المؤلفون: Berner, Andreas, Das, Rabindra Nath, Bhuma, Naresh, Golebiewska, Justyna, Abrahamsson, Alva, Andréasson, Måns, 1994, Chaudhari, Namrata, Doimo, Mara, Bose, Partha Pratim, Chand, Karam, Strömberg, Roger, Wanrooij, Sjoerd, Chorell, Erik

المصدر: Journal of the American Chemical Society. 146(10):6926-6935

وصف الملف: electronic

URL الوصول: https://urn.kb.se/resolve?urn=urn:nbn:se:umu:diva-222294
https://doi.org/10.1021/jacs.3c14408
https://umu.diva-portal.org/smash/get/diva2:1845788/FULLTEXT01.pdf

المؤلفون: Andréasson, Måns, 1994, Donzel, Maxime, Abrahamsson, Alva, Berner, Andreas, Doimo, Mara, Quiroga, Anna, Eriksson, Anna U., Chao, Yu-Kai, Overman, Jeroen, Pemberton, Nils, Wanrooij, Sjoerd, Chorell, Erik

المصدر: Journal of Medicinal Chemistry. 67(3):2202-2219

وصف الملف: electronic

URL الوصول: https://urn.kb.se/resolve?urn=urn:nbn:se:umu:diva-220319
https://doi.org/10.1021/acs.jmedchem.3c02127
https://umu.diva-portal.org/smash/get/diva2:1837204/FULLTEXT01.pdf

المؤلفون: Doimo, Mara, Chaudhari, Namrata, Abrahamsson, Sanna, L'Hôte, Valentin, Nguyen, Tran V. H., Berner, Andreas, Ndi, Mama, Abrahamsson, Alva, Das, Rabindra Nath, Aasumets, Koit, Goffart, Steffi, Pohjoismäki, Jaakko L. O., López, Marcela Dávila, Chorell, Erik, Wanrooij, Sjoerd

المصدر: Nucleic Acids Research. 51(14):7392-7408

وصف الملف: electronic

URL الوصول: https://urn.kb.se/resolve?urn=urn:nbn:se:umu:diva-214069
https://doi.org/10.1093/nar/gkad535
https://umu.diva-portal.org/smash/get/diva2:1794279/FULLTEXT01.pdf

المؤلفون: Prasad, Bagineni, Doimo, Mara, Andréasson, Måns, L'Hôte, Valentin, Chorell, Erik, Wanrooij, Sjoerd

المصدر: Chemical Science. 13(8):2347-2354

وصف الملف: electronic

URL الوصول: https://urn.kb.se/resolve?urn=urn:nbn:se:umu:diva-193064
https://doi.org/10.1039/d1sc05816a
https://umu.diva-portal.org/smash/get/diva2:1646239/FULLTEXT01.pdf

المؤلفون: Kasho, Kazutoshi, Stojkovic, Gorazd, Velázquez-Ruiz, Cristina, Martínez-Jiménez, Maria Isabel, Doimo, Mara, Laurent, Timothée, Berner, Andreas, Pérez-Rivera, Aldo E., Jenninger, Louise, Blanco, Luis, Wanrooij, Sjoerd

المصدر: Nucleic Acids Research. 49(4):2179-2191

وصف الملف: electronic

URL الوصول: https://urn.kb.se/resolve?urn=urn:nbn:se:umu:diva-181802
https://doi.org/10.1093/nar/gkab049
https://umu.diva-portal.org/smash/get/diva2:1540887/FULLTEXT01.pdf

المؤلفون: Jamroskovic, Jan, Doimo, Mara, Chand, Karam, Obi, Ikenna, Kumar, Rajendra, Brännström, Kristoffer, Hedenström, Mattias, 1976, Das, Rabindra Nath, Akhunzianov, Almaz, Deiana, Marco, Kasho, Kazutoshi, Sulis Sato, Sebastian, Pourbozorgi-Langroudi, Parham, Mason, James E., Medini, Paolo, Öhlund, Daniel, 1979, Wanrooij, Sjoerd, Chorell, Erik, Sabouri, Nasim

المصدر: Journal of the American Chemical Society. 142(6):2876-2888

وصف الملف: electronic

URL الوصول: https://urn.kb.se/resolve?urn=urn:nbn:se:umu:diva-169314
https://doi.org/10.1021/jacs.9b11232
https://umu.diva-portal.org/smash/get/diva2:1420700/FULLTEXT01.pdf

المؤلفون: Al-Behadili, Ali, Uhler, Jay P., Berglund, Anna-Karin, Peter, Bradley, Doimo, Mara, Reyes, Aurelio, Wanrooij, Sjoerd, Zeviani, Massimo, Falkenberg, Maria

المصدر: Nucleic Acids Research. 46(18):9471-9483

وصف الملف: electronic

URL الوصول: https://urn.kb.se/resolve?urn=urn:nbn:se:umu:diva-154079
https://doi.org/10.1093/nar/gky708
https://umu.diva-portal.org/smash/get/diva2:1270199/FULLTEXT01.pdf

المؤلفون: Fonseca, Luis Vazquez, 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

المصدر: Human Mutation. 39(3):406-414

مصطلحات موضوعية: coenzyme Q deficiency, steroid-resistant nephrotic syndrome, yeast, COQ8B, mitochondrial phropathy

وصف الملف: electronic

URL الوصول: https://urn.kb.se/resolve?urn=urn:nbn:se:umu:diva-145360
https://doi.org/10.1002/humu.23376
https://umu.diva-portal.org/smash/get/diva2:1190023/FULLTEXT01.pdf

المؤلفون: SALVIATI, LEONARDO, TREVISSON, EVA, DOIMO, MARA, Navas, P.

المساهمون: Salviati, Leonardo, Trevisson, Eva, Doimo, Mara, Navas, P.

مصطلحات موضوعية: Coenzyme Q10, coenzyme Q10 deficincy, mitochondria

وصف الملف: ELETTRONICO

Relation: info:eu-repo/semantics/altIdentifier/pmid/28125198; ispartofbook:GeneReviews®; serie:GENEREVIEWS; http://hdl.handle.net/11577/3223225; https://www.ncbi.nlm.nih.gov/pubmed/28125198; https://www.ncbi.nlm.nih.gov/books/NBK410087/

الاتاحة: http://hdl.handle.net/11577/3223225
https://www.ncbi.nlm.nih.gov/pubmed/28125198
https://www.ncbi.nlm.nih.gov/books/NBK410087/

المؤلفون: Montioli, Riccardo, Desbats, Maria Andrea, Grottelli, Silvia, Doimo, Mara, Bellezza, Ilaria, Borri Voltattorni, Carla, Salviati, Leonardo, Cellini, Barbara

المساهمون: Telethon Foundation

المصدر: Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease ; volume 1864, issue 11, page 3629-3638 ; ISSN 0925-4439

الاتاحة: http://dx.doi.org/10.1016/j.bbadis.2018.08.032
https://api.elsevier.com/content/article/PII:S0925443918303259?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S0925443918303259?httpAccept=text/plain

المؤلفون: Cerqua, Cristina, Morbidoni, Valeria, Desbats, Maria Andrea, Doimo, Mara, Frasson, Chiara, Sacconi, Sabrina, Baldoin, Maria Cristina, Sartori, Geppo, Basso, Giuseppe, Salviati, Leonardo, Trevisson, Eva

المساهمون: University of Padova, Association Francaise Contre les myopathies, Telethon Italy, Fondazione CARIPARO, Fondazione IRP Città della Speranza

المصدر: Biochimica et Biophysica Acta (BBA) - Bioenergetics ; volume 1859, issue 4, page 244-252 ; ISSN 0005-2728

الاتاحة: http://dx.doi.org/10.1016/j.bbabio.2018.01.004
https://api.elsevier.com/content/article/PII:S0005272818300045?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S0005272818300045?httpAccept=text/plain

المؤلفون: Doimo, Mara, Lopreiato, Raffaele, Basso, Valentina, Bortolotto, Raissa, Tessa, Alessandra, Santorelli, Filippo M, Trevisson, Eva, Salviati, Leonardo

المساهمون: Doimo, Mara, Lopreiato, Raffaele, Basso, Valentina, Bortolotto, Raissa, Tessa, Alessandra, Santorelli, Filippo M, Trevisson, Eva, Salviati, Leonardo

مصطلحات موضوعية: HHH, ORNT1, ORNT2, Ornithine, Urea cycle disorder, Yeast model

Relation: info:eu-repo/semantics/altIdentifier/pmid/26589310; info:eu-repo/semantics/altIdentifier/wos/WOS:000405111900014; journal:JIMD REPORTS; http://hdl.handle.net/11577/3380578; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85060327016

الاتاحة: http://hdl.handle.net/11577/3380578
https://doi.org/10.1007/8904_2015_514

المؤلفون: Nasca, Alessia, Rizza, Teresa, Doimo, Mara, Legati, Andrea, Ciolfi, Andrea, Diodato, Daria, Calderan, Cristina, Carrara, Gianfranco, Lamantea, Eleonora, Aiello, Chiara, Di Nottia, Michela, Niceta, Marcello, Lamperti, Costanza, Ardissone, Anna, Bianchi-Marzoli, Stefania, Iarossi, Giancarlo, Bertini, Enrico, Moroni, Isabella, Tartaglia, Marco, Salviati, Leonardo, Carrozzo, Rosalba, Ghezzi, Daniele

المساهمون: Nasca, A, Rizza, T, Doimo, M, Legati, A, Ciolfi, A, Diodato, D, Calderan, C, Carrara, G, Lamantea, E, Aiello, C, Di Nottia, M, Niceta, M, Lamperti, C, Ardissone, A, Bianchi-Marzoli, S, Iarossi, G, Bertini, E, Moroni, I, Tartaglia, M, Salviati, L, Carrozzo, R, Ghezzi, D

مصطلحات موضوعية: Encephalopathy, Mitochondrial disorder, OPA1, Optic atrophy, Recessive trait, Targeted resequencing, WES, Blotting, Western, Brain Disease, Child, Preschool, Electrophysiology, GTP Phosphohydrolase, Human, Infant, Male, Microscopy, Fluorescence, Mutation, Autosomal Dominant, Tomography, Optical Coherence, Whole Exome Sequencing, Genetics (clinical), Pharmacology (medical)

Relation: info:eu-repo/semantics/altIdentifier/pmid/28494813; info:eu-repo/semantics/altIdentifier/wos/WOS:000401180700002; volume:12; issue:1; firstpage:1; lastpage:10; numberofpages:10; journal:ORPHANET JOURNAL OF RARE DISEASES; http://hdl.handle.net/10281/205499; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85018923242; http://www.ojrd.com/

الاتاحة: http://hdl.handle.net/10281/205499
https://doi.org/10.1186/s13023-017-0641-1
http://www.ojrd.com/

المؤلفون: Doimo, Mara, Pfeiffer, Annika, Wanrooij, Paulina H., 1983, Wanrooij, Sjoerd

المصدر: The human mitochondrial genome. :3-33

مصطلحات موضوعية: Mitochondrial DNA, mtDNA

وصف الملف: print

URL الوصول: https://urn.kb.se/resolve?urn=urn:nbn:se:umu:diva-182657

المؤلفون: DOIMO, MARA, TREVISSON, EVA, SALVIATI, LEONARDO, R. Airik, Bergdoll M, C. Santos Ocaña, F. Hildebrandt, P. Navas, F. Pierrel

المساهمون: Doimo, Mara, Trevisson, Eva, R., Airik, Bergdoll, M, C., Santos Ocaña, F., Hildebrandt, P., Nava, F., Pierrel, Salviati, Leonardo

مصطلحات موضوعية: Coenzyme Q10, Vanillic acid, COQ6, Steroid-resistant nephrotic syndrome

وصف الملف: STAMPA

Relation: info:eu-repo/semantics/altIdentifier/pmid/24140869; info:eu-repo/semantics/altIdentifier/wos/WOS:000332500800001; volume:1842; issue:1; firstpage:1; lastpage:6; numberofpages:6; journal:BIOCHIMICA ET BIOPHYSICA ACTA. MOLECULAR BASIS OF DISEASE; http://hdl.handle.net/11577/2683675; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-84887709796

الاتاحة: http://hdl.handle.net/11577/2683675
https://doi.org/10.1016/j.bbadis.2013.10.007

المؤلفون: Nguyen TP, Santos Ocaña C, Navas P, Clarke CF, CASARIN, ALBERTO, DESBATS, MARIA ANDREA, DOIMO, MARA, TREVISSON, EVA, SALVIATI, LEONARDO

المساهمون: Nguyen, Tp, Casarin, Alberto, Desbats, MARIA ANDREA, Doimo, Mara, Trevisson, Eva, Santos Ocaña, C, Navas, P, Clarke, Cf, Salviati, Leonardo

مصطلحات موضوعية: Coenzyme Q10, Coenzyme Q10 biosynthesi, COQ5

وصف الملف: ELETTRONICO

Relation: info:eu-repo/semantics/altIdentifier/pmid/25152161; info:eu-repo/semantics/altIdentifier/wos/WOS:000343854300007; volume:1841; issue:11; firstpage:1628; lastpage:1638; numberofpages:11; journal:BIOCHIMICA ET BIOPHYSICA ACTA; http://hdl.handle.net/11577/3146959; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-84907766718; http://www.sciencedirect.com/science/article/pii/S1388198114001620

الاتاحة: http://hdl.handle.net/11577/3146959
https://doi.org/10.1016/j.bbalip.2014.08.007
http://www.sciencedirect.com/science/article/pii/S1388198114001620

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

المصدر: Human Molecular Genetics ; volume 25, issue 19, page 4256-4265 ; ISSN 0964-6906 1460-2083

الاتاحة: https://doi.org/10.1093/hmg/ddw257
https://academic.oup.com/hmg/article/2525867/The-COQ2-genotype-predicts-the-severity-of

المؤلفون: CASARIN, ALBERTO, DOIMO, MARA, BASSO, GIUSEPPE, CASSINA, MATTEO, RIZZUTO, ROSARIO, CLEMENTI, MAURIZIO, TREVISSON, EVA, SALVIATI, LEONARDO, Giorgi G, Pertegato V, Siviero R, Cerqua C, Sacconi S, Brosel S, Davidson MM, Dimauro S, Schon EA

المساهمون: Casarin, Alberto, Giorgi, G, Pertegato, V, Siviero, R, Cerqua, C, Doimo, Mara, Basso, Giuseppe, Sacconi, S, Cassina, Matteo, Rizzuto, Rosario, Brosel, S, Davidson, Mm, Dimauro, S, Schon, Ea, Clementi, Maurizio, Trevisson, Eva, Salviati, Leonardo

مصطلحات موضوعية: COX deficiency, bezafibrate, copper, SCO2

وصف الملف: ELETTRONICO

Relation: info:eu-repo/semantics/altIdentifier/pmid/22515166; info:eu-repo/semantics/altIdentifier/wos/WOS:000308918700001; volume:7; firstpage:7; lastpage:21; numberofpages:15; journal:ORPHANET JOURNAL OF RARE DISEASES; http://hdl.handle.net/11577/2495967; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-84859858430; https://ojrd.biomedcentral.com/articles/10.1186/1750-1172-7-21

الاتاحة: http://hdl.handle.net/11577/2495967
https://doi.org/10.1186/1750-1172-7-21
https://ojrd.biomedcentral.com/articles/10.1186/1750-1172-7-21

المؤلفون: SALVIATI, LEONARDO, TREVISSON, EVA, Rodriguez Hernandez MA, CASARIN, ALBERTO, Pertegato V, DOIMO, MARA, CASSINA, MATTEO, Agosto C, Desbats MA, SARTORI, GEPPO, Sacconi S, Memo L, Zuffardi O, Artuch R, Quinzii C, DiMauro S, Hirano M, Santos Ocana C, Navas P.

المساهمون: Salviati, Leonardo, Trevisson, Eva, Rodriguez Hernandez, Ma, Casarin, Alberto, Pertegato, V, Doimo, Mara, Cassina, Matteo, Agosto, C, Desbats, Ma, Sartori, Geppo, Sacconi, S, Memo, L, Zuffardi, O, Artuch, R, Quinzii, C, Dimauro, S, Hirano, M, Santos Ocana, C, Navas, P.

وصف الملف: STAMPA

Relation: info:eu-repo/semantics/altIdentifier/wos/WOS:000300839100007; volume:49; firstpage:187; lastpage:191; numberofpages:5; journal:JOURNAL OF MEDICAL GENETICS; http://hdl.handle.net/11577/2489143; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-84860277256

الاتاحة: http://hdl.handle.net/11577/2489143
https://doi.org/10.1136/jmedgenet-2011-100394

المؤلفون: HEERINGA SF, CHERNIN G, CHAKI M, ZHOU W, SLOAN AJ, JI Z, XIE LX, SALVIATI, LEONARDO, HURD TW, VEGA WARNER V, KILLEN PD, RAPHAEL Y, ASHRAF S, OVUNC B, SCHOEB DS, MCLAUGHLIN HM, AIRIK R, VLANGOS CN, GBADEGESIN R, HINKES B, SAISAWAT P, TREVISSON, EVA, DOIMO, MARA, CASARIN, ALBERTO, PERTEGATO V, GIORGI G, PROKISCH H, RÖTIG A, NÃœRNBERG G, BECKER C, WANG S, OZALTIN F, TOPALOGLU R, BAKKALOGLU A, BAKKALOGLU SA, MÃœLLER D, BEISSERT A, MIR S, BERDELI A, VARPIZEN S, ZENKER M, MATEJAS V, SANTOS OCAÑA C, NAVAS P, KUSAKABE T, KISPERT A, AKMAN S, SOLIMAN NA, KRICK S, MUNDEL P, REISER J, NÃœRNBERG P, CLARKE CF, WIGGINS RC, FAUL C, HILDEBRANDT F.

المساهمون: Heeringa, Sf, Chernin, G, Chaki, M, Zhou, W, Sloan, Aj, Ji, Z, Xie, Lx, Salviati, Leonardo, Hurd, Tw, VEGA WARNER, V, Killen, Pd, Raphael, Y, Ashraf, S, Ovunc, B, Schoeb, D, Mclaughlin, Hm, Airik, R, Vlangos, Cn, Gbadegesin, R, Hinkes, B, Saisawat, P, Trevisson, Eva, Doimo, Mara, Casarin, Alberto, Pertegato, V, Giorgi, G, Prokisch, H, Rã–tig, A, Nãœrnberg, G, Becker, C, Wang, S, Ozaltin, F, Topaloglu, R, Bakkaloglu, A, Bakkaloglu, Sa, Mãœller, D, Beissert, A, Mir, S, Berdeli, A, Varpizen, S, Zenker, M, Matejas, V, SANTOS OCAÑA, C, Navas, P, Kusakabe, T, Kispert, A, Akman, S, Soliman, Na, Krick, S, Mundel, P, Reiser, J, Nãœrnberg, P, Clarke, Cf, Wiggins, Rc, Faul, C, Hildebrandt, F.

مصطلحات موضوعية: COQ6, Coenzyme Q10 deficiency, nephrotic syndrome

وصف الملف: STAMPA

Relation: info:eu-repo/semantics/altIdentifier/pmid/21540551; info:eu-repo/semantics/altIdentifier/wos/WOS:000290246800035; volume:121; issue:5; firstpage:2013; lastpage:2024; numberofpages:12; journal:THE JOURNAL OF CLINICAL INVESTIGATION; http://hdl.handle.net/11577/155488; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-79955520308

الاتاحة: http://hdl.handle.net/11577/155488
https://doi.org/10.1172/JCI45693