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

door Murgiano, Leonardo, Tammen, Imke, Harlizius, Barbara, Drögemüller, Cord
Gepubliceerd in 2012

Formal commentary

door Aguirre, Gustavo D., Lohi, Hannes, Kaukonen, Maria, Murgiano, Leonardo
Gepubliceerd in PLoS Genet (2020)

Candidate Genetic Modifiers for RPGR Retinal Degeneration

door Appelbaum, Tatyana, Murgiano, Leonardo, Becker, Doreen, Santana, Evelyn, Aguirre, Gustavo D.
Gepubliceerd in 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

door Murgiano, Leonardo, Jagannathan, Vidhya, Calderoni, Valerio, Joechler, Monika, Gentile, Arcangelo, Drögemüller, Cord
Gepubliceerd in 2014

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

door Murgiano, Leonardo, Timperio, Anna Maria, Zolla, Lello, Bongiorni, Silvia, Valentini, Alessio, Pariset, Lorraine
Gepubliceerd in 2009

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

door Murgiano, Leonardo, Wiedemar, Natalie, Jagannathan, Vidhya, Isling, Louise K, Drögemüller, Cord, Agerholm, Jørgen S
Gepubliceerd in BMC Vet Res (2015)

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

door Murgiano, Leonardo, Jagannathan, Vidhya, Piffer, Christian, Diez-Prieto, Inmaculada, Bolcato, Marilena, Gentile, Arcangelo, Drögemüller, Cord
Gepubliceerd in BMC Vet Res (2016)

Pseudomyotonia in Romagnola cattle caused by novel ATP2A1 mutations

door Murgiano, Leonardo, Sacchetto, Roberta, Testoni, Stefania, Dorotea, Tiziano, Mascarello, Francesco, Liguori, Rocco, Gentile, Arcangelo, Drögemüller, Cord
Gepubliceerd in 2012

KDM2B‐associated paunch calf syndrome in Marchigiana cattle

door Murgiano, Leonardo, Militerno, Gianfranco, Sbarra, Fiorella, Drögemüller, Cord, G. P. Jacinto, Joana, Gentile, Arcangelo, Bolcato, Marilena
Gepubliceerd in 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

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

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

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

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

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

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

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

Hairless Streaks in Cattle Implicate TSR2 in Early Hair Follicle Formation

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

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

door 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
Gepubliceerd in PLoS Genet (2016)

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

door 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
Gepubliceerd in Sci Rep (2020)

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

door 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.
Gepubliceerd in G3 (Bethesda) (2018)

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

door 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
Gepubliceerd in G3 (Bethesda) (2016)