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

الإتاحة: https://doi.org/10.1093/brain/awab056Test
http://hdl.handle.net/2434/898474Test

المؤلفون: Habibzadeh P., Silawi M., Dastsooz H., Bahramjahan S., Ezzatzadegan Jahromi S., Ostovan V. R., Yavarian M., Mofatteh M., Faghihi M. A.

المساهمون: Habibzadeh P., Silawi M., Dastsooz H., Bahramjahan S., Ezzatzadegan Jahromi S., Ostovan V.R., Yavarian M., Mofatteh M., Faghihi M.A.

مصطلحات موضوعية: Codon, nonsense, Mitochondrial disease, Mitochondrial neurogastrointestinal encephalomyopathy syndrome, TYMP, Abdominal Pain, Adult, Diarrhea, Female, Gastrointestinal Disease, Human, Mitochondrial Encephalomyopathie, Thymidine Phosphorylase

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/32384880; info:eu-repo/semantics/altIdentifier/wos/WOS:000533403100002; volume:20; issue:1; firstpage:142; lastpage:148; numberofpages:7; journal:BMC GASTROENTEROLOGY; http://hdl.handle.net/2318/1800504Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85084720722

الإتاحة: https://doi.org/10.1186/s12876-020-01280-5Test
http://hdl.handle.net/2318/1800504Test

المؤلفون: Beniczky S., Aurlien H., Franceschetti S., Martins da Silva A., Bisulli F., Bentes C., Canafoglia L., Ferri L., Krysl D., Rita Peralta A., Racz A., Cross J. H., Arzimanoglou A.

المساهمون: Beniczky S., Aurlien H., Franceschetti S., Martins da Silva A., Bisulli F., Bentes C., Canafoglia L., Ferri L., Krysl D., Rita Peralta A., Racz A., Cross J.H., Arzimanoglou A.

مصطلحات موضوعية: electroencephalography, epilepsy, epileptiform discharge, intermittent photic stimulation, IRA, SCORE, Adolescent, Adult, Brain, Child, Preschool, Epilepsies, Myoclonic, Absence, Female, Human, Infant, Lafora Disease, Male, Middle Aged, Mitochondrial Encephalomyopathie, Myoclonic Epilepsy, Juvenile, Neurofibromatosis 1, Neuronal Ceroid-Lipofuscinose, Observer Variation, Photic Stimulation, Photosensitivity Disorder, Reproducibility of Result, Rett Syndrome

وصف الملف: ELETTRONICO

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/32949474; info:eu-repo/semantics/altIdentifier/wos/WOS:000570799600001; volume:61; issue:9; firstpage:e124; lastpage:e128; numberofpages:5; journal:EPILEPSIA; https://hdl.handle.net/11585/794504Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85091006429

الإتاحة: https://doi.org/10.1111/epi.16655Test
https://hdl.handle.net/11585/794504Test

المؤلفون: Habibzadeh P., Inaloo S., Silawi M., Dastsooz H., Farazi Fard M. A., Sadeghipour F., Faghihi Z., Rezaeian M., Yavarian M., Bohm J., Faghihi M. A.

المساهمون: Habibzadeh P., Inaloo S., Silawi M., Dastsooz H., Farazi Fard M.A., Sadeghipour F., Faghihi Z., Rezaeian M., Yavarian M., Bohm J., Faghihi M.A.

مصطلحات موضوعية: mitochondrial complex III deficiency, mitochondrial disease, mitochondrial encephalomyopathie, neurodegenerative disease, TTC19

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/31551910; info:eu-repo/semantics/altIdentifier/wos/WOS:000483774400001; volume:10; firstpage:944; lastpage:949; numberofpages:6; journal:FRONTIERS IN NEUROLOGY; http://hdl.handle.net/2318/1800489Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85072820475

الإتاحة: https://doi.org/10.3389/fneur.2019.00944Test
http://hdl.handle.net/2318/1800489Test

المؤلفون: Viscomi C., Zeviani M.

المساهمون: Viscomi, C., Zeviani, M.

مصطلحات موضوعية: Allele, Animal, Biopsy, Cell Nucleu, DNA, Mitochondrial, Gene Deletion, Human, Mice, Mitochondria, Mitochondrial Encephalomyopathie, Mutation, Ophthalmoplegia, Chronic Progressive External, Phenotype, Signal Transduction, Syndrome

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/28324239; info:eu-repo/semantics/altIdentifier/wos/WOS:000405020500012; volume:40; issue:4; firstpage:587; lastpage:599; numberofpages:13; journal:JOURNAL OF INHERITED METABOLIC DISEASE; http://hdl.handle.net/11577/3329964Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85015745369; www.wkap.nl/journalhome.htm/0141-8955

الإتاحة: https://doi.org/10.1007/s10545-017-0027-5Test
http://hdl.handle.net/11577/3329964Test

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

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

الإتاحة: https://doi.org/10.1212/WNL.0000000000001613Test
http://hdl.handle.net/2434/523752Test

المؤلفون: D. Diodato, L. Melchionda, T. B. Haack, C. Dallabona, E. Baruffini, C. Donnini, T. Granata, F. Ragona, P. Balestri, M. Margollicci, E. Lamantea, A. Nasca, C. A. Powell, M. Minczuk, T. M. Strom, T. Meitinger, H. Prokisch, C. Lamperti, M. Zeviani, D. Ghezzi

المساهمون: D. Diodato, L. Melchionda, T.B. Haack, C. Dallabona, E. Baruffini, C. Donnini, T. Granata, F. Ragona, P. Balestri, M. Margollicci, E. Lamantea, A. Nasca, C.A. Powell, M. Minczuk, T.M. Strom, T. Meitinger, H. Prokisch, C. Lamperti, M. Zeviani, D. Ghezzi

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/2434/523772Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-84904406653

الإتاحة: https://doi.org/10.1002/humu.22590Test
http://hdl.handle.net/2434/523772Test

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 Press

مصطلحات 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

المؤلفون: D'Angelo R., Boschetti E., Amore G., Costa R., Pugliese A., Caporali L., Gramegna L. L., Papa V., Vizioli L., Capristo M., Contin M., Mohamed S., Cenacchi G., Lodi R., Morelli M. C., Fasano L., Pisani L., Cescon M., Tonon C., Pinna A. D., Dotti M. T., Sicurelli F., Scarpelli M., Filosto M., Casali C., Pironi L., Carelli V., De Giorgio R., Rinaldi R.

المساهمون: D'Angelo, R., Boschetti, E., Amore, G., Costa, R., Pugliese, A., Caporali, L., Gramegna, L. L., Papa, V., Vizioli, L., Capristo, M., Contin, M., Mohamed, S., Cenacchi, G., Lodi, R., Morelli, M. C., Fasano, L., Pisani, L., Cescon, M., Tonon, C., Pinna, A. D., Dotti, M. T., Sicurelli, F., Scarpelli, M., Filosto, M., Casali, C., Pironi, L., Carelli, V., De Giorgio, R., Rinaldi, R.

مصطلحات موضوعية: Allogenic hematopoietic stem cell transplantation, Liver transplantation, Mitochondrial neurogastrointestinal encephalomyopathy, Thymidine phosphorylase, Adult, Follow-Up Studie, Human, Mitochondrial Encephalomyopathie, Ophthalmoplegia

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/32683607; info:eu-repo/semantics/altIdentifier/wos/WOS:000549793600001; volume:267; issue:12; firstpage:3702; lastpage:3710; numberofpages:9; journal:JOURNAL OF NEUROLOGY; https://hdl.handle.net/11573/1638807Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85088097701

الإتاحة: https://doi.org/10.1007/s00415-020-10051-xTest
https://hdl.handle.net/11573/1638807Test