-
1
المؤلفون: Feichtinger, R.G., Preisel, M., Brugger, K., Wortmann, S.B., Mayr, J.A.
المصدر: Genes, 14, 6
مصطلحات موضوعية: All institutes and research themes of the Radboud University Medical Center, Metabolic Disorders Radboud Institute for Molecular Life Sciences [Radboudumc 6]
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=od______1236::4d13ca97071ba0c8cd29af5ae5ada349Test
-
2
المؤلفون: Feichtinger, R.G., Brunner-Krainz, M., Alhaddad, B., Wortmann, S.B., Kovács-Nagy, R., Stojakovic, T., Erwa, W., Resch, B., Windischhofer, W., Verheyen, S., Uhrig, S., Windpassinger, C., Locker, F., Makowski, C., Strom, T.M., Meitinger, T., Prokisch, H., Sperl, W., Haack, T.B., Mayr, J.A.
المصدر: Oxidative Medicine and Cellular Longevity, Vol 2017 (2017)
Oxid. Med. Cell. Longev. 2017:7202589 (2017)مصطلحات موضوعية: Article Subject, lcsh:Cytology, lcsh:QH573-671
وصف الملف: text/xhtml; application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::2697cc2926024d3598ead41488b05586Test
https://doaj.org/article/bb411cd8a686456481675a5a4468e031Test -
3
المؤلفون: Mayr, J.A., Haack, T.B., Freisinger, P., Karall, D., Makowski, C.C., Koch, J., Feichtinger, R.G., Zimmermann, F.A., Rolinski, B., Ahting, U., Meitinger, T., Prokisch, H., Sperl, W.J.K.
المصدر: J. Inherit. Metab. Dis. 38, 629-640 (2015)
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=od______3474::b9105906516072a71160f73e4cb2786eTest
https://push-zb.helmholtz-muenchen.de/frontdoor.php?source_opus=43973Test -
4
المؤلفون: Magner, M., Dvorakova, V., Tesarova, M., Mazurova, S., Hansikova, H., Zahorec, M., Brennerova, K., Bzduch, V., Spiegel, R., Horovitz, Y., Mandel, H., Eminoglu, F.T., Mayr, J.A., Koch, J., Martinelli, D., Bertini, E., Konstantopoulou, V., Smet, J., Rahman, S., Broomfield, A., Stojanovic, V., Dionisi-Vici, C., Coster, R. van, Morava, E., Sperl, W., Zeman, J., Honzik, T.
المصدر: Journal of Inherited Metabolic Disease, 38, 583-4
Journal of Inherited Metabolic Disease, 38, 3, pp. 583-4وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::943e5db06645656e57327998ad38a39bTest
http://hdl.handle.net/2066/154072Test -
5
المؤلفون: Koch, J., Freisinger, P., Feichtinger, R.G., Zimmermann, F.A., Rauscher, C., Wagentristl, H.P., Konstantopoulou, V., Seidl, R., Haack, T.B., Prokisch, H., Ahting, U., Sperl, W., Mayr, J.A., Maier, E.M.
المصدر: Orphanet Journal of Rare Diseases
Orphanet J. Rare Dis. 10:40 (2015)مصطلحات موضوعية: Male, Adolescent, Loss of speech, Research, Infant, Newborn, Infant, Membrane Proteins, Neurodegenerative Diseases, Neurodegenerative disorder, Leigh syndrome, Regression, Hypertrophic Olivary Nucleus Degeneration, Leigh Syndrome, Loss Of Speech, Mitochondrial Respiratory Chain Complex Iii Deficiency, Neonatal Lactic Acidosis, Neurodegenerative Disorder, Ttc19, Mitochondrial Proteins, Neonatal lactic acidosis, Gene Expression Regulation, Child, Preschool, Mutation, Mitochondrial respiratory chain complex III deficiency, TTC19, Humans, Female, Amino Acid Sequence, Hypertrophic olivary nucleus degeneration, Cloning, Molecular, Child
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::ab01dd5c401e0f0d99ca4b96da89be5eTest
https://pubmed.ncbi.nlm.nih.gov/25887401Test -
6
المؤلفون: Gai, X., Ghezzi, D., Johnson, M.A., Biagosch, C., 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.-T., Pierce, E.A., Meitinger, T., Freisinger, P., Sperl, W., Prokisch, H., Alkuraya, F.S., Falk, M.J., Zeviani, M.
المصدر: Am. J. Hum. Genet. 93, 482-495 (2013)
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=od______3474::db3c7afbca2e1df07644592b44bf4877Test
https://push-zb.helmholtz-muenchen.de/frontdoor.php?source_opus=27457Test -
7
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 Investمصطلحات 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 -
8
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. 525-538مصطلحات 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