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1دورية أكاديمية
المؤلفون: Punzi G., Porcelli V., Ruggiu M., Hossain M. F., Menga A., Scarcia P., Castegna A., Gorgoglione R., Pierri C. L., Laera L., Lasorsa F. M., Paradies E., Pisano I., Marobbio C. M. T., Lamantea E., Ghezzi D., Tiranti V., Giannattasio S., Donati M. A., Guerrini R., Palmieri L., Palmieri F., De Grassi A.
المساهمون: Punzi G., Porcelli V., Ruggiu M., Hossain M.F., Menga A., Scarcia P., Castegna A., Gorgoglione R., Pierri C.L., Laera L., Lasorsa F.M., Paradies E., Pisano I., Marobbio C.M.T., Lamantea E., Ghezzi D., Tiranti V., Giannattasio S., Donati M.A., Guerrini R., Palmieri L., Palmieri F., De Grassi A.
مصطلحات موضوعية: Antioxidant, Brain Disease, Child, DNA, Mitochondrial, Dicarboxylic Acid Transporter, Heterozygote, Human, Male, Metabolism, Inborn Error, Mitochondria, Mitochondrial Disease, Mutation, Oxidative Phosphorylation, Oxidative Stre, Pedigree, RNA Splicing
العلاقة: info:eu-repo/semantics/altIdentifier/pmid/29211846; info:eu-repo/semantics/altIdentifier/wos/WOS:000424136000009; volume:27; issue:3; firstpage:499; lastpage:504; numberofpages:6; journal:HUMAN MOLECULAR GENETICS; http://hdl.handle.net/2318/1869079Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85042595293
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2دورية أكاديمية
المؤلفون: Saoura, M, Powell, CA, Kopajtich, R, Alahmad, A, Al-Balool, HH, Albash, B, Alfadhel, M, Alston, CL, Bertini, E, Bonnen, P, Bratkovic, D, Carrozzo, R, Donati, MA, Nottia, MD, Ghezzi, D, Goldstein, A, Haan, E, Horvath, R, Hughes, J, Invernizzi, F, Lamantea, E, Lucas, B, Pinnock, K-G, Pujantell, M, Rahman, S, Rebelo-Guiomar, P, Santra, S, Verrigni, D, McFarland, R, Prokisch, H, Taylor, RW, Levinger, L, Minczuk, M
المصدر: Human Mutation , 40 (10) pp. 1731-1748. (2019)
مصطلحات موضوعية: Mitochondria, RNA, RNase Z, cardiomyopathy, mitochondrial disease
وصف الملف: text
العلاقة: https://discovery.ucl.ac.uk/id/eprint/10074235/1/Rahman%20PDFsam_Rahman%20VOR_Saoura_et_al-2019-Human_Mutation.pdfTest; https://discovery.ucl.ac.uk/id/eprint/10074235Test/
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3دورية أكاديمية
المؤلفون: Marchet, S, Invernizzi, F, Blasevich, F, Bruno, V, Dusi, S, Venco, P, Fiorillo, C, Baranello, G, Pallotti, F, Lamantea, E, Mora, M, Tiranti, V, Lamperti, C
المصدر: Mitochondrion , 47 pp. 24-29. (2019)
مصطلحات موضوعية: CHKB, JC-1, Megaconial CMD, Membrane phospholipids, Mitochondria
وصف الملف: text
العلاقة: https://discovery.ucl.ac.uk/id/eprint/10073868/7/Baranello_Alteration%20of%20mitochondrial%20membrane%20inner%20potential%20in%20three%20Italian%20patients%20with%20megaconial%20congenital%20muscular%20dystrophy_AAM2.pdfTest; https://discovery.ucl.ac.uk/id/eprint/10073868Test/
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4دورية أكاديمية
المؤلفون: Marchet S., Invernizzi F., Blasevich F., Bruno V., Dusi S., Venco P., Fiorillo C., Baranello G., Pallotti F., Lamantea E., Mora M., Tiranti V., Lamperti C.
المساهمون: Marchet, S., Invernizzi, F., Blasevich, F., Bruno, V., Dusi, S., Venco, P., Fiorillo, C., Baranello, G., Pallotti, F., Lamantea, E., Mora, M., Tiranti, V., Lamperti, C.
مصطلحات موضوعية: CHKB, JC-1, Megaconial CMD, Membrane phospholipid, Mitochondria, Child, Preschool, Female, Human, Italy, Membrane Potential, Mitochondrial, Choline Kinase, Muscle, Mitochondrial Membrane, Skeletal, Muscular Dystrophie, Mutation
وصف الملف: STAMPA
العلاقة: info:eu-repo/semantics/altIdentifier/pmid/30986505; info:eu-repo/semantics/altIdentifier/wos/WOS:000475547200004; volume:47; firstpage:24; lastpage:29; numberofpages:6; journal:MITOCHONDRION; http://hdl.handle.net/11383/2097444Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85065039547
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5دورية أكاديمية
المؤلفون: Legati A., Reyes A., Nasca A., Invernizzi F., Lamantea E., Tiranti V., Garavaglia B., Lamperti C., Ardissone A., Moroni I., Robinson A., Ghezzi D., Zeviani M.
المساهمون: Legati, A., Reyes, A., Nasca, A., Invernizzi, F., Lamantea, E., Tiranti, V., Garavaglia, B., Lamperti, C., Ardissone, A., Moroni, I., Robinson, A., Ghezzi, D., Zeviani, M.
مصطلحات موضوعية: E4F1, Mitochondrial disorder, Next Generation Sequencing, Whole Exome sequencing, Adolescent, Amino Acid Sequence, Child, Preschool, Cohort Studie, DNA, Mitochondrial, Electron Transport, Electron Transport Chain Complex Protein, Exome, Female, Gene Expression, Heterozygote, High-Throughput Nucleotide Sequencing, Homozygote, Human, Infant, Male, Mitochondria, Mitochondrial Disease, Molecular Sequence Data, Repressor Protein, Sequence Alignment, Young Adult, Mutation
العلاقة: info:eu-repo/semantics/altIdentifier/pmid/26968897; info:eu-repo/semantics/altIdentifier/wos/WOS:000378179300033; volume:1857; issue:8; firstpage:1326; lastpage:1335; numberofpages:10; journal:BIOCHIMICA ET BIOPHYSICA ACTA-BIOENERGETICS; http://hdl.handle.net/11577/3354191Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-84962199060
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6دورية أكاديمية
المؤلفون: Ardissone A., Lamantea E., Quartararo J., Dallabona C., Carrara F., Moroni I., Donnini C., Garavaglia B., Zeviani M., Uziel G.
المساهمون: Ardissone, A., Lamantea, E., Quartararo, J., Dallabona, C., Carrara, F., Moroni, I., Donnini, C., Garavaglia, B., Zeviani, M., Uziel, G.
مصطلحات موضوعية: Mitochondria, Myopathy, lactic acidosis, and sideroblastic anemia, Tyrosyl-tRNA synthetase, YARS2
العلاقة: info:eu-repo/semantics/altIdentifier/isbn/978-3-662-46699-5; info:eu-repo/semantics/altIdentifier/isbn/978-3-662-46700-8; info:eu-repo/semantics/altIdentifier/pmid/25638461; info:eu-repo/semantics/altIdentifier/wos/WOS:000376984500013; volume:20; firstpage:95; lastpage:101; numberofpages:7; journal:JIMD REPORTS; http://hdl.handle.net/11577/3354205Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-84964474908
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7دورية أكاديمية
المؤلفون: Diodato D., Melchionda L., Haack T. B., Dallabona C., Baruffini E., Donnini C., Granata T., Ragona F., Balestri P., Margollicci M., Lamantea E., Nasca A., Powell C. A., Minczuk M., Strom T. M., Meitinger T., Prokisch H., Lamperti C., Zeviani M., Ghezzi D.
المساهمون: Diodato, D., Melchionda, L., Haack, T. B., Dallabona, C., Baruffini, E., Donnini, C., Granata, T., Ragona, F., Balestri, P., Margollicci, M., Lamantea, E., Nasca, A., Powell, C. A., Minczuk, M., Strom, T. M., Meitinger, T., Prokisch, H., Lamperti, C., Zeviani, M., Ghezzi, D.
مصطلحات موضوعية: Aminoacyl tRNA syntethase, Encephalomyopathy, Mitochondrial disease, OXPHOS defect, TARS2, VARS2, Cell Line, Child, DNA, Mitochondrial, Electron Transport Complex I, Fibroblast, HLA Antigen, Heterozygote, Homozygote, Human, Infant, Isoenzyme, Male, Mitochondria, Mitochondrial Encephalomyopathie, Polymorphism, Genetic, RNA, Messenger, Transfer, Thr, Val, Saccharomyces cerevisiae, Threonine-tRNA Ligase
العلاقة: info:eu-repo/semantics/altIdentifier/pmid/24827421; info:eu-repo/semantics/altIdentifier/wos/WOS:000339431600012; volume:35; issue:8; firstpage:983; lastpage:989; numberofpages:7; journal:HUMAN MUTATION; http://hdl.handle.net/11577/3354213Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-84904406653
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8دورية أكاديمية
المؤلفون: Melchionda L., Haack T. B., Hardy S., Abbink T. E. M., Fernandez-Vizarra E., Lamantea E., Marchet S., Morandi L., Moggio M., Carrozzo R., Torraco A., Diodato D., Strom T. M., Meitinger T., Tekturk P., Yapici Z., Al-Murshedi F., Stevens R., Rodenburg R. J., Lamperti C., Ardissone A., Moroni I., Uziel G., Prokisch H., Taylor R. W., Bertini E., Van Der Knaap M. S., Ghezzi D., Zeviani M.
المساهمون: Melchionda, L., Haack, T. B., Hardy, S., Abbink, T. E. M., Fernandez-Vizarra, E., Lamantea, E., Marchet, S., Morandi, L., Moggio, M., Carrozzo, R., Torraco, A., Diodato, D., Strom, T. M., Meitinger, T., Tekturk, P., Yapici, Z., Al-Murshedi, F., Stevens, R., Rodenburg, R. J., Lamperti, C., Ardissone, A., Moroni, I., Uziel, G., Prokisch, H., Taylor, R. W., Bertini, E., Van Der Knaap, M. S., Ghezzi, D., Zeviani, M.
مصطلحات موضوعية: Adolescent, Adult, Apoptosis Regulatory Protein, Cells, Cultured, Child, Preschool, Cytochrome-c Oxidase Deficiency, Electron Transport Complex IV, Female, Fibroblast, Human, Infant, Leukoencephalopathie, Magnetic Resonance Imaging, Male, Mitochondria, Mitochondrial Protein, Mutation, Myoblasts
العلاقة: info:eu-repo/semantics/altIdentifier/pmid/25175347; info:eu-repo/semantics/altIdentifier/wos/WOS:000341404100008; volume:95; issue:3; firstpage:315; lastpage:325; numberofpages:11; journal:AMERICAN JOURNAL OF HUMAN GENETICS; http://hdl.handle.net/11577/3354211Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-84908254396
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9دورية أكاديمية
المؤلفون: Mayr J. A., Haack T. B., Graf E., Zimmermann F. A., Wieland T., Haberberger B., Superti-Furga A., Kirschner J., Steinmann B., Baumgartner M. R., Moroni I., Lamantea E., Zeviani M., Rodenburg R. J., Smeitink J., Strom T. M., Meitinger T., Sperl W., Prokisch H.
المساهمون: Mayr, J. A., Haack, T. B., Graf, E., Zimmermann, F. A., Wieland, T., Haberberger, B., Superti-Furga, A., Kirschner, J., Steinmann, B., Baumgartner, M. R., Moroni, I., Lamantea, E., Zeviani, M., Rodenburg, R. J., Smeitink, J., Strom, T. M., Meitinger, T., Sperl, W., Prokisch, H.
مصطلحات موضوعية: Adult, Allele, Cardiomyopathie, Cataract, Child, Exome, Female, Heterozygote, Human, Infant, Newborn, Male, Mitochondria, Mitochondrial ADP, ATP Translocase, Mitochondrial Protein, Muscle, Phenotype, Phospholipid, Phosphotransferases (Alcohol Group Acceptor), Young Adult, Codon, Nonsense
العلاقة: info:eu-repo/semantics/altIdentifier/pmid/22284826; info:eu-repo/semantics/altIdentifier/wos/WOS:000300742200013; volume:90; issue:2; firstpage:314; lastpage:320; numberofpages:7; journal:AMERICAN JOURNAL OF HUMAN GENETICS; http://hdl.handle.net/11577/3354256Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-84857043743
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10دورية أكاديميةPredicting the contribution of novel POLG mutations to human disease through analysis in yeast model
المؤلفون: Baruffini E., Horvath R., Dallabona C., Czermin B., Lamantea E., Bindoff L., Invernizzi F., Ferrero I., Zeviani M., Lodi T.
المساهمون: Baruffini, E., Horvath, R., Dallabona, C., Czermin, B., Lamantea, E., Bindoff, L., Invernizzi, F., Ferrero, I., Zeviani, M., Lodi, T.
مصطلحات موضوعية: MIP1, Mitochondrial disease, MtDNA mutability, POLG, ROS scavenger, Yeast model, Amino Acid Sequence, Antioxidant, DNA Polymerase I, DNA Polymerase gamma, DNA-Directed DNA Polymerase, Human, Mitochondria, Molecular Sequence Data, Phenotype, Saccharomyces cerevisiae, Saccharomyces cerevisiae Protein, Sequence Alignment, Point Mutation
العلاقة: info:eu-repo/semantics/altIdentifier/pmid/20883824; info:eu-repo/semantics/altIdentifier/wos/WOS:000286450300025; volume:11; issue:1; firstpage:182; lastpage:190; numberofpages:9; journal:MITOCHONDRION; http://hdl.handle.net/11577/3354272Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-78649984326
