المؤلفون: Murgiano, Leonardo, Niggel, Jessica K., Benedicenti, Leontine, Cortellari, Matteo, Bionda, Arianna, Crepaldi, Paola, Liotta, Luigi, Aguirre, Geoffrey K., Beltran, William A., Aguirre, Gustavo D.

المساهمون: L. Murgiano, J.K. Niggel, L. Benedicenti, M. Cortellari, A. Bionda, P. Crepaldi, L. Liotta, G.K. Aguirre, W.A. Beltran, G.D. Aguirre

مصطلحات موضوعية: inherited canine disease, animal model, oculo-neurological syndrome, syndromic retinal condition, Settore VET/08 - Clinica Medica Veterinaria, Settore VET/09 - Clinica Chirurgica Veterinaria, Settore AGR/17 - Zootecnica Generale e Miglioramento Genetico

العلاقة: volume:15; issue:2; firstpage:1; lastpage:17; numberofpages:17; journal:GENES; https://hdl.handle.net/2434/1029402Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85185856345

الإتاحة: https://doi.org/10.3390/genes15020238Test
https://hdl.handle.net/2434/1029402Test

المؤلفون: Murgiano, Leonardo, Banjeree, Esha, O'Connor, Cynthia, Miyadera, Keiko, Werner, Petra, Niggel, Jessica K, Aguirre, Gustavo D, Casal, Margret L

المساهمون: de Koning, D-J, AKC Canine Health Foundation

المصدر: G3: Genes, Genomes, Genetics ; ISSN 2160-1836

الإتاحة: https://doi.org/10.1093/g3journal/jkae067Test

المؤلفون: Akyürek, Eylem Emek, Busato, Francesca, Murgiano, Leonardo, Bianchini, Elisa, Carotti, Marcello, Sandonà, Dorianna, Drögemüller, Cord, Gentile, Arcangelo, Sacchetto, Roberta

المساهمون: Akyürek, Eylem Emek, Busato, Francesca, Murgiano, Leonardo, Bianchini, Elisa, Carotti, Marcello, Sandonà, Dorianna, Drögemüller, Cord, Gentile, Arcangelo, Sacchetto, Roberta

مصطلحات موضوعية: ATP2A1 gene, cattle congenital pseudomyotonia, human Brody disease, sarco(endo)plasmic reticulum Ca2+ ATPase isoform 1 (SERCA1), skeletal muscle diseases

وصف الملف: ELETTRONICO

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/36293223; info:eu-repo/semantics/altIdentifier/wos/WOS:000872988900001; volume:23; issue:20; firstpage:1; lastpage:14; numberofpages:14; journal:INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES; https://hdl.handle.net/11585/918347Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85140988071; https://www.mdpi.com/1422-0067/23/20/12364Test

الإتاحة: https://doi.org/10.3390/ijms232012364Test
https://hdl.handle.net/11585/918347Test
https://www.mdpi.com/1422-0067/23/20/12364Test

المؤلفون: Jenkins, C. A., Aguirre, Gustavo, André, Catherine, Bannasch, Danika, Becker, Doreen, Davis, Brian, Drögemüller, Cord, Ekenstedt, Kari, Faller, Kiterie, Forman, Oliver, Friedenberg, Steven, Furrow, Eva, Giger, Urs, Hitte, Christophe, Hytönen, Marjo, Jagannathan, Vidhya, Leeb, Tosso, Lohi, Hannes, Mellersh, C. S., Mickelson, James R., Murgiano, Leonardo, Oberbauer, Anita, Schmutz, Sheila, Schoenebeck, Jeffrey J., Summers, Kim M., Van Steenbeek, Frank G., Wade, Claire, Schofield, E. C., De Risio, L., Ricketts, S. L.

المصدر: Jenkins , C A , Aguirre , G , André , C , Bannasch , D , Becker , D , Davis , B , Drögemüller , C , Ekenstedt , K , Faller , K , Forman , O , Friedenberg , S , Furrow , E , Giger , U , Hitte , C , Hytönen , M , Jagannathan , V , Leeb , T , Lohi , H , Mellersh , C S , Mickelson , J R , Murgiano , L , Oberbauer , A , Schmutz , S , Schoenebeck , J J ....

الإتاحة: https://doi.org/10.1111/age.13117Test
https://research.manchester.ac.uk/en/publications/be4ed6a4-1b1a-49ad-919b-fe248507fdceTest

المؤلفون: Sudharsan, Raghavi, Murgiano, Leonardo, Tang, Hsin-Yao, Olsen, Timothy W., Chavali, Venkata R. M., Aguirre, Gustavo D., Beltran, William A.

المساهمون: National Eye Institute, BrightFocus Foundation, Research to Prevent Blindness, Foundation Fighting Blindness, Van Sloun Fund for Canine Genetic Research

المصدر: Scientific Reports ; volume 11, issue 1 ; ISSN 2045-2322

مصطلحات موضوعية: Multidisciplinary

الإتاحة: https://doi.org/10.1038/s41598-020-80691-6Test
https://www.nature.com/articles/s41598-020-80691-6.pdfTest
https://www.nature.com/articles/s41598-020-80691-6Test

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

المصدر: 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

مصطلحات موضوعية: 630 Agriculture, 590 Animals (Zoology), 570 Life sciences, biology, 610 Medicine & health

وصف الملف: application/pdf

العلاقة: https://boris.unibe.ch/144564Test/

الإتاحة: https://doi.org/10.1111/jvim.15789Test
https://boris.unibe.ch/144564/1/jvim.15789.pdfTest
https://boris.unibe.ch/144564Test/

المؤلفون: Brunetti, Barbara, Muscatello, Luisa V, Letko, Anna, Papa, Valentina, Cenacchi, Giovanna, Grillini, Marco, Murgiano, Leonardo, Jagannathan, Vidya, Drögemüller, Cord

المصدر: 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, Molecular Diversity Preservation International 10.3390/genes11101175

مصطلحات موضوعية: 570 Life sciences, biology, 590 Animals (Zoology), 610 Medicine & health

وصف الملف: application/pdf

العلاقة: https://boris.unibe.ch/177887Test/

الإتاحة: https://doi.org/10.3390/genes11101175Test
https://boris.unibe.ch/177887/1/genes-11-01175.pdfTest
https://boris.unibe.ch/177887Test/

المؤلفون: 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

المصدر: 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

مصطلحات موضوعية: 570 Life sciences, biology, 590 Animals (Zoology), 610 Medicine & health

وصف الملف: application/pdf

العلاقة: https://boris.unibe.ch/149124Test/

الإتاحة: https://doi.org/10.1038/s41598-020-77980-5Test
https://boris.unibe.ch/149124/1/Murgiano_2020_Sci_Rep_10_21162.pdfTest
https://boris.unibe.ch/149124Test/

المؤلفون: Aguirre, Gustavo D., Lohi, Hannes, Kaukonen, Maria, Murgiano, Leonardo

المساهمون: Barsh, Gregory S.

المصدر: PLOS Genetics ; volume 16, issue 11, page e1009059 ; ISSN 1553-7404

الإتاحة: https://doi.org/10.1371/journal.pgen.1009059Test

المؤلفون: Ripolles-Garcia, Ana, Murgiano, Leonardo, Ziolkowska, Natalia, Marinho, Felipe Pompeo, Roszak, Karolina, Iffrig, Sommer, Aguirre, Gustavo D, Miyadera, Keiko

المساهمون: Margaret Q. Landenberger Research Foundation, National Eye Institute, National Institutes of Health, Van Sloun Foundation for Canine Genetic Research, Sanford and Susan Greenberg End Blindness Outstanding Achievement Prize

المصدر: Human Molecular Genetics ; volume 32, issue 13, page 2139-2151 ; ISSN 0964-6906 1460-2083

الإتاحة: https://doi.org/10.1093/hmg/ddad046Test
https://academic.oup.com/hmg/article-pdf/32/13/2139/50659975/ddad046.pdfTest