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Cook, Shawna R; Schwarz, Cleo; Guevar, Julien; Assenmacher, Charles-Antoine; Sheehy, Maeve; Fanzone, Nathan; Church, Molly E; Murgiano, Leonardo; Casal, Margret L; Jagannathan, Vidhya; Gutierrez-Quintana, Rodrigo; Lowrie, Mark; Steffen, Frank; Leeb, Tosso; Ekenstedt, Kari J (2024). Canine RNF170 Single Base Deletion in a Naturally Occurring Model for Human Neuroaxonal Dystrophy. (In Press). Movement disorders Wiley 10.1002/mds.29977
Suiter, Emma; Baiker, Kerstin; Kaczmarska, Adriana; Christen, Matthias; Leeb, Tosso; Ororbia, Alejandro; Anselmi, Carlo; Minguez, Juan; Gutierrez-Quintana, Rodrigo (2024). Novel MRI and histopathological findings in a young Bullmastiff cross dog with mitochondrial fission encephalopathy. (In Press). Veterinary radiology & ultrasound Wiley 10.1111/vru.13342
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
Christen, Matthias; Gutierrez-Quintana, Rodrigo; Green, Matthew; Faller, Kiterie M E; Lowrie, Mark; Rusbridge, Clare; Bossens, Kenny; Mellersh, Cathryn; Pettitt, Louise; Heinonen, Tiina; Lohi, Hannes; Jagannathan, Vidhya; Leeb, Tosso (2023). A TNR Frameshift Variant in Weimaraner Dogs with an Exercise-Induced Paroxysmal Movement Disorder. Movement disorders, 38(6), pp. 1094-1099. Wiley 10.1002/mds.29391
Christen, Matthias; Gonzalo-Nadal, Veronica; Kaczmarska, Adriana; Dyrka, Magdalena; Guevar, Julien; Jagannathan, Vidhya; Leeb, Tosso; Gutierrez-Quintana, Rodrigo (2023). A novel missense variant in the L2HGDH gene in a cat with L-2-hydroxyglutaric aciduria and multicystic cerebral lesions. Journal of veterinary internal medicine, 37(2), pp. 676-680. Wiley 10.1111/jvim.16675
Gutierrez-Quintana, Rodrigo; Christen, Matthias; Faller, Kiterie M E; Guevar, Julien; Jagannathan, Vidhya; Leeb, Tosso (2023). SCN9A variant in a family of mixed breed dogs with congenital insensitivity to pain. Journal of veterinary internal medicine, 37(1), pp. 230-235. Wiley 10.1111/jvim.16610
Dutil, Guillaume F; Guevar, Julien; Schweizer, Daniela; Roosje, Petra; Kajin, Filip; Volk, Holger A; Grapes, Nick J; De Decker, Steven; Gutierrez-Quintana, Rodrigo; Abouzeid, Jad; Freeman, Paul; Faller, Kiterie Me; Stein, Veronika M; Maiolini, Arianna (2022). Otitis media and interna with or without polyps in cats: association between meningeal enhancement on postcontrast MRI, cerebrospinal fluid abnormalities, and clinician treatment choice and outcome. Journal of feline medicine and surgery, 24(12), e481-e489. Sage 10.1177/1098612X221125573