المؤلفون: Bader, Ingrid, Decker, E., Mayr, J.A., Lunzer, V., Koch, J., Boltshauser, E., Sperl, W., Pietsch, P., Ertl-Wagner, B., Bolz, H., Bergmann, C., Rittinger, O.

المصدر: European Journal of Medical Genetics ; volume 59, issue 8, page 386-391 ; ISSN 1769-7212

مصطلحات موضوعية: Genetics (clinical), Genetics, General Medicine

الإتاحة: https://doi.org/10.1016/j.ejmg.2016.06.007Test
https://api.elsevier.com/content/article/PII:S1769721216301720?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S1769721216301720?httpAccept=text/plainTest

المؤلفون: Escobar, J.D. Ortigoza, Molero-Luis, M., Arias, A., Darin, N., Casado, M., Serrano, M., Tondo, M., Mayr, J.A., Ribes, A., Artuch, R., Pérez-Dueñas, B.

المصدر: European Journal of Paediatric Neurology ; volume 19, page S2-S3 ; ISSN 1090-3798

مصطلحات موضوعية: Neurology (clinical), General Medicine, Pediatrics, Perinatology and Child Health

الإتاحة: https://doi.org/10.1016/s1090-3798Test(15)30007-6
https://api.elsevier.com/content/article/PII:S1090379815300076?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S1090379815300076?httpAccept=text/plainTest

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