المؤلفون: Brunet, T., Zott, B., Lieftüchter, V., Lenz, D., Schmidt, A., Peters, P., Kopajtich, R., Zaddach, M., Zimmermann, H., Hüning, I., Ballhausen, D., Staufner, C., Bianzano, A., Hughes, J., Taylor, R.W., McFarland, R., Devlin, A., Mihaljević, M., Barišić, N., Rohlfs, M., Wilfling, S., Sondheimer, N., Hewson, S., Marinakis, N.M., Kosma, K., Traeger-Synodinos, J., Elbracht, M., Begemann, M., Trepels-Kottek, S., Hasan, D., Scala, M., Capra, V., Zara, F., van der Ven, A.T., Driemeyer, J., Apitz, C., Krämer, J., Strong, A., Hakonarson, H., Watson, D., Mayr, J.A., Prokisch, H., Meitinger, T., Borggraefe, I., Spiegler, J., Baric, I., Paolini, M., Gerstl, L., Wagner, M.

المصدر: Genetics in medicine, vol. 26, no. 2, pp. 101013

مصطلحات موضوعية: Humans, Child, Moyamoya Disease/genetics, Leigh Disease/complications, Transcription Factors/genetics, Ubiquitin-Protein Ligases/genetics, Stroke, Zinc, Genetic Predisposition to Disease, Adenosine Triphosphatases/genetics, RNF213, exome sequencing, leigh syndrome, moyamoya

Relation: info:eu-repo/semantics/altIdentifier/pmid/37924258; info:eu-repo/semantics/altIdentifier/eissn/1530-0366; https://serval.unil.ch/notice/serval:BIB_B19DE60BFB37

الاتاحة: https://serval.unil.ch/notice/serval:BIB_B19DE60BFB37
https://doi.org/10.1016/j.gim.2023.101013

المؤلفون: van der Ven, A.T., Johannsen, J., Kortüm, F., Wagner, M., Tsiakas, K., Bierhals, T., Lessel, D., Herget, T., Kloth, K., Lisfeld, J., Scholz, T., Obi, N., Wortmann, S.B., Prokisch, H., Kubisch, C., Denecke, J., Santer, R., Hempel, M.

المصدر: Clin. Genet., DOI:10.1111/cge.14061 (2021)

مصطلحات موضوعية: Child Development Disorders, Early Diagnosis, Medical Genetics, Mitochondria, Whole Exome Sequencing

وصف الملف: application/pdf

Relation: info:eu-repo/semantics/altIdentifier/pmid/34490615; info:eu-repo/semantics/altIdentifier/wos/WOS:000697151400001; info:eu-repo/semantics/altIdentifier/isbn/0009-9163; info:eu-repo/semantics/altIdent; https://push-zb.helmholtz-muenchen.de/frontdoor.php?source_opus=62949; urn:isbn:0009-9163; urn:issn:0009-9163; urn:issn:1399-0004

الاتاحة: https://push-zb.helmholtz-muenchen.de/frontdoor.php?source_opus=62949
https://doi.org/10.1111/cge.14061

المؤلفون: van der Ven, A.T., Cabrera-Orefice, A., Wente, I., Feichtinger, R.G., Tsiakas, K., Weiss, D., Bierhals, T., Scholle, L., Prokisch, H., Kopajtich, R., Santer, R., Mayr, J.A., Hempel, M., Wittig, I.

المصدر: Mol. Genet. Metab. 140:107675 (2023)

مصطلحات موضوعية: Complexome Profiling, Exome Sequencing, Intellectual And Developmental Disability, Metabolic Disorder, Mitochondria

Relation: info:eu-repo/semantics/altIdentifier/pmid/37572574; info:eu-repo/semantics/altIdentifier/wos/001063061000001; info:eu-repo/semantics/altIdentifier/isbn/1096-7192; info:eu-repo/semantics/al

الاتاحة: https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=68003
https://doi.org/10.1016/j.ymgme.2023.107675

المؤلفون: Ashraf S., Rao J., Tan W., Van Der Ven A.T., Gee H.Y., Braun D.A., Fehér K., George S.P., Esmaeilniakooshkghazi A., Choi W.-I., Jobst-Schwan T., Schneider R., Schmidt J.M., Widmeier E., Warejko J.K., Hermle T., Schapiro D., Lovric S., Shril S., Daga A., Nayir A., Shenoy M., Tse Y., Bald M., Helmchen U., Mir S., Kari J.A., El Desoky S., Soliman N.A., Bagga A., Mane S., Jairajpuri M.A., Lifton R.P., Khurana S., Martins J.C., Hildebrandt F., Berdeli A.

Relation: Makale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanı; Journal of Clinical Investigation; https://hdl.handle.net/11454/25349; https://doi.org/10.1172/JCI94138; 127; 12; 4257; 4269

الاتاحة: https://hdl.handle.net/11454/25349
https://doi.org/10.1172/JCI94138

المؤلفون: Stenton, S., Sheremet, N.L., Catarino, C.B., Andreeva, N., Assouline, Z., Barboni, P., Barel, O., Berutti, R., Bychkov, I.O., Caporali, L., Capristo, M., Carbonelli, M., Cascavilla, M.L., Charbel Issa, P., Freisinger, P., Gerber, S., Ghezzi, D., Graf, E., Heidler, J., Hempel, M., Héon, E., Itkis, Y.S., Javasky, E., Kaplan, J., Kopajtich, R., Kornblum, C., Kovács-Nagy, R., Krylova, T., Kunz, W.S., La Morgia, C., Lamperti, C., Ludwig, C., Malacarne, P.F., Maresca, A., Mayr, J.A., Meisterknecht, J., Nevinitsyna, T., 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., Zhorzholadze, N., Rozet, J.M., Carelli, V., Tsygankova, P., Klopstock, T., Wittig, I., Prokisch, H.

المصدر: J. Clin. Invest. 131:e138267 (2021)

مصطلحات موضوعية: Genetic Diseases, Genetics, Neuroscience

Relation: info:eu-repo/semantics/altIdentifier/pmid/33465056; info:eu-repo/semantics/altIdentifier/wos/WOS:000663118600006; info:eu-repo/semantics/altIdentifier/isbn/0021-9738; info:eu-repo/semantics/altIdent

الاتاحة: https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=61088
https://doi.org/10.1172/JCI138267

المؤلفون: Vivante, A., Mann, N., Yonath, H., Weiss, A.C., Getwan, M., Kaminski, M.M., Bohnenpoll, T., Teyssier, C., Chen, J., Shril, S., van der Ven, A.T., Ityel, H., Schmidt, J.M., Widmeier, E., Bauer, S.B., Sanna-Cherchi, S., Gharavi, A.G., Lu, W., Magen, D., Shukrun, R., Lifton, R.P., Tasic, V., Stanescu, H.C., Cavaillès, V., Kleta, R., Anikster, Y., Dekel, B., Kispert, A., Lienkamp, S.S., Hildebrandt, F.

مصطلحات موضوعية: Cardiovascular and Metabolic Diseases

Relation: A dominant mutation in nuclear receptor interacting protein 1 causes urinary tract malformations via dysregulation of retinoic acid signaling. Vivante, A. and Mann, N. and Yonath, H. and Weiss, A.C. and Getwan, M. and Kaminski, M.M. and Bohnenpoll, T. and Teyssier, C. and Chen, J. and Shril, S. and van der Ven, A.T. and Ityel, H. and Schmidt, J.M. and Widmeier, E. and Bauer, S.B. and Sanna-Cherchi, S. and Gharavi, A.G. and Lu, W. and Magen, D. and Shukrun, R. and Lifton, R.P. and Tasic, V. and Stanescu, H.C. and Cavaillès, V. and Kleta, R. and Anikster, Y. and Dekel, B. and Kispert, A. and Lienkamp, S.S. and Hildebrandt, F. Journal of the American Society of Nephrology 28 (8): 2364-2376. August 2017

الاتاحة: http://edoc.mdc-berlin.de/18760/
https://edoc.mdc-berlin.de/18760/
https://doi.org/10.1681/ASN.2016060694

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

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::24bf545cda9fb173a8ffc9ec90e829e6
https://doi.org/10.1172/jci138267