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1دورية أكاديمية
المؤلفون: Dallabona, C, Abbink, TEM, Carrozzo, R, Torraco, A, Legati, A, van Berkel, CGM, Niceta, M, Langella, T, Verrigni, D, Rizza, T, Diodato, D, Piemonte, F, Lamantea, E, Fang, M, Zhang, J, Martinelli, D, Bevivino, E, Dionisi-Vici, C, Vanderver, A, Philip, SG, Kurian, MA, Verma, IC, Bijarnia-Mahay, S, Jacinto, S, Furtado, F, Accorsi, P, Ardissone, A, Moroni, I, Ferrero, I, Tartaglia, M, Goffrini, P, Ghezzi, D, van der Knaap, MS, Bertini, E
مصطلحات موضوعية: Adolescent, Amino Acid Sequence, Child, Humans, Leukoencephalopathy, Progressive Multifocal / diagnosis, Progressive Multifocal / genetics, Mitochondrial Proteins / genetics, Molecular Chaperones / genetics, Molecular Sequence Data, Mutation / genetics, Saccharomyces cerevisiae, HDE NEU PED
العلاقة: Brain . 2016 Mar;139(Pt 3):782-94; http://hdl.handle.net/10400.17/4720Test
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2دورية 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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3دورية أكاديمية
المؤلفون: Reyes A., Melchionda L., Nasca A., Carrara F., Lamantea E., Zanolini A., Lamperti C., Fang M., Zhang J., Ronchi D., Bonato S., Fagiolari G., Moggio M., Ghezzi D., Zeviani M.
المساهمون: Reyes, A., Melchionda, L., Nasca, A., Carrara, F., Lamantea, E., Zanolini, A., Lamperti, C., Fang, M., Zhang, J., Ronchi, D., Bonato, S., Fagiolari, G., Moggio, M., Ghezzi, D., Zeviani, M.
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
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/11577/3354198Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-84937516676
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4دورية أكاديمية
المؤلفون: Kopajtich R., Nicholls T. J., Rorbach J., Metodiev M. D., Freisinger P., Mandel H., Vanlander A., Ghezzi D., Carrozzo R., Taylor R. W., Marquard K., Murayama K., Wieland T., Schwarzmayr T., Mayr J. A., Pearce S. F., Powell C. A., Saada A., Ohtake A., Invernizzi F., Lamantea E., Sommerville E. W., Pyle A., Chinnery P. F., Crushell E., Okazaki Y., Kohda M., Kishita Y., Tokuzawa Y., Assouline Z., Rio M., Feillet F., Mousson De Camaret B., Chretien D., Munnich A., Menten B., Sante T., Smet J., Regal L., Lorber A., Khoury A., Zeviani M., Strom T. M., Meitinger T., Bertini E. S., Van Coster R., Klopstock T., Rotig A., Haack T. B., Minczuk M., Prokisch H.
المساهمون: Kopajtich, R., Nicholls, T. J., Rorbach, J., Metodiev, M. D., Freisinger, P., Mandel, H., Vanlander, A., Ghezzi, D., Carrozzo, R., Taylor, R. W., Marquard, K., Murayama, K., Wieland, T., Schwarzmayr, T., Mayr, J. A., Pearce, S. F., Powell, C. A., Saada, A., Ohtake, A., Invernizzi, F., Lamantea, E., Sommerville, E. W., Pyle, A., Chinnery, P. F., Crushell, E., Okazaki, Y., Kohda, M., Kishita, Y., Tokuzawa, Y., Assouline, Z., Rio, M., Feillet, F., Mousson De Camaret, B., Chretien, D., Munnich, A., Menten, B., Sante, T., Smet, J., Regal, L., Lorber, A., Khoury, A., Zeviani, M., Strom, T. M., Meitinger, T., Bertini, E. S., Van Coster, R., Klopstock, T., Rotig, A., Haack, T. B., Minczuk, M., Prokisch, H.
مصطلحات موضوعية: Acidosis, Lactic, Amino Acid Sequence, Brain, Brain Disease, Cardiomyopathy, Hypertrophic, Cell Line, Child, Preschool, Consanguinity, Female, Fibroblast, GTP-Binding Protein, Human, Infant, Newborn, Male, Molecular Sequence Data, Mutation, Pedigree, Protein Biosynthesi, RNA Interference, RNA, Transfer, Sequence Alignment, Protein Processing, Post-Translational
العلاقة: info:eu-repo/semantics/altIdentifier/pmid/25434004; info:eu-repo/semantics/altIdentifier/wos/WOS:000346623100007; volume:95; issue:6; firstpage:708; lastpage:720; numberofpages:13; journal:AMERICAN JOURNAL OF HUMAN GENETICS; http://hdl.handle.net/11577/3354208Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-84919678076
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5دورية أكاديمية
المؤلفون: Baruffini E., Dallabona C., Invernizzi F., Yarham J. W., Melchionda L., Blakely E. L., Lamantea E., Donnini C., Santra S., Vijayaraghavan S., Roper H. P., Burlina A., Kopajtich R., Walther A., Strom T. M., Haack T. B., Prokisch H., Taylor R. W., Ferrero I., Zeviani M., Ghezzi D.
المساهمون: Baruffini, E., Dallabona, C., Invernizzi, F., Yarham, J. W., Melchionda, L., Blakely, E. L., Lamantea, E., Donnini, C., Santra, S., Vijayaraghavan, S., Roper, H. P., Burlina, A., Kopajtich, R., Walther, A., Strom, T. M., Haack, T. B., Prokisch, H., Taylor, R. W., Ferrero, I., Zeviani, M., Ghezzi, D.
مصطلحات موضوعية: Hypertrophic cardiomyopathy, Lactic acidosi, Mitochondrial disorder, MTO1, Yeast, Acidosis, Lactic, Adolescent, Age of Onset, Amino Acid Sequence, Brain, Cardiomyopathy, Hypertrophic, Carrier Protein, Child, Preschool, DNA Mutational Analysi, Electron Transport Chain Complex Protein, Female, Human, Infant, Newborn, Magnetic Resonance Imaging, Male, Models, Molecular, Molecular Sequence Data, Pedigree, Protein Conformation, Sequence Alignment
العلاقة: info:eu-repo/semantics/altIdentifier/pmid/23929671; info:eu-repo/semantics/altIdentifier/wos/WOS:000325426900009; volume:34; issue:11; firstpage:1501; lastpage:1509; numberofpages:9; journal:HUMAN MUTATION; http://hdl.handle.net/11577/3354223Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-84885434357
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6دورية 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
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7دورية أكاديمية
المؤلفون: Haack T. B., Danhauser K., Haberberger B., Hoser J., Strecker V., Boehm D., Uziel G., Lamantea E., Invernizzi F., Poulton J., Rolinski B., Iuso A., Biskup S., Schmidt T., Mewes H. -W., Wittig I., Meitinger T., Zeviani M., Prokisch H.
المساهمون: Haack, T. B., Danhauser, K., Haberberger, B., Hoser, J., Strecker, V., Boehm, D., Uziel, G., Lamantea, E., Invernizzi, F., Poulton, J., Rolinski, B., Iuso, A., Biskup, S., Schmidt, T., Mewes, H. -W., Wittig, I., Meitinger, T., Zeviani, M., Prokisch, H.
مصطلحات موضوعية: Acyl-CoA Dehydrogenase, Amino Acid Sequence, Cell Line, Child, Preschool, Electron Transport Complex I, Electrophoresis, Gel, Two-Dimensional, Exon, Female, Fibroblast, Genetic Complementation Test, Human, Infant, Male, Molecular Sequence Data, Mutation, Riboflavin, Transduction, Genetic, Sequence Analysis, DNA
العلاقة: info:eu-repo/semantics/altIdentifier/pmid/21057504; info:eu-repo/semantics/altIdentifier/wos/WOS:000284578800018; volume:42; issue:12; firstpage:1131; lastpage:1134; numberofpages:4; journal:NATURE GENETICS; http://hdl.handle.net/11577/3354270Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-78649474742
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8دورية أكاديمية
المؤلفون: Palmieri L., Alberio S., Pisano I., Lodi T., Meznaric-Petrusa M., Zidar J., Santoro A., Scarcia P., Fontanesi F., Lamantea E., Ferrero I., Zeviani M.
المساهمون: Palmieri, L., Alberio, S., Pisano, I., Lodi, T., Meznaric-Petrusa, M., Zidar, J., Santoro, A., Scarcia, P., Fontanesi, F., Lamantea, E., Ferrero, I., Zeviani, M.
مصطلحات موضوعية: Adenine Nucleotide Translocator 1, Adult, Amino Acid Sequence, Animal, Cardiomyopathie, Cell Survival, DNA, Mitochondrial, Electron Transport, Human, Mice, Mitochondrial ADP, ATP Translocase, Mitochondrial Myopathie, Molecular Sequence Data, Muscle, Skeletal, Myocardium, Phenotype, Reactive Oxygen Specie, Saccharomyces cerevisiae, Saccharomyces cerevisiae Protein, Sequence Alignment
العلاقة: info:eu-repo/semantics/altIdentifier/pmid/16155110; info:eu-repo/semantics/altIdentifier/wos/WOS:000232425600013; volume:14; issue:20; firstpage:3079; lastpage:3088; numberofpages:10; journal:HUMAN MOLECULAR GENETICS; http://hdl.handle.net/11577/3354355Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-27544494568
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9دورية أكاديمية
المؤلفون: Tiranti V., D'Adamo P., Briem E., Ferrari G., Mineri R., Lamantea E., Mandel H., Balestri P., Garcia-Silva M. -T., Vollmer B., Rinaldo P., Hahn S. H., Leonard J., Rahman S., Dionisi-Vici C., Garavaglia B., Gasparini P., Zeviani M.
المساهمون: Tiranti, V., D'Adamo, P., Briem, E., Ferrari, G., Mineri, R., Lamantea, E., Mandel, H., Balestri, P., Garcia-Silva, M. -T., Vollmer, B., Rinaldo, P., Hahn, S. H., Leonard, J., Rahman, S., Dionisi-Vici, C., Garavaglia, B., Gasparini, P., Zeviani, M.
مصطلحات موضوعية: Amino Acid Sequence, Blotting, Western, Brain Disease, Cells, Cultured, Chromosome Mapping, Chromosomes, Human, Pair 19, Female, Fluorescent Antibody Technique, Genetic Linkage, Infant, Male, Malonate, Metabolism, Inborn Error, Mitochondrial Protein, Molecular Sequence Data, Nucleocytoplasmic Transport Protein, Pedigree, Sequence Homology, Amino Acid, Mutation
العلاقة: info:eu-repo/semantics/altIdentifier/pmid/14732903; info:eu-repo/semantics/altIdentifier/wos/WOS:000188860000005; volume:74; issue:2; firstpage:239; lastpage:252; numberofpages:14; journal:AMERICAN JOURNAL OF HUMAN GENETICS; http://hdl.handle.net/11577/3354381Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-10744232283
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10دورية أكاديمية
المؤلفون: Crimi M., Galbiati S., Moroni I., Bordoni A., Perini M. P., Lamantea E., Sciacco M., Zeviani M., Biunno I., Moggio M., Scarlato G., Comi G. P.
المساهمون: Crimi, M., Galbiati, S., Moroni, I., Bordoni, A., Perini, M. P., Lamantea, E., Sciacco, M., Zeviani, M., Biunno, I., Moggio, M., Scarlato, G., Comi, G. P.
مصطلحات موضوعية: Adolescent, Amino Acid Sequence, Base Sequence, Brain, Electron Transport Complex I, Genetic Predisposition to Disease, Human, Leigh Disease, MELAS Syndrome, Magnetic Resonance Imaging, Male, Mitochondrial Protein, Molecular Sequence Data, Sequence Alignment, Mutation, Missense
العلاقة: info:eu-repo/semantics/altIdentifier/pmid/12796552; info:eu-repo/semantics/altIdentifier/wos/WOS:000183418400033; volume:60; issue:11; firstpage:1857; lastpage:1861; numberofpages:5; journal:NEUROLOGY; http://hdl.handle.net/11577/3354384Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-10744223599
الإتاحة: https://doi.org/10.1212/01.WNL.0000066048.72780.69Test
http://hdl.handle.net/11577/3354384Test
