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

الإتاحة: https://doi.org/10.1002/humu.23398Test
http://hdl.handle.net/2434/552120Test

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

الإتاحة: https://doi.org/10.1016/j.ejmg.2018.03.011Test
http://hdl.handle.net/2434/585776Test

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

الإتاحة: https://doi.org/10.1212/NXG.0000000000000149Test
http://hdl.handle.net/2434/531240Test

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

الإتاحة: https://doi.org/10.1212/NXG.0000000000000162Test
http://hdl.handle.net/2434/531244Test

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

الإتاحة: https://doi.org/10.1186/s13023-017-0641-1Test
http://hdl.handle.net/2434/523688Test

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

الإتاحة: https://doi.org/10.1038/ncomms15824Test
http://hdl.handle.net/2434/523720Test

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

الإتاحة: https://doi.org/10.1093/brain/awv392Test
http://hdl.handle.net/2434/523694Test

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

الإتاحة: https://doi.org/10.1016/j.cmet.2015.12.005Test
http://hdl.handle.net/2434/523741Test

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

الإتاحة: https://doi.org/10.1136/jmedgenet-2016-104194Test
http://hdl.handle.net/2434/523712Test

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

الإتاحة: https://doi.org/10.15252/emmm.201404803Test
http://hdl.handle.net/2434/523729Test