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.

المصدر: American Journal of Human Genetics, vol. 90, no. 2, pp. 314-320

مصطلحات موضوعية: Adult, Alleles, Cardiomyopathies/enzymology, Cardiomyopathies/genetics, Cataract/enzymology, Cataract/genetics, Child, Codon, Nonsense, Exome, Female, Heterozygote, Humans, Infant, Newborn, Male, Mitochondria/enzymology, Mitochondria/genetics, Mitochondrial ADP, ATP Translocases/genetics, Mitochondrial Proteins/deficiency, Mitochondrial Proteins/genetics, Muscles/metabolism, Phenotype, Phospholipids/metabolism, Phosphotransferases (Alcohol Group Acceptor)/deficiency, Phosphotransferases (Alcohol Group Acceptor)/genetics, Young Adult

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/22284826; info:eu-repo/semantics/altIdentifier/eissn/1537-6605; https://serval.unil.ch/notice/serval:BIB_8EF3EE6678B4Test; urn:issn:0002-9297

الإتاحة: https://doi.org/10.1016/j.ajhg.2011.12.005Test
https://serval.unil.ch/notice/serval:BIB_8EF3EE6678B4Test

المؤلفون: Stenton S. L., Sheremet N. L., Catarino C. B., Andreeva N. A., Assouline Z., Barboni P., Barel O., Berutti R., Bychkov I., Caporali L., Capristo M., Carbonelli M., Cascavilla M. L., Charbel Issa P., Freisinger P., Gerber S., Ghezzi D., Graf E., Heidler J., Hempel M., Heon E., Itkis Y. S., Javasky E., Kaplan J., Kopajtich R., Kornblum C., Kovacs-Nagy R., Krylova T. D., Kunz W. S., La Morgia C., Lamperti C., Ludwig C., Malacarne P. F., Maresca A., Mayr J. A., Meisterknecht J., Nevinitsyna T. A., Palombo F., Pode-Shakked B., Shmelkova M. S., Strom T. M., Tagliavini F., Tzadok M., Van der Ven A. T., Vignal-Clermont C., Wagner M., Zakharova E. Y., Zhorzholadze N. V., Rozet J. -M., Carelli V., Tsygankova P. G., Klopstock T., Wittig I., Prokisch H.

المساهمون: Stenton S.L., Sheremet N.L., Catarino C.B., Andreeva N.A., Assouline Z., Barboni P., Barel O., Berutti R., Bychkov I., Caporali L., Capristo M., Carbonelli M., Cascavilla M.L., Charbel Issa P., Freisinger P., Gerber S., Ghezzi D., Graf E., Heidler J., Hempel M., Heon E., Itkis Y.S., Javasky E., Kaplan J., Kopajtich R., Kornblum C., Kovacs-Nagy R., Krylova T.D., Kunz W.S., La Morgia C., Lamperti C., Ludwig C., Malacarne P.F., Maresca A., Mayr J.A., Meisterknecht J., Nevinitsyna T.A., Palombo F., Pode-Shakked B., Shmelkova M.S., Strom T.M., Tagliavini F., Tzadok M., Van der Ven A.T., Vignal-Clermont C., Wagner M., Zakharova E.Y., Zhorzholadze N.V., Rozet J.-M., Carelli V., Tsygankova P.G., Klopstock T., Wittig I., Prokisch H.

مصطلحات موضوعية: Genetic disease, Genetic, Neuroscience, Adolescent, Adult, Cell Line, Child, Preschool, Electron Transport Complex I, Female, Gene Knockout Technique, Genes, Recessive, HSP40 Heat-Shock Protein, Homozygote, Human, Male, Middle Aged, Optic Atrophy, Hereditary, Leber, Pedigree, Penetrance, Phenotype, Protein Subunit, Reactive Oxygen Specie, Young Adult, Mutation

وصف الملف: ELETTRONICO

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/33465056; info:eu-repo/semantics/altIdentifier/wos/WOS:000663118600006; volume:131; issue:6; firstpage:1; lastpage:13; numberofpages:13; journal:THE JOURNAL OF CLINICAL INVESTIGATION; info:eu-repo/grantAgreement/EC/H2020/01GM1920A; https://hdl.handle.net/11585/864665Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85102720298

الإتاحة: https://doi.org/10.1172/JCI138267Test
https://hdl.handle.net/11585/864665Test

المؤلفون: Yulya S. Itkis, Maja Hempel, Ben Pode-Shakked, Piero Barboni, N.L. Sheremet, Polina G. Tsygankova, Riccardo Berutti, Valerio Carelli, Chiara La Morgia, Daniele Ghezzi, Leonardo Caporali, Jean-Michel Rozet, Natalia A. Andreeva, Amelie T van der Ven, Peter Charbel Issa, Wolfram S. Kunz, Sarah L. Stenton, Claudia B. Catarino, Johannes A. Mayr, Matias Wagner, Maria Lucia Cascavilla, Flavia Palombo, Reka Kovacs-Nagy, Ilka Wittig, Alessandra Maresca, Pedro Felipe Malacarne, Thomas Klopstock, Costanza Lamperti, Sylvie Gerber, Cornelia Kornblum, Holger Prokisch, Nino V. Zhorzholadze, Jana Meisterknecht, Robert Kopajtich, Tatiana A. Nevinitsyna, Ekaterina Zakharova, Michele Carbonelli, Tatiana D. Krylova, Michal Tzadok, Elisabeth Graf, Zahra Assouline, Francesca Tagliavini, Josseline Kaplan, Maria S. Shmelkova, Mariantonietta Capristo, Elise Héon, Ortal Barel, Peter Freisinger, Elisheva Javasky, Igor Bychkov, Christina Ludwig, Tim M. Strom, Catherine Vignal-Clermont, Juliana Heidler

المساهمون: Stenton S.L., Sheremet N.L., Catarino C.B., Andreeva N.A., Assouline Z., Barboni P., Barel O., Berutti R., Bychkov I., Caporali L., Capristo M., Carbonelli M., Cascavilla M.L., Charbel Issa P., Freisinger P., Gerber S., Ghezzi D., Graf E., Heidler J., Hempel M., Heon E., Itkis Y.S., Javasky E., Kaplan J., Kopajtich R., Kornblum C., Kovacs-Nagy R., Krylova T.D., Kunz W.S., La Morgia C., Lamperti C., Ludwig C., Malacarne P.F., Maresca A., Mayr J.A., Meisterknecht J., Nevinitsyna T.A., Palombo F., Pode-Shakked B., Shmelkova M.S., Strom T.M., Tagliavini F., Tzadok M., Van der Ven A.T., Vignal-Clermont C., Wagner M., Zakharova E.Y., Zhorzholadze N.V., Rozet J.-M., Carelli V., Tsygankova P.G., Klopstock T., Wittig I., Prokisch H.

المصدر: The journal of clinical investigation 131(6), e138267 (2021). doi:10.1172/JCI138267
J Clin Invest

مصطلحات موضوعية: Male, 0301 basic medicine, chemistry [Electron Transport Complex I], genetic structures, deficiency [HSP40 Heat-Shock Proteins], Genetic disease, Respiratory chain, Penetrance, metabolism [Optic Atrophy, Hereditary, Leber], Gene Knockout Techniques, metabolism [HSP40 Heat-Shock Proteins], 0302 clinical medicine, Idebenone, metabolism [Reactive Oxygen Species], Protein Subunit, Genetics, Homozygote, Gene Knockout Technique, Leber's hereditary optic neuropathy, General Medicine, Middle Aged, Pedigree, Phenotype, Child, Preschool, 030220 oncology & carcinogenesis, Female, Reactive Oxygen Specie, genetics [HSP40 Heat-Shock Proteins], Genetic diseases, Human, medicine.drug, Adult, congenital, hereditary, and neonatal diseases and abnormalities, Mitochondrial DNA, Adolescent, Mitochondrial disease, Genes, Recessive, Optic Atrophy, Hereditary, Leber, Biology, Cell Line, Young Adult, 03 medical and health sciences, Genetic, medicine, Humans, ddc:610, metabolism [Electron Transport Complex I], Gene, Electron Transport Complex I, Point mutation, nutritional and metabolic diseases, HSP40 Heat-Shock Proteins, medicine.disease, eye diseases, Protein Subunits, 030104 developmental biology, genetics [Optic Atrophy, Hereditary, Leber], Mutation, Commentary, HSP40 Heat-Shock Protein, Reactive Oxygen Species, Neuroscience

وصف الملف: ELETTRONICO

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::24bf545cda9fb173a8ffc9ec90e829e6Test
https://doi.org/10.1172/jci138267Test

المؤلفون: Feichtinger R. G., Olahova M., Kishita Y., Garone C., Kremer L. S., Yagi M., Uchiumi T., Jourdain A. A., Thompson K., D'Souza A. R., Kopajtich R., Alston C. L., Koch J., Sperl W., Mastantuono E., Strom T. M., Wortmann S. B., Meitinger T., Pierre G., Chinnery P. F., Chrzanowska-Lightowlers Z. M., Lightowlers R. N., DiMauro S., Calvo S. E., Mootha V. K., Moggio M., Sciacco M., Comi G. P., Ronchi D., Murayama K., Ohtake A., Rebelo-Guiomar P., Kohda M., Kang D., Mayr J. A., Taylor R. W., Okazaki Y., Minczuk M., Prokisch H.

المساهمون: Garone, Caterina [0000-0003-4928-1037], Chinnery, Patrick [0000-0002-7065-6617], Minczuk, Michal [0000-0001-8242-1420], Apollo - University of Cambridge Repository, Feichtinger R.G., Olahova M., Kishita Y., Garone C., Kremer L.S., Yagi M., Uchiumi T., Jourdain A.A., Thompson K., D'Souza A.R., Kopajtich R., Alston C.L., Koch J., Sperl W., Mastantuono E., Strom T.M., Wortmann S.B., Meitinger T., Pierre G., Chinnery P.F., Chrzanowska-Lightowlers Z.M., Lightowlers R.N., DiMauro S., Calvo S.E., Mootha V.K., Moggio M., Sciacco M., Comi G.P., Ronchi D., Murayama K., Ohtake A., Rebelo-Guiomar P., Kohda M., Kang D., Mayr J.A., Taylor R.W., Okazaki Y., Minczuk M., Prokisch H.

المصدر: American Journal of Human Genetics
American journal of human genetics, vol. 101, no. 4, pp. 525-538

مصطلحات موضوعية: Male, Mitochondrial Diseases, Protein Conformation, Sequence Homology, Severity of Illness Index, Cohort Studies, Mice, Mitochondrial Disease, Age of Onset, Cells, Cultured, Allele, multiple mtDNA deletions, Middle Aged, Pedigree, mitochondria, Child, Preschool, Adult, Aged, Alleles, Amino Acid Sequence, Animals, Cardiomyopathies/complications, Cardiomyopathies/genetics, Cardiomyopathies/pathology, Carrier Proteins/chemistry, Carrier Proteins/genetics, Carrier Proteins/metabolism, DNA, Mitochondrial, Electron Transport/physiology, Embryo, Mammalian/metabolism, Embryo, Mammalian/pathology, Female, Fibroblasts/metabolism, Fibroblasts/pathology, Humans, Infant, Newborn, Mitochondrial Diseases/complications, Mitochondrial Diseases/genetics, Mitochondrial Diseases/pathology, Mitochondrial Proteins/chemistry, Mitochondrial Proteins/genetics, Mitochondrial Proteins/metabolism, Mutation, Oxidative Phosphorylation, Young Adult, MAM33, PEO, lactate, myopathy, oxidative phosphorylation, p32, progressive external ophthalmoplegia, multiple mtDNA deletion, Fibroblast, Cardiomyopathies, Human, Article, Electron Transport, Mitochondrial Proteins, Mitochondrial Protein, Cardiomyopathie, Animal, Fibroblasts, Embryo, Mammalian, Cohort Studie, Carrier Protein, Carrier Proteins

وصف الملف: application/pdf; ELETTRONICO

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::8ac8c0023b11fdbacad4cbc67120937cTest
http://europepmc.org/articles/PMC5630164Test