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

par Murgiano, Leonardo, Tammen, Imke, Harlizius, Barbara, Drögemüller, Cord
Publié 2012

Formal commentary

par Aguirre, Gustavo D., Lohi, Hannes, Kaukonen, Maria, Murgiano, Leonardo
Publié dans PLoS Genet (2020)

Candidate Genetic Modifiers for RPGR Retinal Degeneration

par Appelbaum, Tatyana, Murgiano, Leonardo, Becker, Doreen, Santana, Evelyn, Aguirre, Gustavo D.
Publié dans 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

par Murgiano, Leonardo, Jagannathan, Vidhya, Calderoni, Valerio, Joechler, Monika, Gentile, Arcangelo, Drögemüller, Cord
Publié 2014

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

par Murgiano, Leonardo, Timperio, Anna Maria, Zolla, Lello, Bongiorni, Silvia, Valentini, Alessio, Pariset, Lorraine
Publié 2009

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

par Murgiano, Leonardo, Wiedemar, Natalie, Jagannathan, Vidhya, Isling, Louise K, Drögemüller, Cord, Agerholm, Jørgen S
Publié dans BMC Vet Res (2015)

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

par Murgiano, Leonardo, Jagannathan, Vidhya, Piffer, Christian, Diez-Prieto, Inmaculada, Bolcato, Marilena, Gentile, Arcangelo, Drögemüller, Cord
Publié dans BMC Vet Res (2016)

Pseudomyotonia in Romagnola cattle caused by novel ATP2A1 mutations

par Murgiano, Leonardo, Sacchetto, Roberta, Testoni, Stefania, Dorotea, Tiziano, Mascarello, Francesco, Liguori, Rocco, Gentile, Arcangelo, Drögemüller, Cord
Publié 2012

KDM2B‐associated paunch calf syndrome in Marchigiana cattle

par Murgiano, Leonardo, Militerno, Gianfranco, Sbarra, Fiorella, Drögemüller, Cord, G. P. Jacinto, Joana, Gentile, Arcangelo, Bolcato, Marilena
Publié dans 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

par Brunetti, Barbara, Muscatello, Luisa V., Letko, Anna, Papa, Valentina, Cenacchi, Giovanna, Grillini, Marco, Murgiano, Leonardo, Jagannathan, Vidhya, Drögemüller, Cord
Publié dans Genes (Basel) (2020)

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

par Sudharsan, Raghavi, Murgiano, Leonardo, Tang, Hsin-Yao, Olsen, Timothy W., Chavali, Venkata R. M., Aguirre, Gustavo D., Beltran, William A.
Publié dans Sci Rep (2021)

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

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

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

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

Hairless Streaks in Cattle Implicate TSR2 in Early Hair Follicle Formation

par Murgiano, Leonardo, Shirokova, Vera, Welle, Monika Maria, Jagannathan, Vidhya, Plattet, Philippe, Oevermann, Anna, Pienkowska-Schelling, Aldona, Gallo, Daniele, Gentile, Arcangelo, Mikkola, Marja, Drögemüller, Cord
Publié dans PLoS Genet (2015)

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

par 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
Publié dans PLoS Genet (2016)

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

par 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
Publié dans Sci Rep (2020)

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

par 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.
Publié dans G3 (Bethesda) (2018)

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

par 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
Publié dans G3 (Bethesda) (2016)