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1دورية أكاديمية
المؤلفون: Bonora E., Chakrabarty S., Kellaris G., Tsutsumi M., Bianco F., Bergamini C., Ullah F., Isidori F., Liparulo I., Diquigiovanni C., Masin L., Rizzardi N., Cratere M. G., Boschetti E., Papa V., Maresca A., Cenacchi G., Casadio R., Martelli P., Matera I., Ceccherini I., Fato R., Raiola G., Arrigo S., Signa S., Sementa A. R., Severino M., Striano P., Fiorillo C., Goto T., Uchino S., Oyazato Y., Nakamura H., Mishra S. K., Yeh Y. -S., Kato T., Nozu K., Tanboon J., Morioka I., Nishino I., Toda T., Goto Y. -I., Ohtake A., Kosaki K., Yamaguchi Y., Nonaka I., Iijima K., Mimaki M., Kurahashi H., Raams A., Macinnes A., Alders M., Engelen M., Linthorst G., De Koning T., Den Dunnen W., Dijkstra G., Van Spaendonck K., Van Gent D. C., Aronica E. M., Picco P., Carelli V., Seri M., Katsanis N., Duijkers F. A. M., Taniguchi-Ikeda M., De Giorgio R.
المساهمون: E. Bonora, S. Chakrabarty, G. Kellari, M. Tsutsumi, F. Bianco, C. Bergamini, F. Ullah, F. Isidori, I. Liparulo, C. Diquigiovanni, L. Masin, N. Rizzardi, M.G. Cratere, E. Boschetti, V. Papa, A. Maresca, G. Cenacchi, R. Casadio, P. Martelli, I. Matera, I. Ceccherini, R. Fato, G. Raiola, S. Arrigo, S. Signa, A.R. Sementa, M. Severino, P. Striano, C. Fiorillo, T. Goto, S. Uchino, Y. Oyazato, H. Nakamura, S.K. Mishra, Y.-. Yeh, T. Kato, K. Nozu, J. Tanboon, I. Morioka, I. Nishino, T. Toda, Y.-. Goto, A. Ohtake, K. Kosaki, Y. Yamaguchi, I. Nonaka, K. Iijima, M. Mimaki, H. Kurahashi, A. Raam, A. Macinne, M. Alder, M. Engelen, G. Linthorst, T. De Koning, W. Den Dunnen, G. Dijkstra, K. Van Spaendonck, D.C. Van Gent, E.M. Aronica, P. Picco, V. Carelli, M. Seri, N. Katsani, F.A.M. Duijker, M. Taniguchi-Ikeda, R. De Giorgio
مصطلحات موضوعية: CIPO, LIG3, MNGIE, mtDNA repair, mtDNA replication, Animal, DNA Ligase ATP, Female, Gastrointestinal Disease, Gastrointestinal Motility, Human, Male, Mitochondrial Encephalomyopathie, Mutation, Pedigree, Poly-ADP-Ribose Binding Protein, Zebrafish, Settore MED/03 - Genetica Medica
العلاقة: info:eu-repo/semantics/altIdentifier/pmid/33855352; info:eu-repo/semantics/altIdentifier/wos/WOS:000710927500031; volume:144; issue:5; firstpage:1451; lastpage:1466; numberofpages:16; journal:BRAIN; http://hdl.handle.net/2434/898474Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85107848423
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2دورية 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 -
3
المؤلفون: Pierluigi Martelli, Tom J. de Koning, Takema Kato, Irene Liparulo, Mariko Taniguchi-Ikeda, Tatsushi Toda, Hisayoshi Nakamura, Wilfred F. A. den Dunnen, Giovanna Cenacchi, Sanjiban Chakrabarty, Yu Sheng Yeh, Sushil Kumar Mishra, Rita Casadio, Akira Ohtake, Ichizo Nishino, Roberto De Giorgio, Paolo Picco, Pasquale Striano, Chiara Fiorillo, Isabella Ceccherini, Tsuyoshi Goto, Elisa Boschetti, Makiko Tsutsumi, Eleonora Aronica, Georgios Kellaris, Mariel Alders, Gabor E. Linthorst, Jantima Tanboon, Angela Rita Sementa, Floor A. M. Duijkers, Yu Ichi Goto, Hiroki Kurahashi, Masakazu Mimaki, Gerard Dijkstra, Dik C. van Gent, Mariasavina Severino, Yoshinobu Oyazato, Christian Bergamini, Ikuya Nonaka, Yoshiki Yamaguchi, Ivana Matera, Giuseppe Raiola, Karin Van Spaendonck, Nicholas Katsanis, Luca Masin, Shumpei Uchino, Kenjiro Kosaki, Sara Signa, Anja Raams, Federica Isidori, Elena Bonora, Serena Arrigo, Kandai Nozu, Marc Engelen, Farid Ullah, Ichiro Morioka, Chiara Diquigiovanni, Marco Seri, Valerio Carelli, Francesca Bianco, Mariapia Giuditta Cratere, Nicola Rizzardi, Romana Fato, Alessandra Maresca, Alyson W. MacInnes, Valentina Papa, Kazumoto Iijima
المساهمون: Movement Disorder (MD), Molecular Neuroscience and Ageing Research (MOLAR), Groningen Institute for Organ Transplantation (GIOT), Translational Immunology Groningen (TRIGR), Groningen Institute for Gastro Intestinal Genetics and Immunology (3GI), Human Genetics, ACS - Pulmonary hypertension & thrombosis, ARD - Amsterdam Reproduction and Development, Neurology, Paediatric Neurology, ANS - Cellular & Molecular Mechanisms, AGEM - Amsterdam Gastroenterology Endocrinology Metabolism, Endocrinology, Pathology, Bonora, Elena, Chakrabarty, Sanjiban, Kellaris, Georgio, Tsutsumi, Makiko, Bianco, Francesca, Bergamini, Christian, Ullah, Farid, Isidori, Federica, Liparulo, Irene, Diquigiovanni, Chiara, Masin, Luca, Rizzardi, Nicola, Cratere, Mariapia Giuditta, Boschetti, Elisa, Papa, Valentina, Maresca, Alessandra, Cenacchi, Giovanna, Casadio, Rita, Martelli, Pierluigi, Matera, Ivana, Ceccherini, Isabella, Fato, Romana, Raiola, Giuseppe, Arrigo, Serena, Signa, Sara, Sementa, Angela Rita, Severino, Mariasavina, Striano, Pasquale, Fiorillo, Chiara, Goto, Tsuyoshi, Uchino, Shumpei, Oyazato, Yoshinobu, Nakamura, Hisayoshi, Mishra, Sushil K, Yeh, Yu-Sheng, Kato, Takema, Nozu, Kandai, Tanboon, Jantima, Morioka, Ichiro, Nishino, Ichizo, Toda, Tatsushi, Goto, Yu-Ichi, Ohtake, Akira, Kosaki, Kenjiro, Yamaguchi, Yoshiki, Nonaka, Ikuya, Iijima, Kazumoto, Mimaki, Masakazu, Kurahashi, Hiroki, Raams, Anja, MacInnes, Alyson, Alders, Mariel, Engelen, Marc, Linthorst, Gabor, de Koning, Tom, den Dunnen, Wilfred, Dijkstra, Gerard, van Spaendonck, Karin, van Gent, Dik C, Aronica, Eleonora M, Picco, Paolo, Carelli, Valerio, Seri, Marco, Katsanis, Nichola, Duijkers, Floor A M, Taniguchi-Ikeda, Mariko, De Giorgio, Roberto, Molecular Genetics
المصدر: Brain : a Journal of Neurology, 144(5), 1451-1466. Oxford University Press
Brain, 144(5), 1451-1466. Oxford University Pressمصطلحات موضوعية: Male, 0301 basic medicine, Mitochondrial DNA, Gastrointestinal Disease, Mitochondrial disease, LIG3, mtDNA replication, mtDNA repair, MNGIE, CIPO, LIG3, Biology, Mitochondrion, CIPO, MNGIE, mtDNA repair, mtDNA replication, LS3_11, Mitochondrial Encephalomyopathie, NO, DNA Ligase ATP, 03 medical and health sciences, 0302 clinical medicine, SDG 3 - Good Health and Well-being, LS5_1, LS4_1, medicine, LS2_6, Ligase activity, LS5_2, Poly-ADP-Ribose Binding Protein, Zebrafish, Exome sequencing, Mitochondrial Encephalomyopathies, Animal, medicine.disease, Molecular biology, Pedigree, 030104 developmental biology, Mitochondrial DNA repair, 030220 oncology & carcinogenesis, Mutation, Female, Neurology (clinical), Gastrointestinal Motility, Human
وصف الملف: application/pdf; ELETTRONICO
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e470f830e056717e954489f79a11efb4Test
http://hdl.handle.net/11567/1065221Test -
4دورية أكاديمية
المؤلفون: Ghezzi D., Sevrioukova I., Invernizzi F., Lamperti C., Mora M., D'Adamo P., Novara F., Zuffardi O., Uziel G., Zeviani M.
المساهمون: D. Ghezzi, I. Sevrioukova, F. Invernizzi, C. Lamperti, M. Mora, P. D'Adamo, F. Novara, O. Zuffardi, G. Uziel, M. Zeviani
مصطلحات موضوعية: Apoptosis Inducing Factor, Caspase 3, Computer Simulation, DNA Primer, DNA, Mitochondrial, Dietary Supplement, Electron Transport, Female, Fibroblast, Flavin-Adenine Dinucleotide, Human, In Situ Nick-End Labeling, Infant, Newborn, Magnetic Resonance Imaging, Male, Mitochondrial Encephalomyopathie, Muscle, Skeletal, Mutation, Nervous System Disease, Pedigree, Poly (ADP-Ribose) Polymerase-1, Poly(ADP-ribose) Polymerase, Protein Conformation, Riboflavin, Staurosporine, Twins, Monozygotic
العلاقة: info:eu-repo/semantics/altIdentifier/pmid/20362274; info:eu-repo/semantics/altIdentifier/wos/WOS:000276716800016; volume:86; issue:4; firstpage:639; lastpage:649; numberofpages:11; journal:AMERICAN JOURNAL OF HUMAN GENETICS; http://hdl.handle.net/2434/826589Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-77950326171
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المؤلفون: Thompson, Kyle, Mai, Nicole, Oláhová, Monika, Scialó, Filippo, Formosa, Luke E, Stroud, David A, Garrett, Madeleine, Lax, Nichola Z, Robertson, Fiona M, Jou, Cristina, Nascimento, Andres, Ortez, Carlos, Jimenez‐Mallebrera, Cecilia, Hardy, Steven A, He, Langping, Brown, Garry K, Marttinen, Paula, McFarland, Robert, Sanz, Alberto, Battersby, Brendan J, Bonnen, Penelope E, Ryan, Michael T, Chrzanowska‐Lightowlers, Zofia MA, Lightowlers, Robert N, Taylor, Robert W
المساهمون: Institute of Biotechnology, Doctoral Programme in Biomedicine, Doctoral Programme in Integrative Life Science, University Management, Thompson, K., Mai, N., Olahova, M., Scialo, F., Formosa, L. E., Stroud, D. A., Garrett, M., Lax, N. Z., Robertson, F. M., Jou, C., Nascimento, A., Ortez, C., Jimenez-Mallebrera, C., Hardy, S. A., He, L., Brown, G. K., Marttinen, P., Mcfarland, R., Sanz, A., Battersby, B. J., Bonnen, P. E., Ryan, M. T., Chrzanowska-Lightowlers, Z. M. A., Lightowlers, R. N., Taylor, R. W.
المصدر: EMBO Molecular Medicine, Vol 10, Iss 11, Pp n/a-n/a (2018)
EMBO Molecular Medicine
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
instname
r-FSJD: Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
Fundació Sant Joan de Déuمصطلحات موضوعية: Male, Medicine (General), Neuroimaging, QH426-470, DNA, Mitochondrial, Oxidative Phosphorylation, Mitochondrial Encephalomyopathie, Electron Transport Complex IV, Fatal Outcome, R5-920, HEK293 Cell, OXA1L, Genetics, Mitochondrial Protein, encephalopathy, Amino Acid Sequence, Muscle, Skeletal, Research Articles, Nuclear Protein, Electron Transport Chain Complex Protein, Base Sequence, insertase, Animal, mitochondria, Infant, OXPHOS, Pedigree, Child, Preschool, Mutation, Fibroblast, 1182 Biochemistry, cell and molecular biology, Drosophila, Genetics, Gene Therapy & Genetic Disease, Research Article, Neuroscience, Human
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::33ace2b8d93fc82355cffc4d0f974a61Test
http://hdl.handle.net/10138/299102Test -
6دورية أكاديمية
المؤلفون: Thompson K., Mai N., Olahova M., Scialo F., Formosa L. E., Stroud D. A., Garrett M., Lax N. Z., Robertson F. M., Jou C., Nascimento A., Ortez C., Jimenez-Mallebrera C., Hardy S. A., He L., Brown G. K., Marttinen P., McFarland R., Sanz A., Battersby B. J., Bonnen P. E., Ryan M. T., Chrzanowska-Lightowlers Z. M. A., Lightowlers R. N., Taylor R. W.
المساهمون: Thompson, K., Mai, N., Olahova, M., Scialo, F., Formosa, L. E., Stroud, D. A., Garrett, M., Lax, N. Z., Robertson, F. M., Jou, C., Nascimento, A., Ortez, C., Jimenez-Mallebrera, C., Hardy, S. A., He, L., Brown, G. K., Marttinen, P., Mcfarland, R., Sanz, A., Battersby, B. J., Bonnen, P. E., Ryan, M. T., Chrzanowska-Lightowlers, Z. M. A., Lightowlers, R. N., Taylor, R. W.
مصطلحات موضوعية: encephalopathy, insertase, mitochondria, OXA1L, OXPHOS, Amino Acid Sequence, Animal, Base Sequence, Child, Preschool, DNA, Mitochondrial, Drosophila, Electron Transport Chain Complex Protein, Electron Transport Complex IV, Fatal Outcome, Fibroblast, HEK293 Cell, Human, Infant, Male, Mitochondrial Encephalomyopathie, Mitochondrial Protein, Muscle, Skeletal, Mutation, Neuroimaging, Nuclear Protein, Pedigree, Oxidative Phosphorylation
العلاقة: info:eu-repo/semantics/altIdentifier/pmid/30201738; info:eu-repo/semantics/altIdentifier/wos/WOS:000449833900001; volume:10; issue:11; journal:EMBO MOLECULAR MEDICINE; http://hdl.handle.net/11591/429259Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85052959883
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7دورية 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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8دورية أكاديمية
المؤلفون: Gai X., Ghezzi D., Johnson M. A., Biagosch C. A., Shamseldin H. E., Haack T. B., Reyes A., Tsukikawa M., Sheldon C. A., Srinivasan S., Gorza M., Kremer L. S., Wieland T., Strom T. M., Polyak E., Place E., Consugar M., Ostrovsky J., Vidoni S., Robinson A. J., Wong L. -J., Sondheimer N., Salih M. A., Al-Jishi E., Raab C. P., Bean C., Furlan F., Parini R., Lamperti C., Mayr J. A., Konstantopoulou V., Huemer M., Pierce E. A., Meitinger T., Freisinger P., Sperl W., Prokisch H., Alkuraya F. S., Falk M. J., Zeviani M.
المساهمون: Gai, X., Ghezzi, D., Johnson, M. A., Biagosch, C. A., Shamseldin, H. E., Haack, T. B., Reyes, A., Tsukikawa, M., Sheldon, C. A., Srinivasan, S., Gorza, M., Kremer, L. S., Wieland, T., Strom, T. M., Polyak, E., Place, E., Consugar, M., Ostrovsky, J., Vidoni, S., Robinson, A. J., Wong, L. -J., Sondheimer, N., Salih, M. A., Al-Jishi, E., Raab, C. P., Bean, C., Furlan, F., Parini, R., Lamperti, C., Mayr, J. A., Konstantopoulou, V., Huemer, M., Pierce, E. A., Meitinger, T., Freisinger, P., Sperl, W., Prokisch, H., Alkuraya, F. S., Falk, M. J., Zeviani, M.
مصطلحات موضوعية: Age of Onset, Child, Preschool, Chromosome, Human, Pair 6, DNA, Complementary, F-Box Protein, Female, Fibroblast, Gene, Recessive, HEK293 Cell, Infant, Newborn, Male, Mitochondria, Mitochondrial Encephalomyopathie, Mitochondrial Protein, Muscle, Skeletal, Mutant Protein, Mutation, Oxidative Phosphorylation, Pedigree, Protein Transport, Subcellular Fraction, Syndrome, Ubiquitin-Protein Ligase
العلاقة: info:eu-repo/semantics/altIdentifier/wos/WOS:000330268900007; volume:93; issue:3; firstpage:482; lastpage:495; numberofpages:14; journal:AMERICAN JOURNAL OF HUMAN GENETICS; https://hdl.handle.net/11390/1237166Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-84883780647
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9دورية أكاديمية
المؤلفون: Invernizzi F., Tigano M., Dallabona C., Donnini C., Ferrero I., Cremonte M., Ghezzi D., Lamperti C., Zeviani M.
المساهمون: Invernizzi, F., Tigano, M., Dallabona, C., Donnini, C., Ferrero, I., Cremonte, M., Ghezzi, D., Lamperti, C., Zeviani, M.
مصطلحات موضوعية: Complex III deficiency, Encephalopathy, Lactic acidosi, LYRM7, MZM1, Yeast model, Acidosis, Lactic, Amino Acid Sequence, Brain, DNA Mutational Analysi, Electron Transport Complex III, Enzyme Activation, Female, Human, Infant, Magnetic Resonance Imaging, Mitochondrial Encephalomyopathie, Mitochondrial Protein, Molecular Chaperone, Molecular Sequence Data, Pedigree, Saccharomyces cerevisiae, Sequence Alignment, Homozygote, Mutation
العلاقة: info:eu-repo/semantics/altIdentifier/pmid/24014394; info:eu-repo/semantics/altIdentifier/wos/WOS:000326864200006; volume:34; issue:12; firstpage:1619; lastpage:1622; numberofpages:4; journal:HUMAN MUTATION; http://hdl.handle.net/11577/3354221Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-84887613215
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10دورية أكاديمية
المؤلفون: X. Gai, M. A. Johnson, C. A. Biagosch, H. E. Shamseldin, T. B. Haack, A. Reyes, M. Tsukikawa, C. A. Sheldon, S. Srinivasan, M. Gorza, L. S. Kremer, T. Wieland, T. M. Strom, E. Polyak, E. Place, M. Consugar, J. Ostrovsky, S. Vidoni, A. J. Robinson, L. Wong, N. Sondheimer, M. A. Salih, E. Al Jishi, C. P. Raab, C. Bean, F. Furlan, R. Parini, C. Lamperti, J. A. Mayr, V. Konstantopoulou, M. Huemer, E. A. Pierce, T. Meitinger, P. Freisinger, W. Sperl, H. Prokisch, F. S. Alkuraya, M. J. Falk, M. Zeviani, D. Ghezzi
المساهمون: X. Gai, D. Ghezzi, M.A. Johnson, C.A. Biagosch, H.E. Shamseldin, T.B. Haack, A. Reye, M. Tsukikawa, C.A. Sheldon, S. Srinivasan, M. Gorza, L.S. Kremer, T. Wieland, T.M. Strom, E. Polyak, E. Place, M. Consugar, J. Ostrovsky, S. Vidoni, A.J. Robinson, L. Wong, N. Sondheimer, M.A. Salih, E. Al-Jishi, C.P. Raab, C. Bean, F. Furlan, R. Parini, C. Lamperti, J.A. Mayr, V. Konstantopoulou, M. Huemer, E.A. Pierce, T. Meitinger, P. Freisinger, W. Sperl, H. Prokisch, F.S. Alkuraya, M.J. Falk, M. Zeviani
مصطلحات موضوعية: age of onset, child, preschool, chromosomes, human, pair 6, dna, complementary, f-box protein, female, fibroblast, genes, recessive, hek293 cell, infant, newborn, male, mitochondria, mitochondrial encephalomyopathie, mitochondrial protein, muscle, skeletal, mutant protein, mutation, oxidative phosphorylation, pedigree, protein transport, subcellular fraction, syndrome, ubiquitin-protein ligase
العلاقة: info:eu-repo/semantics/altIdentifier/pmid/23993194; info:eu-repo/semantics/altIdentifier/wos/WOS:000330268900007; volume:93; issue:3; firstpage:482; lastpage:495; numberofpages:14; journal:AMERICAN JOURNAL OF HUMAN GENETICS; http://hdl.handle.net/2434/523782Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-84883780647
