المؤلفون: Acosta, Manuel Jesús, Vazquez Fonseca, Luis, Desbats, Maria Andrea, Cerqua, Cristina, Zordan, Roberta, Trevisson, Eva, Salviati, Leonardo

المساهمون: Telethon Italy, Fondazione CARIPARO, Italian Ministry of Health, University of Padova

المصدر: Biochimica et Biophysica Acta (BBA) - Bioenergetics ; volume 1857, issue 8, page 1079-1085 ; ISSN 0005-2728

الإتاحة: https://doi.org/10.1016/j.bbabio.2016.03.036Test
https://api.elsevier.com/content/article/PII:S0005272816300846?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S0005272816300846?httpAccept=text/plainTest

المؤلفون: Sánchez-Rodríguez, Ricardo, Tezze, Caterina, Agnellini, Andrielly H. R., Angioni, Roberta, Venegas, Francisca C., Cioccarelli, Chiara, Munari, Fabio, Bertoldi, Nicole, Canton, Marcella, Desbats, Maria Andrea, Salviati, Leonardo, Gissi, Rosanna, Castegna, Alessandra, Soriano, Maria Eugenia, Sandri, Marco, Scorrano, Luca, Viola, Antonella, Molon, Barbara

المصدر: Cell Death and Differentiation; March 2023, Vol. 30 Issue: 3 p742-752, 11p

المؤلفون: Desbats, Maria Andrea, Vetro, Annalisa, Limongelli, Ivan, Lunardi, Giada, Casarin, Alberto, Doimo, Mara, Spinazzi, Marco, Angelini, Corrado, Cenacchi, Giovanna, Burlina, Alberto, Rodriguez Hernandez, Maria Angeles, Chiandetti, Lino, Clementi, Maurizio, Trevisson, Eva, Navas, Placido, Zuffardi, Orsetta, Salviati, Leonardo

المصدر: European Journal of Human Genetics ; volume 23, issue 9, page 1254-1258 ; ISSN 1018-4813 1476-5438

مصطلحات موضوعية: Genetics (clinical), Genetics

الإتاحة: https://doi.org/10.1038/ejhg.2014.277Test
http://www.nature.com/articles/ejhg2014277.pdfTest
http://www.nature.com/articles/ejhg2014277Test

المؤلفون: Baschiera, Elisa, Sorrentino, Ugo, Calderan, Cristina, Desbats, Maria Andrea, Salviati, Leonardo

المساهمون: Fondazione Città della Speranza

المصدر: Free Radical Biology and Medicine ; volume 166, page 277-286 ; ISSN 0891-5849

مصطلحات موضوعية: Physiology (medical), Biochemistry

الإتاحة: https://doi.org/10.1016/j.freeradbiomed.2021.02.039Test
https://api.elsevier.com/content/article/PII:S0891584921001374?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S0891584921001374?httpAccept=text/plainTest

المؤلفون: Salviati, Leonardo, Trevisson, Eva, Rodriguez Hernandez, Maria Angeles, Casarin, Alberto, Pertegato, Vanessa, Doimo, Mara, Cassina, Matteo, Agosto, Caterina, Desbats, Maria Andrea, Sartori, Geppo, Sacconi, Sabrina, Memo, Luigi, Zuffardi, Orsetta, Artuch, Rafael, Quinzii, Catarina, DiMauro, Salvatore, Hirano, Michio, Santos-Ocaña, Carlos, Navas, Plácido

مصطلحات موضوعية: New loci

وصف الملف: text/html

العلاقة: http://jmg.bmj.com/cgi/content/short/49/3/187Test; http://dx.doi.org/10.1136/jmedgenet-2011-100394Test

الإتاحة: https://doi.org/10.1136/jmedgenet-2011-100394Test
http://jmg.bmj.com/cgi/content/short/49/3/187Test

المؤلفون: Thomas, María Gabriela, Loschi, Mariela, Desbats, María Andrea, Boccaccio, Graciela Lidia

المساهمون: UBA, Argentina, Consejo Nacional de Investigaciones Científicas y Tecnológicas (CONICET), Agencia Nacional de Promoción Científica y Tecnológica, (ANPCyT), Argentina

المصدر: Cellular Signalling ; volume 23, issue 2, page 324-334 ; ISSN 0898-6568

الإتاحة: https://doi.org/10.1016/j.cellsig.2010.08.011Test
https://api.elsevier.com/content/article/PII:S089865681000238X?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S089865681000238X?httpAccept=text/plainTest

المؤلفون: Mero, Serena, Salviati, Leonardo, Leuzzi, Vincenzo, Rubegni, Anna, Calderan, Cristina, Nardecchia, Francesca, Galatolo, Daniele, Desbats, Maria Andrea, Naef, Valentina, Gemignani, Federica, Novelli, Maria, Tessa, Alessandra, Battini, Roberta, Santorelli, Filippo M., Marchese, Maria

المصدر: Journal of Neurology; Sep2021, Vol. 268 Issue 9, p3381-3389, 9p

مصطلحات موضوعية: ATAXIA, FIBROBLASTS, MULTIENZYME complexes, OXYGEN consumption, CELL metabolism

المؤلفون: Desbats, Maria Andrea, Morbidoni, Valeria, Silic-Benussi, Micol, Doimo, Mara, Ciminale, Vincenzo, Cassina, Matteo, Sacconi, Sabrina, Hirano, Michio, Basso, Giuseppe, Pierrel, Fabien, Navas, Placido, Salviati, Leonardo, Trevisson, Eva

المساهمون: Dpt. of Pediatrics, Università degli Studi di Padova = University of Padua (Unipd), Department of Oncology and Surgical Sciences, Istituto Oncologico Veneto-Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS), CHU Nice, Université Nice Sophia Antipolis (1965 - 2019) (UNS), Department of Pediatrics, Génomique et Évolution des Microorganismes (TIMC-IMAG-GEM), Techniques de l'Ingénierie Médicale et de la Complexité - Informatique, Mathématiques et Applications, Grenoble - UMR 5525 (TIMC-IMAG), Institut polytechnique de Grenoble - Grenoble Institute of Technology (Grenoble INP )-VetAgro Sup - Institut national d'enseignement supérieur et de recherche en alimentation, santé animale, sciences agronomiques et de l'environnement (VAS)-Centre National de la Recherche Scientifique (CNRS)-Université Grenoble Alpes 2016-2019 (UGA 2016-2019 )-Institut polytechnique de Grenoble - Grenoble Institute of Technology (Grenoble INP )-VetAgro Sup - Institut national d'enseignement supérieur et de recherche en alimentation, santé animale, sciences agronomiques et de l'environnement (VAS)-Centre National de la Recherche Scientifique (CNRS)-Université Grenoble Alpes 2016-2019 (UGA 2016-2019 ), Centro Andaluz de Biología del Desarrollo, Universidad Pablo Olavide

المصدر: ISSN: 0964-6906.

مصطلحات موضوعية: [SDV.BBM]Life Sciences [q-bio]/Biochemistry, Molecular Biology

العلاقة: hal-01635280; https://hal.science/hal-01635280Test

الإتاحة: https://doi.org/10.1093/hmg/ddw257Test
https://hal.science/hal-01635280Test

المؤلفون: Vazquez Fonseca, Luis, Doimo, Mara, Calderan, Cristina, Desbats, Maria Andrea, Acosta, Manuel J., Cerqua, Cristina, Cassina, Matteo, Ashraf, Shazia, Hildebrandt, Friedhelm, Sartori, Geppo, Navas, Placido, Trevisson, Eva, Salviati, Leonardo

مصطلحات موضوعية: coenzyme Q deficiency, steroid‐resistant nephrotic syndrome, yeast, COQ8B, mitochondrial nephropathy

وصف الملف: application/pdf

العلاقة: http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5838795/pdfTest/; Human Mutation; Vazquez Fonseca, L., M. Doimo, C. Calderan, M. A. Desbats, M. J. Acosta, C. Cerqua, M. Cassina, et al. 2017. “Mutations in COQ8B (ADCK4) found in patients with steroid‐resistant nephrotic syndrome alter COQ8B function.” Human Mutation 39 (3): 406-414. doi:10.1002/humu.23376. http://dx.doi.org/10.1002/humu.23376Test.; http://nrs.harvard.edu/urn-3:HUL.InstRepos:35981922Test

الإتاحة: https://doi.org/10.1002/humu.23376Test
http://nrs.harvard.edu/urn-3:HUL.InstRepos:35981922Test

المؤلفون: DOIMO, MARA, DESBATS, MARIA ANDREA, CASSINA, MATTEO, TREVISSON, EVA, SALVIATI, LEONARDO, Cerqua C

المساهمون: Doimo, Mara, Desbats, MARIA ANDREA, Cerqua, C, Cassina, Matteo, Trevisson, Eva, Salviati, Leonardo

مصطلحات موضوعية: Coenzyme Q10, Coenzyme Q10 biosynthesi, Coenzyme Q10 deficiency

وصف الملف: ELETTRONICO

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/25126048; volume:5; issue:3-4; firstpage:156; lastpage:162; numberofpages:7; journal:MOLECULAR SYNDROMOLOGY; http://hdl.handle.net/11577/3146960Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-84903986441; https://www.karger.com/Article/FullText/362826Test

الإتاحة: https://doi.org/10.1159/000362826Test
http://hdl.handle.net/11577/3146960Test
https://www.karger.com/Article/FullText/362826Test