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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
Akyürek, Eylem Emek; Busato, Francesca; Murgiano, Leonardo; Bianchini, Elisa; Carotti, Marcello; Sandonà, Dorianna; Drögemüller, Cord; Gentile, Arcangelo; Sacchetto, Roberta (2022). Differential Analysis of Gly211Val and Gly286Val Mutations Affecting Sarco(endo)plasmic Reticulum Ca2+-ATPase (SERCA1) in Congenital Pseudomyotonia Romagnola Cattle. International journal of molecular sciences, 23(20) MDPI 10.3390/ijms232012364
Murgiano, Leonardo; Becker, Doreen; Spector, Courtney; Carlin, Kendall; Santana, Evelyn; Niggel, Jessica K; Jagannathan, Vidya; Leeb, Tosso; Pearce-Kelling, Sue; Aguirre, Gustavo D; Miyadera, Keiko (2020). CCDC66 frameshift variant associated with a new form of early-onset progressive retinal atrophy in Portuguese Water Dogs. Scientific reports, 10(1), p. 21162. Springer Nature 10.1038/s41598-020-77980-5
Brunetti, Barbara; Muscatello, Luisa V; Letko, Anna; Papa, Valentina; Cenacchi, Giovanna; Grillini, Marco; Murgiano, Leonardo; Jagannathan, Vidya; Drögemüller, Cord (2020). X-Linked Duchenne-Type Muscular Dystrophy in Jack Russell Terrier Associated with a Partial Deletion of the Canine DMD Gene. Genes, 11(10) MDPI 10.3390/genes11101175
Murgiano, Leonardo; Militerno, Gianfranco; Sbarra, Fiorella; Drögemüller, Cord; Jacinto, Joana G P; Gentile, Arcangelo; Bolcato, Marilena (2020). KDM2B‐associated paunch calf syndrome in Marchigiana cattle. Journal of veterinary internal medicine, 34(4), pp. 1657-1661. Wiley 10.1111/jvim.15789
Murgiano, Leonardo; Becker, Doreen; Torjman, Dina; Niggel, Jessica K; Milano, Ausra; Cullen, Cheryl; Feng, Rui; Wang, Fan; Jagannathan, Vidya; Pearce-Kelling, Sue; Katz, Martin L; Leeb, Tosso; Aguirre, Gustavo D (2019). Complex Structural Variant Associated with Non-syndromic Canine Retinal Degeneration. G3 Genes Genomes Genetics, 9(2), pp. 425-437. Genetics Society of America 10.1534/g3.118.200859
Murgiano, Leonardo; Jagannathan, Vidhya; Piffer, Christian; Diez-Prieto, Inmaculada; Bolcato, Marilena; Gentile, Arcangelo; Drögemüller, Cord (2016). A frameshift mutation in MOCOS is associated with familial renal syndrome (xanthinuria) in Tyrolean Grey cattle. BMC veterinary research, 12(276), p. 276. BioMed Central 10.1186/s12917-016-0904-4
Murgiano, Leonardo; Waluk, Dominik Pawel; Towers, Rachel; Wiedemar, Natalie; Dietrich, Sara Joëlle; Jagannathan, Vidhya; Drögemüller, Michaela; Balmer, Pierre; Druet, Tom; Galichet, Arnaud; Penedo, M Cecilia; Müller, Eliane Jasmine; Roosje, Petra; Welle, Monika Maria; Leeb, Tosso (2016). An Intronic MBTPS2 Variant Results in a Splicing Defect in Horses with Brindle Coat Texture. G3 Genes Genomes Genetics, 6(9), pp. 2963-2970. Genetics Society of America 10.1534/g3.116.032433
Murgiano, Leonardo; Shirokova, Vera; Welle, Monika Maria; Jagannathan, Vidhya; Plattet, Philippe; Oevermann, Anna; Pienkowska-Schelling, Aldona; Gallo, Daniele; Gentile, Arcangelo; Mikkola, Marja L; Drögemüller, Cord (2016). Correction: Hairless Streaks in Cattle Implicate TSR2 in Early Hair Follicle Formation. PLoS genetics, 12(5), e1005688. Public Library of Science 10.1371/journal.pgen.1005688
Murgiano, Leonardo; Wiedemar, Natalie; Jagannathan, Vidhya; Isling, Louise K; Drögemüller, Cord; Agerholm, Jørgen S (2015). Epidermolysis bullosa in Danish Hereford calves is caused by a deletion in LAMC2 gene. BMC veterinary research, 11(1), p. 334. BioMed Central 10.1186/s12917-015-0334-8
Dorotea, Tiziano; Grünberg, Walter; Murgiano, Leonardo; Plattet, Philippe; Drögemüller, Cord; Mascarello, Francesco; Sacchetto, Roberta (2015). Fast-twitch skeletal muscle fiber adaptation to SERCA1 deficiency in a Dutch Improved Red and White calf pseudomyotonia case. Neuromuscular disorders, 25(11), pp. 888-897. Elsevier 10.1016/j.nmd.2015.08.010
Murgiano, Leonardo; Shirokova, Vera; Welle, Monika Maria; Jagannathan, Vidhya; Plattet, Philippe; Oevermann, Anna; Pienkowska-Schelling, Aldona; Gallo, Daniele; Gentile, Arcangelo; Mikkola, Marja; Drögemüller, Cord (2015). Hairless Streaks in Cattle Implicate TSR2 in Early Hair Follicle Formation. PLoS genetics, 11(7), e1005427. Public Library of Science 10.1371/journal.pgen.1005427
Muscatello, L V; Benazzi, C; Dittmer, K E; Thompson, K G; Murgiano, Leonardo; Drögemüller, Cord; Avallone, G; Gentile, A; Edwards, J F; Piffer, C; Bolcato, M; Brunetti, B (2015). Ellis-van Creveld Syndrome in Grey Alpine Cattle: Morphologic, Immunophenotypic, and Molecular Characterization. Veterinary pathology, 52(5), pp. 957-966. American College of Veterinary Pathologists 10.1177/0300985815588610
Murgiano, Leonardo; Drögemüller, Cord; Sbarra, F; Bolcato, M; Gentile, A (2014). Prevalence of paunch calf syndrome carriers in Italian Romagnola cattle. Veterinary journal, 200(3), pp. 459-461. Elsevier 10.1016/j.tvjl.2014.03.020
Murgiano, Leonardo; Jagannathan, Vidhya; Benazzi, Cinzia; Bolcato, Marilena; Brunetti, Barbara; Muscatello, Luisa Vera; Dittmer, Keren; Piffer, Christian; Gentile, Arcangelo; Drögemüller, Cord (2014). Deletion in the EVC2 gene causes chondrodysplastic dwarfism in Tyrolean Grey cattle. PLoS ONE, 9(4), e94861. Public Library of Science 10.1371/journal.pone.0094861
Murgiano, Leonardo; Jagannathan, Vidhya; Calderoni, Valerio; Joechler, Monika; Gentile, Arcangelo; Drögemüller, Cord (2014). Looking the cow in the eye: deletion in the NID1 gene is associated with recessive inherited cataract in Romagnola cattle. PLoS ONE, 9(10), e110628. Public Library of Science 10.1371/journal.pone.0110628
Murgiano, Leonardo; Testoni, S.; Drögemüller, Cord; Bolcato, M.; Gentile, A. (2013). Frequency of bovine congenital pseudomyotonia carriers in selected Italian Chianina sires. Veterinary journal, 195(2), pp. 238-240. Elsevier 10.1016/j.tvjl.2012.04.021
Towers, Rachel E; Murgiano, Leonardo; Millar, David S; Glen, Elise; Topf, Ana; Jagannathan, Vidhya; Drögemüller, Cord; Goodship, Judith A; Clarke, Angus J; Leeb, Tosso (2013). A Nonsense Mutation in the IKBKG Gene in Mares with Incontinentia Pigmenti. PLoS ONE, 8(12), e81625. Public Library of Science 10.1371/journal.pone.0081625
Murgiano, Leonardo; Tammen, Imke; Harlizius, Barbara; Drögemüller, Cord (2012). A de novo germline mutation in MYH7 causes a progressive dominant myopathy in pigs. BMC genetics, 13, p. 99. BioMed Central 10.1186/1471-2156-13-99
Murgiano, Leonardo; Sacchetto, Roberta; Testoni, Stefania; Dorotea, Tiziano; Mascarello, Francesco; Liguori, Rocco; Gentile, Arcangelo; Drögemüller, Cord (2012). Pseudomyotonia in Romagnola cattle caused by novel ATP2A1 mutations. BMC veterinary research, 8, p. 186. BioMed Central 10.1186/1746-6148-8-186
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. (1 February 2024). RNF170 frameshift deletion in Miniature American Shepherd dogs with neuroaxonal dystrophy provides a naturally occurring model for human RNF170 phenotypic spectrum Research Square 10.21203/rs.3.rs-3914204/v1
