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1دورية 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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2دورية 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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3دورية 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
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4دورية أكاديمية
المؤلفون: A. M. Lyons, A. Ardissone, A. Reyes, A. J. Robinson, I. Moroni, E. Fernandez Vizarra, M. Zeviani, D. Ghezzi
المساهمون: A.M. Lyon, A. Ardissone, A. Reye, A.J. Robinson, I. Moroni, D. Ghezzi, E. Fernandez Vizarra, M. Zeviani
مصطلحات موضوعية: COX assembly, molecular genetic, neurology, mitochondrial disease, mitochondrial respiratory chaixn, amino acid sequence, cytochrome-C oxidase deficiency, DNA mutational analysi, female, human, leukoencephalopathie, mitochondria, mitochondrial protein, sequence alignment, young adult, mutation, genetic, genetics (clinical), Settore MED/03 - Genetica Medica, Settore BIO/11 - Biologia Molecolare
العلاقة: info:eu-repo/semantics/altIdentifier/pmid/27683825; info:eu-repo/semantics/altIdentifier/wos/WOS:000391457200009; volume:53; issue:12; firstpage:846; lastpage:849; numberofpages:4; journal:JOURNAL OF MEDICAL GENETICS; http://hdl.handle.net/2434/523712Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85028270331
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5دورية أكاديمية
المؤلفون: L. Bee, A. Nasca, A. Zanolini, F. Cendron, P. D'Adamo, R. Costa, C. Lamperti, L. Celotti, M. Zeviani, D. Ghezzi
المساهمون: L. Bee, A. Nasca, A. Zanolini, F. Cendron, P. D'Adamo, R. Costa, C. Lamperti, L. Celotti, D. Ghezzi, M. Zeviani
مصطلحات موضوعية: DNA repair, encephalocardiomyopathy, NHEJ, XRCC4, adult, animal, brain disease, cardiomyopathie, DNA-binding protein, fibroblast, gene expression profiling, genetic association studie, homozygote, human, mice, knockout, mutant protein, codon, nonsense, molecular medicine, Settore MED/03 - Genetica Medica, Settore BIO/11 - Biologia Molecolare
العلاقة: info:eu-repo/semantics/altIdentifier/pmid/25872942; info:eu-repo/semantics/altIdentifier/wos/WOS:000357333300007; volume:7; issue:7; firstpage:918; lastpage:929; numberofpages:12; journal:EMBO MOLECULAR MEDICINE; http://hdl.handle.net/2434/523729Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-84934440068
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6دورية أكاديمية
المؤلفون: A. Reyes, L. Melchionda, A. Nasca, F. Carrara, E. Lamantea, ZANOLINI, ALICE, C. Lamperti, M. Fang, J. Zhang, D. Ronchi, BONATO, SARA, G. Fagiolari, M. Moggio, D. Ghezzi, M. Zeviani
المساهمون: A. Reye, L. Melchionda, A. Nasca, F. Carrara, E. Lamantea, A. Zanolini, C. Lamperti, M. Fang, J. Zhang, D. Ronchi, S. Bonato, G. Fagiolari, M. Moggio, D. Ghezzi, M. Zeviani
مصطلحات موضوعية: adult, amino acid sequence, base sequence, blotting, southern, western, dna replication, dna, mitochondrial, female, high-throughput nucleotide sequencing, human, male, middle aged, mitochondrial encephalomyopathie, molecular sequence data, mutation, ophthalmoplegia, chronic progressive external, pedigree, rna, ribonuclease h, genetic, genetics (clinical), Settore MED/26 - Neurologia
العلاقة: info:eu-repo/semantics/altIdentifier/pmid/26094573; info:eu-repo/semantics/altIdentifier/wos/WOS:000358189500017; volume:97; issue:1; firstpage:186; lastpage:193; numberofpages:8; journal:AMERICAN JOURNAL OF HUMAN GENETICS; http://hdl.handle.net/2434/425916Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-84937516676; http://www.elsevier.com/wps/find/journaldescription.cws_home/713561/description#descriptionTest
الإتاحة: https://doi.org/10.1016/j.ajhg.2015.05.013Test
http://hdl.handle.net/2434/425916Test
http://www.elsevier.com/wps/find/journaldescription.cws_home/713561/description#descriptionTest -
7دورية أكاديمية
المؤلفون: G. Brea Calvo, T. B. Haack, D. Karall, A. Ohtake, F. Invernizzi, R. Carrozzo, L. Kremer, S. Dusi, C. Fauth, S. Scholl BÃ1⁄4rgi, E. Graf, U. Ahting, N. Resta, N. Laforgia, D. Verrigni, Y. Okazaki, M. Kohda, D. Martinelli, P. Freisinger, T. M. Strom, T. Meitinger, C. Lamperti, A. Lacson, P. Navas, J. A. Mayr, E. Bertini, K. Murayama, M. Zeviani, H. Prokisch, D. Ghezzi
المساهمون: G. Brea Calvo, T.B. Haack, D. Karall, A. Ohtake, F. Invernizzi, R. Carrozzo, L. Kremer, S. Dusi, C. Fauth, S. Scholl BÃ1⁄4rgi, E. Graf, U. Ahting, N. Resta, N. Laforgia, D. Verrigni, Y. Okazaki, M. Kohda, D. Martinelli, P. Freisinger, T.M. Strom, T. Meitinger, C. Lamperti, A. Lacson, P. Nava, J.A. Mayr, E. Bertini, K. Murayama, M. Zeviani, H. Prokisch, D. Ghezzi
مصطلحات موضوعية: amino acid sequence, ataxia, base sequence, exome, fatal outcome, female, gene component, human, male, mitochondrial disease, mitochondrial protein, molecular sequence data, muscle weakne, mutation, pedigree, saccharomyces cerevisiae, sequence analysis, DNA, ubiquinone, phenotype, genetic, genetics (clinical), Settore MED/03 - Genetica Medica
العلاقة: info:eu-repo/semantics/altIdentifier/pmid/25658047; info:eu-repo/semantics/altIdentifier/wos/WOS:000349276700013; volume:96; issue:2; firstpage:309; lastpage:317; numberofpages:9; journal:AMERICAN JOURNAL OF HUMAN GENETICS; http://hdl.handle.net/2434/523743Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-84924942443
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8دورية أكاديمية
المؤلفون: A. Ardissone, G. Piscosquito, A. Legati, T. Langella, E. Lamantea, B. Garavaglia, E. Salsano, L. Farina, I. Moroni, D. Pareyson, D. Ghezzi
المساهمون: A. Ardissone, G. Piscosquito, A. Legati, T. Langella, E. Lamantea, B. Garavaglia, E. Salsano, L. Farina, I. Moroni, D. Pareyson, D. Ghezzi
مصطلحات موضوعية: adult, age of onset, apoptosis inducing factor, disease progression, human, male, mitochondrial encephalomyopathie, neurology (clinical), Settore MED/03 - Genetica Medica, Settore MED/26 - Neurologia
العلاقة: info:eu-repo/semantics/altIdentifier/pmid/25934856; info:eu-repo/semantics/altIdentifier/wos/WOS:000355317000021; volume:84; issue:21; firstpage:2193; lastpage:2195; numberofpages:3; journal:NEUROLOGY; http://hdl.handle.net/2434/523752Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-84929880899
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9دورية أكاديمية
المؤلفون: K. Meyer, S. Buettner, M. Zeviani, D. Bano, P. Nicotera, D. Ghezzi
المساهمون: K. Meyer, S. Buettner, D. Ghezzi, M. Zeviani, D. Bano, P. Nicotera
مصطلحات موضوعية: animal, apoptosi, apoptosis inducing factor, human, mice, mitochondria, mitochondrial membrane transport protein, oxidative phosphorylation, immunology, cellular and molecular neuroscience, cell biology, cancer research, Settore MED/03 - Genetica Medica, Settore BIO/11 - Biologia Molecolare
العلاقة: info:eu-repo/semantics/altIdentifier/pmid/26158520; info:eu-repo/semantics/altIdentifier/wos/WOS:000358788800014; volume:6; numberofpages:5; journal:CELL DEATH & DISEASE; http://hdl.handle.net/2434/523735Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-84948457141
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10دورية أكاديمية
المؤلفون: E. Perli, C. Giordano, A. Pisano, A. Montanari, A. F. Campese, A. Reyes, A. Nasca, H. A. Tuppen, M. Orlandi, P. Di Micco, E. Poser, R. W. Taylor, G. Colotti, S. Francisci, V. Morea, L. Frontali, M. Zeviani, G. D'Amati, D. Ghezzi
المساهمون: E. Perli, C. Giordano, A. Pisano, A. Montanari, A.F. Campese, A. Reye, D. Ghezzi, A. Nasca, H.A. Tuppen, M. Orlandi, P. Di Micco, E. Poser, R.W. Taylor, G. Colotti, S. Francisci, V. Morea, L. Frontali, M. Zeviani, G. D'Amati
مصطلحات موضوعية: aminoacyl-tRNA synthetase, mitochondrial disease, mitochondrial tRNA mutation, molecular therapy, amino acyl-tRNA synthetase, cell survival, energy metabolism, human, mitochondria, mutation, peptide, phenotype, protein binding, protein structure, tertiary, protein transport, RNA, transfer, leu, molecular medicine, Settore MED/03 - Genetica Medica, Settore BIO/11 - Biologia Molecolare
العلاقة: info:eu-repo/semantics/altIdentifier/pmid/24413190; info:eu-repo/semantics/altIdentifier/wos/WOS:000331389500003; volume:6; issue:2; firstpage:169; lastpage:182; numberofpages:14; journal:EMBO MOLECULAR MEDICINE; http://hdl.handle.net/2434/523770Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-84893777996