المؤلفون: Yepez V. A., Gusic M., Kopajtich R., Mertes C., Smith N. H., Alston C. L., Ban R., Beblo S., Berutti R., Blessing H., Ciara E., Distelmaier F., Freisinger P., Haberle J., Hayflick S. J., Hempel M., Itkis Y. S., Kishita Y., Klopstock T., Krylova T. D., Lamperti C., Lenz D., Makowski C., Mosegaard S., Muller M. F., Munoz-Pujol G., Nadel A., Ohtake A., Okazaki Y., Procopio E., Schwarzmayr T., Smet J., Staufner C., Stenton S. L., Strom T. M., Terrile C., Tort F., Van Coster R., Vanlander A., Wagner M., Xu M., Fang F., Ghezzi D., Mayr J. A., Piekutowska-Abramczuk D., Ribes A., Rotig A., Taylor R. W., Wortmann S. B., Murayama K., Meitinger T., Gagneur J., Prokisch H.

المساهمون: V.A. Yepez, M. Gusic, R. Kopajtich, C. Merte, N.H. Smith, C.L. Alston, R. Ban, S. Beblo, R. Berutti, H. Blessing, E. Ciara, F. Distelmaier, P. Freisinger, J. Haberle, S.J. Hayflick, M. Hempel, Y.S. Itki, Y. Kishita, T. Klopstock, T.D. Krylova, C. Lamperti, D. Lenz, C. Makowski, S. Mosegaard, M.F. Muller, G. Munoz-Pujol, A. Nadel, A. Ohtake, Y. Okazaki, E. Procopio, T. Schwarzmayr, J. Smet, C. Staufner, S.L. Stenton, T.M. Strom, C. Terrile, F. Tort, R. Van Coster, A. Vanlander, M. Wagner, M. Xu, F. Fang, D. Ghezzi, J.A. Mayr, D. Piekutowska-Abramczuk, A. Ribe, A. Rotig, R.W. Taylor, S.B. Wortmann, K. Murayama, T. Meitinger, J. Gagneur, H. Prokisch

مصطلحات موضوعية: Genetic diagnostic, Mendelian disease, RNA-seq, Allele, Human, Sequence Analysis, RNA, Whole Exome Sequencing, Transcriptome, Settore MED/03 - Genetica Medica, Settore BIO/11 - Biologia Molecolare

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/35379322; info:eu-repo/semantics/altIdentifier/wos/WOS:000778002100001; volume:14; issue:1; firstpage:1; lastpage:26; numberofpages:26; journal:GENOME MEDICINE; https://hdl.handle.net/2434/926220Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85127470335

الإتاحة: https://doi.org/10.1186/s13073-022-01019-9Test
https://hdl.handle.net/2434/926220Test

المؤلفون: Drovandi, S., Lipska-Ziętkiewicz, B.S., Ozaltin, F., Emma, F., Gulhan, B., Boyer, O., Trautmann, A., Xu, H., Shen, Q., Rao, J., Riedhammer, K.M., Heemann, U., Hoefele, J., Stenton, S., Tsygin, A.N., Ng, K.H., Fomina, S., Benetti, E., Aurelle, M., Prikhodina, L., Schreuder, M.F., Tabatabaeifar, M., Jankowski, M., Baiko, S., Mao, J., Feng, C., Liu, C., Sun, S., Deng, F., Wang, X., Clavé, S., Stańczyk, M., Bałasz-Chmielewska, I., Fila, M., Durkan, A.M., Levart, T.K., Dursun, I., Esfandiar, N., Haas, D., Bjerre, A., Anarat, A., Benz, M.R., Talebi, S., Hooman, N., Ariceta, G., Schaefer, F.

المصدر: Kidney Int. 102, 604-612 (2022)

مصطلحات موضوعية: Coq2, Coq6, Coq8b, Coq(10) Supplementation Therapy, Eskd, Coenzyme Q(10) Deficiency, Genetic Kidney Disease, Hereditary, Kidney Survival, Outcome, Proteinuria Reduction

وصف الملف: application/pdf

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/35643375; info:eu-repo/semantics/altIdentifier/isbn/0085-2538; info:eu-repo/semantics/altIdentifier/pissn/0085-2538; info:eu-repo/semantics/altIden; https://push-zb.helmholtz-muenchen.de/frontdoor.php?source_opus=65475Test; urn:isbn:0085-2538; urn:issn:0085-2538; urn:issn:1523-1755

الإتاحة: https://doi.org/10.1016/j.kint.2022.04.029Test
https://push-zb.helmholtz-muenchen.de/frontdoor.php?source_opus=65475Test

المؤلفون: Drovandi, S., Lipska-Ziętkiewicz, B.S., Ozaltin, F., Emma, F., Gulhan, B., Boyer, O., Trautmann, A., Zietkiewicz, S., Xu, H., Shen, Q., Rao, J.L., Riedhammer, K.M., Heemann, U., Hoefele, J., Stenton, S., Tsygin, A.N., Ng, K.H., Fomina, S., Benetti, E., Aurelle, M., Prikhodina, L., Schijvens, A.M., Tabatabaeifar, M., Jankowski, M., Baiko, S., Mao, J., Feng, C., Deng, F., Rousset-Rouviere, C., Stańczyk, M., Bałasz-Chmielewska, I., Fila, M., Durkan, A.M., Levart, T.K., Dursun, I., Esfandiar, N., Haas, D., Bjerre, A., Anarat, A., Benz, M.R., Talebi, S., Hooman, N., Ariceta, G., Schaefer, F.

المصدر: Kidney Int. 102, 592-603 (2022)

مصطلحات موضوعية: Coenzyme Q10, Mitochondria, Steroid-resistant Nephrotic Syndrome

وصف الملف: application/pdf

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/35483523; info:eu-repo/semantics/altIdentifier/isbn/0085-2538; info:eu-repo/semantics/altIdentifier/pissn/0085-2538; info:eu-repo/semantics/altIden; https://push-zb.helmholtz-muenchen.de/frontdoor.php?source_opus=65036Test; urn:isbn:0085-2538; urn:issn:0085-2538; urn:issn:1523-1755

الإتاحة: https://doi.org/10.1016/j.kint.2022.02.040Test
https://push-zb.helmholtz-muenchen.de/frontdoor.php?source_opus=65036Test

المؤلفون: Stenton, S., Tesarova, M., Sheremet, N.L., Catarino, C., Carelli, V., Ciara, E., Curry, K., Engvall, M., Fleming, L.R., Freisinger, P., Iwanicka-Pronicka, K., Jurkiewicz, E., Klopstock, T., Koenig, M.K., Kolářová, H., Kousal, B., Krylova, T., La Morgia, C., Nosková, L., Piekutowska-Abramczuk, D., Russo, S.N., Stránecký, V., Tóthová, I., Träisk, F., Prokisch, H.

المصدر: Brain 145, 1624-1631 (2022)

مصطلحات موضوعية: Dnajc30, Lhon, Leigh Syndrome, Mitochondrial Disease

وصف الملف: application/pdf

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/35148383; info:eu-repo/semantics/altIdentifier/wos/WOS:000790918400001; info:eu-repo/semantics/altIdentifier/isbn/0006-8950; info:eu-repo/semantics/altI; https://push-zb.helmholtz-muenchen.de/frontdoor.php?source_opus=64376Test; urn:isbn:0006-8950; urn:issn:0006-8950; urn:issn:1460-2156

الإتاحة: https://doi.org/10.1093/brain/awac052Test
https://push-zb.helmholtz-muenchen.de/frontdoor.php?source_opus=64376Test

المؤلفون: Stenton, S., Piekutowska-Abramczuk, D., Kulterer, L., Kopajtich, R., Claeys, K.G., Ciara, E., Eisen, J., Płoski, R., Pronicka, E., Malczyk, K., Wagner, M., Wortmann, S.B., Prokisch, H.

المصدر: Hum. Mutat. 42, 310-319 (2021)

مصطلحات موضوعية: Functional Validation, Leigh Syndrome, Mitochondrial Disease, Phenotype, Variant Of Uncertain Significance

وصف الملف: application/pdf

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/33348459; info:eu-repo/semantics/altIdentifier/wos/WOS:000604115700001; info:eu-repo/semantics/altIdentifier/isbn/1059-7794; info:eu-repo/semantics/altIden; https://push-zb.helmholtz-muenchen.de/frontdoor.php?source_opus=60970Test; urn:isbn:1059-7794; urn:issn:1059-7794; urn:issn:1098-1004

الإتاحة: https://doi.org/10.1002/humu.24160Test
https://push-zb.helmholtz-muenchen.de/frontdoor.php?source_opus=60970Test

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: Tan, J., Wagner, M., Stenton, S., Strom, T.M., Wortmann, S.B., Prokisch, H., Meitinger, T., Oexle, K., Klopstock, T.

المصدر: EBioMedicine 54:102730 (2020)

مصطلحات موضوعية: Autosomal Recessive Mitochondrial Disorders, Population Genetics, Prevalence, Lifetime Risk, Polg, Spg7

وصف الملف: application/pdf

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/32305867; info:eu-repo/semantics/altIdentifier/wos/WOS:000531578300003; info:eu-repo/semantics/altIdentifier/isbn/2352-3964; info:eu-repo/semantic; https://push-zb.helmholtz-muenchen.de/frontdoor.php?source_opus=58886Test; urn:isbn:2352-3964; urn:issn:2352-3964

الإتاحة: https://doi.org/10.1016/j.ebiom.2020.102730Test
https://push-zb.helmholtz-muenchen.de/frontdoor.php?source_opus=58886Test

المؤلفون: Zhou, L., Deng, J., Stenton, S., Zhou, J., Li, H., Chen, C., Prokisch, H., Fang, F.

المصدر: Front. Pharmacol. 11:608737 (2020)

مصطلحات موضوعية: Anaemia With Anisopoikilocytosis, Cad Deficiency, Developmental Delay, Epilepsy, Uridine

وصف الملف: application/pdf

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/33364968; info:eu-repo/semantics/altIdentifier/wos/WOS:000600387400001; info:eu-repo/semantics/altIdentifier/isbn/1663-9812; info:eu-repo/semantics/; https://push-zb.helmholtz-muenchen.de/frontdoor.php?source_opus=60865Test; urn:isbn:1663-9812; urn:issn:1663-9812

الإتاحة: https://doi.org/10.3389/fphar.2020.608737Test
https://push-zb.helmholtz-muenchen.de/frontdoor.php?source_opus=60865Test

المؤلفون: Esposito, A., Falace, A., Wagner, M., Gal, M., Mei, D., Conti, V., Pisano, T., Aprile, D., Cerullo, M.S., De Fusco, A., Giovedì, S., Seibt, A., Magen, D., Polster, T., Eran, A., Stenton, S., Fiorillo, C., Ravid, S., Mayatepek, E., Hafner, H., Wortmann, S.B., Levanon, E.Y., Marini, C., Mandel, H., Benfenati, F., Distelmaier, F., Fassio, A., Guerrini, R.

المصدر: Brain 142, 3876-3891 (2019)

مصطلحات موضوعية: Autophagy, Developmental And Epileptic Encephalopathy, Neuropathy, Ohtahara Syndrome, Progressive Disorder

وصف الملف: application/pdf

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/31688942; info:eu-repo/semantics/altIdentifier/wos/WOS:000504324300026; info:eu-repo/semantics/altIdentifier/isbn/0006-8950; info:eu-repo/semantics/altId; https://push-zb.helmholtz-muenchen.de/frontdoor.php?source_opus=57270Test; urn:isbn:0006-8950; urn:issn:0006-8950; urn:issn:1460-2156

الإتاحة: https://doi.org/10.1093/brain/awz326Test
https://push-zb.helmholtz-muenchen.de/frontdoor.php?source_opus=57270Test

المؤلفون: Echevarria, C, Steer, J, Heslop-Marshall, K, Stenton, S C, Hickey, P M, Hughes, R, Wijesinghe, M, Harrison, R N, Steen, N, Simpson, A J, Gibson, G J, Bourke, S C

المصدر: Thorax ; volume 72, issue 8, page 686-693 ; ISSN 0040-6376 1468-3296

الإتاحة: https://doi.org/10.1136/thoraxjnl-2016-209298Test