A de novo germline mutation in MYH7 causes a progressive dominant myopathy in pigs

Por Murgiano, Leonardo, Tammen, Imke, Harlizius, Barbara, Drögemüller, Cord
Publicado em 2012

Formal commentary

Por Aguirre, Gustavo D., Lohi, Hannes, Kaukonen, Maria, Murgiano, Leonardo
Publicado no PLoS Genet (2020)

Candidate Genetic Modifiers for RPGR Retinal Degeneration

Por Appelbaum, Tatyana, Murgiano, Leonardo, Becker, Doreen, Santana, Evelyn, Aguirre, Gustavo D.
Publicado no Invest Ophthalmol Vis Sci (2020)

Looking the Cow in the Eye: Deletion in the NID1 Gene Is Associated with Recessive Inherited Cataract in Romagnola Cattle

Por Murgiano, Leonardo, Jagannathan, Vidhya, Calderoni, Valerio, Joechler, Monika, Gentile, Arcangelo, Drögemüller, Cord
Publicado em 2014

Comparison of Milk Fat Globule Membrane (MFGM) Proteins of Chianina and Holstein Cattle Breed Milk Samples Through Proteomics Methods

Por Murgiano, Leonardo, Timperio, Anna Maria, Zolla, Lello, Bongiorni, Silvia, Valentini, Alessio, Pariset, Lorraine
Publicado em 2009

Epidermolysa bullosa in Danish Hereford calves is caused by a deletion in LAMC2 gene

Por Murgiano, Leonardo, Wiedemar, Natalie, Jagannathan, Vidhya, Isling, Louise K, Drögemüller, Cord, Agerholm, Jørgen S
Publicado no BMC Vet Res (2015)

A frameshift mutation in MOCOS is associated with familial renal syndrome (xanthinuria) in Tyrolean Grey cattle

Por Murgiano, Leonardo, Jagannathan, Vidhya, Piffer, Christian, Diez-Prieto, Inmaculada, Bolcato, Marilena, Gentile, Arcangelo, Drögemüller, Cord
Publicado no BMC Vet Res (2016)

Pseudomyotonia in Romagnola cattle caused by novel ATP2A1 mutations

Por Murgiano, Leonardo, Sacchetto, Roberta, Testoni, Stefania, Dorotea, Tiziano, Mascarello, Francesco, Liguori, Rocco, Gentile, Arcangelo, Drögemüller, Cord
Publicado em 2012

KDM2B‐associated paunch calf syndrome in Marchigiana cattle

Por Murgiano, Leonardo, Militerno, Gianfranco, Sbarra, Fiorella, Drögemüller, Cord, G. P. Jacinto, Joana, Gentile, Arcangelo, Bolcato, Marilena
Publicado no J Vet Intern Med (2020)

X-Linked Duchenne-Type Muscular Dystrophy in Jack Russell Terrier Associated with a Partial Deletion of the Canine DMD Gene

Por Brunetti, Barbara, Muscatello, Luisa V., Letko, Anna, Papa, Valentina, Cenacchi, Giovanna, Grillini, Marco, Murgiano, Leonardo, Jagannathan, Vidhya, Drögemüller, Cord
Publicado no Genes (Basel) (2020)

Short prolactin isoforms are expressed in photoreceptors of canine retinas undergoing retinal degeneration

Por Sudharsan, Raghavi, Murgiano, Leonardo, Tang, Hsin-Yao, Olsen, Timothy W., Chavali, Venkata R. M., Aguirre, Gustavo D., Beltran, William A.
Publicado no Sci Rep (2021)

Deletion in the EVC2 Gene Causes Chondrodysplastic Dwarfism in Tyrolean Grey Cattle

Por Murgiano, Leonardo, Jagannathan, Vidhya, Benazzi, Cinzia, Bolcato, Marilena, Brunetti, Barbara, Muscatello, Luisa Vera, Dittmer, Keren, Piffer, Christian, Gentile, Arcangelo, Drögemüller, Cord
Publicado em 2014

A Nonsense Mutation in the IKBKG Gene in Mares with Incontinentia Pigmenti

Por Towers, Rachel E., Murgiano, Leonardo, Millar, David S., Glen, Elise, Topf, Ana, Jagannathan, Vidhya, Drögemüller, Cord, Goodship, Judith A., Clarke, Angus J., Leeb, Tosso
Publicado em 2013

Hairless Streaks in Cattle Implicate TSR2 in Early Hair Follicle Formation

Por Murgiano, Leonardo, Shirokova, Vera, Welle, Monika Maria, Jagannathan, Vidhya, Plattet, Philippe, Oevermann, Anna, Pienkowska-Schelling, Aldona, Gallo, Daniele, Gentile, Arcangelo, Mikkola, Marja, Drögemüller, Cord
Publicado no PLoS Genet (2015)

Correction: Hairless Streaks in Cattle Implicate TSR2 in Early Hair Follicle Formation

Por 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
Publicado no PLoS Genet (2016)

CCDC66 frameshift variant associated with a new form of early-onset progressive retinal atrophy in Portuguese Water Dogs

Por Murgiano, Leonardo, Becker, Doreen, Spector, Courtney, Carlin, Kendall, Santana, Evelyn, Niggel, Jessica K., Jagannathan, Vidhya, Leeb, Tosso, Pearce-Kelling, Sue, Aguirre, Gustavo D., Miyadera, Keiko
Publicado no Sci Rep (2020)

Complex Structural PPT1 Variant Associated with Non-syndromic Canine Retinal Degeneration

Por Murgiano, Leonardo, Becker, Doreen, Torjman, Dina, Niggel, Jessica K., Milano, Ausra, Cullen, Cheryl, Feng, Rui, Wang, Fan, Jagannathan, Vidhya, Pearce-Kelling, Sue, Katz, Martin L., Leeb, Tosso, Aguirre, Gustavo D.
Publicado no G3 (Bethesda) (2018)

An Intronic MBTPS2 Variant Results in a Splicing Defect in Horses with Brindle Coat Texture

Por Murgiano, Leonardo, Waluk, Dominik P., Towers, Rachel, Wiedemar, Natalie, Dietrich, Joëlle, Jagannathan, Vidhya, Drögemüller, Michaela, Balmer, Pierre, Druet, Tom, Galichet, Arnaud, Penedo, M. Cecilia, Müller, Eliane J., Roosje, Petra, Welle, Monika M., Leeb, Tosso
Publicado no G3 (Bethesda) (2016)