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

Yazar: Murgiano, Leonardo, Tammen, Imke, Harlizius, Barbara, Drögemüller, Cord
Baskı/Yayın Bilgisi 2012

Formal commentary

Yazar: Aguirre, Gustavo D., Lohi, Hannes, Kaukonen, Maria, Murgiano, Leonardo
Yayımlandı PLoS Genet (2020)

Candidate Genetic Modifiers for RPGR Retinal Degeneration

Yazar: Appelbaum, Tatyana, Murgiano, Leonardo, Becker, Doreen, Santana, Evelyn, Aguirre, Gustavo D.
Yayımlandı 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

Yazar: Murgiano, Leonardo, Jagannathan, Vidhya, Calderoni, Valerio, Joechler, Monika, Gentile, Arcangelo, Drögemüller, Cord
Baskı/Yayın Bilgisi 2014

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

Yazar: Murgiano, Leonardo, Timperio, Anna Maria, Zolla, Lello, Bongiorni, Silvia, Valentini, Alessio, Pariset, Lorraine
Baskı/Yayın Bilgisi 2009

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

Yazar: Murgiano, Leonardo, Wiedemar, Natalie, Jagannathan, Vidhya, Isling, Louise K, Drögemüller, Cord, Agerholm, Jørgen S
Yayımlandı BMC Vet Res (2015)

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

Yazar: Murgiano, Leonardo, Jagannathan, Vidhya, Piffer, Christian, Diez-Prieto, Inmaculada, Bolcato, Marilena, Gentile, Arcangelo, Drögemüller, Cord
Yayımlandı BMC Vet Res (2016)

Pseudomyotonia in Romagnola cattle caused by novel ATP2A1 mutations

Yazar: Murgiano, Leonardo, Sacchetto, Roberta, Testoni, Stefania, Dorotea, Tiziano, Mascarello, Francesco, Liguori, Rocco, Gentile, Arcangelo, Drögemüller, Cord
Baskı/Yayın Bilgisi 2012

KDM2B‐associated paunch calf syndrome in Marchigiana cattle

Yazar: Murgiano, Leonardo, Militerno, Gianfranco, Sbarra, Fiorella, Drögemüller, Cord, G. P. Jacinto, Joana, Gentile, Arcangelo, Bolcato, Marilena
Yayımlandı 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

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

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

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

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

Yazar: Murgiano, Leonardo, Jagannathan, Vidhya, Benazzi, Cinzia, Bolcato, Marilena, Brunetti, Barbara, Muscatello, Luisa Vera, Dittmer, Keren, Piffer, Christian, Gentile, Arcangelo, Drögemüller, Cord
Baskı/Yayın Bilgisi 2014

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

Yazar: Towers, Rachel E., Murgiano, Leonardo, Millar, David S., Glen, Elise, Topf, Ana, Jagannathan, Vidhya, Drögemüller, Cord, Goodship, Judith A., Clarke, Angus J., Leeb, Tosso
Baskı/Yayın Bilgisi 2013

Hairless Streaks in Cattle Implicate TSR2 in Early Hair Follicle Formation

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

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

Yazar: 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
Yayımlandı PLoS Genet (2016)

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

Yazar: 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
Yayımlandı Sci Rep (2020)

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

Yazar: 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.
Yayımlandı G3 (Bethesda) (2018)

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

Yazar: 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
Yayımlandı G3 (Bethesda) (2016)