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1دورية أكاديمية
المؤلفون: D. Ghezzi, F. Sauro, A. Columbu, C. Carbone, P.-Y. Hong, F. Vergara, J. De Waele, M. Cappelletti
المصدر: Scientific Reports, Vol 11, Iss 1, Pp 1-18 (2021)
العلاقة: https://doi.org/10.1038/s41598-021-83416-5Test; https://doaj.org/toc/2045-2322Test; https://doaj.org/article/e159647dc53e4fc68603589d26bdcef6Test
الإتاحة: https://doi.org/10.1038/s41598-021-83416-5Test
https://doaj.org/article/e159647dc53e4fc68603589d26bdcef6Test -
2دورية أكاديمية
المؤلفون: F. Bruni, I. Di Meo, E. Bellacchio, B. D. Webb, R. Mcfarland, Z. M. A. Chrzanowska-Lightowlers, L. He, E. Skorupa, I. Moroni, A. Ardissone, A. Walczak, H. Tyynismaa, P. Isohanni, H. Mandel, H. Prokisch, T. Haack, P. E. Bonnen, E. Bertini, E. Pronicka, D. Ghezzi, R. W. Taylor, D. Diodato
المساهمون: F. Bruni, I. Di Meo, E. Bellacchio, B.D. Webb, R. Mcfarland, Z.M.A. Chrzanowska-Lightowler, L. He, E. Skorupa, I. Moroni, A. Ardissone, A. Walczak, H. Tyynismaa, P. Isohanni, H. Mandel, H. Prokisch, T. Haack, P.E. Bonnen, E. Bertini, E. Pronicka, D. Ghezzi, R.W. Taylor, D. Diodato
مصطلحات موضوعية: Cardioencephalomyopathy, Mitochondrial disorder, OXPHOS, VARS2, Genetic, Genetics (clinical), Settore MED/03 - Genetica Medica, Settore MED/26 - Neurologia
العلاقة: info:eu-repo/semantics/altIdentifier/pmid/29314548; info:eu-repo/semantics/altIdentifier/wos/WOS:000426727800009; volume:39; issue:4; firstpage:563; lastpage:578; numberofpages:16; journal:HUMAN MUTATION; http://hdl.handle.net/2434/552120Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85041668846
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3دورية أكاديمية
المؤلفون: F. Invernizzi, G. Zorzi, A. Legati, G. Coppola, P. D'Adamo, N. Nardocci, B. Garavaglia, D. Ghezzi
المساهمون: F. Invernizzi, G. Zorzi, A. Legati, G. Coppola, P. D'Adamo, N. Nardocci, B. Garavaglia, D. Ghezzi
مصطلحات موضوعية: Benign hereditary chorea, Brain-lung-thyroid syndrome, MBIP, NKX2-1, Genetic, Genetics (clinical), Settore MED/03 - Genetica Medica, Settore MED/26 - Neurologia
العلاقة: info:eu-repo/semantics/altIdentifier/pmid/29621620; info:eu-repo/semantics/altIdentifier/wos/WOS:000444004900002; volume:61; issue:10; firstpage:581; lastpage:584; numberofpages:4; journal:EUROPEAN JOURNAL OF MEDICAL GENETICS; http://hdl.handle.net/2434/585776Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85045114001
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4دورية أكاديمية
المؤلفون: Bugiardini, Enrico, Poole, Olivia V, Manole, Andreea, Pittman, Alan M, Horga, Alejandro, Hargreaves, Iain, Woodward, Cathy E, Sweeney, Mary G, Holton, Janice L, Taanman, Jan-willem, Plant, Gordon T, Poulton, Joanna, Zeviani, Massimo, D. Ghezzi, Taylor, John, Smith, Conrad, Fratter, Carl, Kanikannan, Meena A, Paramasivam, Arumugam, Thangaraj, Kumarasamy, Spinazzola, Antonella, Holt, Ian J, Houlden, Henry, Hanna, Michael G, Pitceathly, Robert D. S.
المساهمون: E. Bugiardini, O.V. Poole, A. Manole, A.M. Pittman, A. Horga, I. Hargreave, C.E. Woodward, M.G. Sweeney, J.L. Holton, J. Taanman, G.T. Plant, J. Poulton, M. Zeviani, D. Ghezzi, J. Taylor, C. Smith, C. Fratter, M.A. Kanikannan, A. Paramasivam, K. Thangaraj, A. Spinazzola, I.J. Holt, H. Houlden, M.G. Hanna, R.D.S. Pitceathly
مصطلحات موضوعية: Settore MED/03 - Genetica Medica, Settore MED/26 - Neurologia
العلاقة: info:eu-repo/semantics/altIdentifier/pmid/28508084; info:eu-repo/semantics/altIdentifier/wos/WOS:000425030300003; volume:3; issue:3; firstpage:e149; lastpage:1; numberofpages:7; journal:NEUROLOGY. GENETICS; http://hdl.handle.net/2434/531240Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85048730322
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5دورية أكاديمية
المؤلفون: Mcneill, Nathan, Nasca, Alessia, Reyes, Aurelio, Lemoine, Benjamin, Cantarel, Brandi, Vanderver, Adeline, Schiffmann, Raphael, D. Ghezzi
المساهمون: M. Nathan, N. Alessia, R. Aurelio, L. Benjamin, C. Brandi, V. Adeline, S. Raphael, D. Ghezzi
مصطلحات موضوعية: Settore MED/03 - Genetica Medica, Settore MED/26 - Neurologia, Settore BIO/11 - Biologia Molecolare
العلاقة: info:eu-repo/semantics/altIdentifier/pmid/28748214; info:eu-repo/semantics/altIdentifier/wos/WOS:000425031100002; volume:3; issue:4; firstpage:1; lastpage:7; numberofpages:7; journal:NEUROLOGY. GENETICS; http://hdl.handle.net/2434/531244Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85052668650
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6دورية أكاديمية
المؤلفون: A. Nasca, T. Rizza, M. Doimo, A. Legati, A. Ciolfi, D. Diodato, C. Calderan, G. Carrara, E. Lamantea, C. Aiello, M. Di Nottia, M. Niceta, C. Lamperti, A. Ardissone, S. Bianchi Marzoli, G. Iarossi, E. Bertini, I. Moroni, M. Tartaglia, L. Salviati, R. Carrozzo, D. Ghezzi
المساهمون: A. Nasca, T. Rizza, M. Doimo, A. Legati, A. Ciolfi, D. Diodato, C. Calderan, G. Carrara, E. Lamantea, C. Aiello, M. Di Nottia, M. Niceta, C. Lamperti, A. Ardissone, S. Bianchi Marzoli, G. Iarossi, E. Bertini, I. Moroni, M. Tartaglia, L. Salviati, R. Carrozzo, D. Ghezzi
مصطلحات موضوعية: Encephalopathy, Mitochondrial disorder, OPA1, Optic atrophy, Recessive trait, Targeted resequencing, WES, Medicine (all), Genetics (clinical), Pharmacology (medical), Settore MED/03 - Genetica Medica
العلاقة: 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/2434/523688Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85018923242
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7دورية أكاديمية
المؤلفون: L. S. Kremer, D. M. Bader, C. Mertes, R. Kopajtich, G. Pichler, A. Iuso, T. B. Haack, E. Graf, T. Schwarzmayr, C. Terrile, E. Koňaříková, B. Repp, G. Kastenmüller, J. Adamski, P. Lichtner, C. Leonhardt, B. Funalot, A. Donati, V. Tiranti, A. Lombes, C. Jardel, D. Gläser, R. W. Taylor, J. A. Mayr, A. Rötig, P. Freisinger, F. Distelmaier, T. M. Strom, T. Meitinger, J. Gagneur, H. Prokisch, D. Ghezzi
المساهمون: L.S. Kremer, D.M. Bader, C. Merte, R. Kopajtich, G. Pichler, A. Iuso, T.B. Haack, E. Graf, T. Schwarzmayr, C. Terrile, E. Koňaříková, B. Repp, G. Kastenmüller, J. Adamski, P. Lichtner, C. Leonhardt, B. Funalot, A. Donati, V. Tiranti, A. Lombe, C. Jardel, D. Gläser, R.W. Taylor, D. Ghezzi, J.A. Mayr, A. Rötig, P. Freisinger, F. Distelmaier, T.M. Strom, T. Meitinger, J. Gagneur, H. Prokisch
مصطلحات موضوعية: Chemistry (all), Biochemistry, Genetics and Molecular Biology (all), Physics and Astronomy (all), Settore MED/03 - Genetica Medica, Settore BIO/11 - Biologia Molecolare
العلاقة: info:eu-repo/semantics/altIdentifier/pmid/28604674; info:eu-repo/semantics/altIdentifier/wos/WOS:000403069900001; volume:8; firstpage:1; lastpage:11; numberofpages:11; journal:NATURE COMMUNICATIONS; http://hdl.handle.net/2434/523720Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85020697287
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8دورية أكاديمية
المؤلفون: R. K. J. Olsen, E. KoåˆaåTMãkovã¡, T. A. Giancaspero, S. Mosegaard, V. Boczonadi, L. Matakoviä‡, A. Veauville Merllié, C. Terrile, T. Schwarzmayr, T. B. Haack, M. Auranen, P. Leone, M. Galluccio, A. Imbard, P. Gutierrez Rios, J. Palmfeldt, E. Graf, C. Vianey Saban, M. Oppenheim, M. Schiff, S. Pichard, O. Rigal, A. Pyle, P. F. Chinnery, V. Konstantopoulou, D. Mã¶slinger, R. G. Feichtinger, B. Talim, H. Topaloglu, T. Coskun, S. Gucer, A. Botta, E. Pegoraro, A. Malena, L. Vergani, D. Mazzã, M. Zollino, D. Ghezzi, C. Acquaviva, T. Tyni, A. Boneh, T. Meitinger, T. M. Strom, N. Gregersen, J. A. Mayr, R. Horvath, M. Barile, H. Prokisch
المساهمون: R.K.J. Olsen, E. KoåˆaåTMãkovã¡, T.A. Giancaspero, S. Mosegaard, V. Boczonadi, L. Matakoviä‡, A. Veauville Merllié, C. Terrile, T. Schwarzmayr, T.B. Haack, M. Auranen, P. Leone, M. Galluccio, A. Imbard, P. Gutierrez Rio, J. Palmfeldt, E. Graf, C. Vianey Saban, M. Oppenheim, M. Schiff, S. Pichard, O. Rigal, A. Pyle, P.F. Chinnery, V. Konstantopoulou, D. Mã¶slinger, R.G. Feichtinger, B. Talim, H. Topaloglu, T. Coskun, S. Gucer, A. Botta, E. Pegoraro, A. Malena, L. Vergani, D. Mazzã, M. Zollino, D. Ghezzi, C. Acquaviva, T. Tyni, A. Boneh, T. Meitinger, T.M. Strom, N. Gregersen, J.A. Mayr, R. Horvath, M. Barile, H. Prokisch
مصطلحات موضوعية: adult, blotting, western, case-control studie, cells, cultured, electron transport, female, fibroblast, flavin-adenine dinucleotide, frameshift mutation, gene expression profiling, human, infant, newborn, liver, male, mitochondrial disease, multiple acyl coenzyme a dehydrogenase deficiency, muscle, skeletal, mutagenesis, site-directed, nucleotidyltransferase, protein binding, rna, messenger, real-time polymerase chain reaction, reverse transcriptase polymerase chain reaction, riboflavin
العلاقة: info:eu-repo/semantics/altIdentifier/pmid/27259049; info:eu-repo/semantics/altIdentifier/wos/WOS:000377286000008; volume:98; issue:6; firstpage:1130; lastpage:1145; numberofpages:16; journal:AMERICAN JOURNAL OF HUMAN GENETICS; http://hdl.handle.net/2434/523684Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-84971568098
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9دورية أكاديمية
المؤلفون: C. Dallabona, T. E. . M. Abbink, R. Carrozzo, A. Torraco, A. Legati, C. G. . M. Van Berkel, M. Niceta, T. Langella, D. Verrigni, T. Rizza, D. Diodato, F. Piemonte, E. Lamantea, M. Fang, J. Zhang, D. Martinelli, E. Bevivino, C. Dionisi Vici, A. Vanderver, S. G. Philip, M. A. Kurian, I. C. Verma, S. Bijarnia Mahay, S. Jacinto, F. Furtado, P. Accorsi, A. Ardissone, I. Moroni, I. Ferrero, M. Tartaglia, P. Goffrini, D. Ghezzi, M. S. Van Der Knaap, E. Bertini
المساهمون: C. Dallabona, T.E.M. Abbink, R. Carrozzo, A. Torraco, A. Legati, C.G.M. Van Berkel, M. Niceta, T. Langella, D. Verrigni, T. Rizza, D. Diodato, F. Piemonte, E. Lamantea, M. Fang, J. Zhang, D. Martinelli, E. Bevivino, C. Dionisi Vici, A. Vanderver, S.G. Philip, M.A. Kurian, I.C. Verma, S. Bijarnia Mahay, S. Jacinto, F. Furtado, P. Accorsi, A. Ardissone, I. Moroni, I. Ferrero, M. Tartaglia, P. Goffrini, D. Ghezzi, M.S. Van Der Knaap, E. Bertini
مصطلحات موضوعية: cavitation, complex iii, leukoencephalopathy, lyrm7, mitochondria, adolescent, amino acid sequence, child, preschool, female, human, infant, progressive multifocal, male, mitochondrial protein, molecular chaperone, molecular sequence data, mutation, saccharomyces cerevisiae, magnetic resonance imaging, medicine (all), arts and humanities (miscellaneous), neurology (clinical), Settore MED/03 - Genetica Medica, Settore MED/26 - Neurologia
العلاقة: info:eu-repo/semantics/altIdentifier/pmid/26912632; info:eu-repo/semantics/altIdentifier/wos/WOS:000371694600021; volume:139; issue:3; firstpage:782; lastpage:794; numberofpages:13; journal:BRAIN; http://hdl.handle.net/2434/523694Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-84964649248
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10دورية أكاديمية
المؤلفون: N. Maio, D. Ghezzi, D. Verrigni, T. Rizza, E. Bertini, D. Martinelli, M. Zeviani, A. Singh, R. Carrozzo, T. A. Rouault
المساهمون: N. Maio, D. Ghezzi, D. Verrigni, T. Rizza, E. Bertini, D. Martinelli, M. Zeviani, A. Singh, R. Carrozzo, T.A. Rouault
مصطلحات موضوعية: amino acid motif, amino acid sequence, Electron Transport Complex II, female, HEK293 cell, human, hypoxia-inducible factor 1, alpha subunit, infant, newborn, iron-sulfur protein, leukoencephalopathie, molecular chaperone, molecular sequence data, mutation, protein binding, protein, riboflavin, succinate dehydrogenase, succinate, physiology, molecular biology, cell biology, Settore MED/03 - Genetica Medica, Settore BIO/11 - Biologia Molecolare
العلاقة: info:eu-repo/semantics/altIdentifier/pmid/26749241; info:eu-repo/semantics/altIdentifier/wos/WOS:000373613800008; volume:23; issue:2; firstpage:292; lastpage:302; numberofpages:11; journal:CELL METABOLISM; http://hdl.handle.net/2434/523741Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-84957933845