydrogenase Deficiency (SSADHD) in the Saluki Dog. Genes, 11(9) MDPI, Molecular Diversity Preservation International 10.3390/genes11091033

Olby, Natasha J; Friedenberg, Steven; Meurs, Kathryn; DeProspero, Dylan; Guevar, Julien; Lau, Jeanie; Yost, Oriana; Guo, Ling T; Shelton, G Diane (2020). A mutation in MTM1 causes X-Linked myotubular myopathy in Boykin spaniels. Neuromuscular disorders, 30(5), pp. 353-359. Elsevier 10.1016/j.nmd.2020.02.021

Becker, Doreen; Minor, Katie M; Letko, Anna; Ekenstedt, Kari J; Jagannathan, Vidhya; Leeb, Tosso; Shelton, G Diane; Mickelson, James R; Drögemüller, Cord (2017). A GJA9 frameshift variant is associated with polyneuropathy in Leonberger dogs. BMC Genomics, 18(1), p. 662. BioMed Central 10.1186/s12864-017-4081-z

Ekenstedt, Kari J; Becker, Doreen; Minor, Katie M; Shelton, G Diane; Patterson, Edward E; Bley, Tim Hendrik; Oevermann, Anna; Bilzer, Thomas; Leeb, Tosso; Drögemüller, Cord; Mickelson, James R (2014). An ARHGEF10 deletion is highly associated with a juvenile-onset inherited polyneuropathy in Leonberger and Saint Bernard dogs. PLoS genetics, 10(10), e1004635. Public Library of Science 10.1371/journal.pgen.1004635

Bruun, Camilla S; Jäderlund, Karin H; Berendt, Mette; Jensen, Kristine B; Spodsberg, Eva H; Gredal, Hanne; Shelton, G Diane; Mickelson, James R; Minor, Katie M; Lohi, Hannes; Bjerkås, Inge; Stigen, Oyvind; Espenes, Arild; Rohdin, Cecilia; Edlund, Rebecca; Ohlsson, Jennie; Cizinauskas, Sigitas; Leifsson, Páll S; Drögemüller, Cord; Moe, Lars; ... (2013). A Gly98Val mutation in the N-Myc downstream regulated gene 1 (NDRG1) in Alaskan Malamutes with polyneuropathy. PLoS ONE, 8(2), e54547. Public Library of Science 10.1371/journal.pone.0054547

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