المؤلفون: Feichtinger, R.G., Oláhová, 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, vol. 101, no. 4, pp. 525-538

مصطلحات موضوعية: Adult, Age of Onset, Aged, Alleles, Amino Acid Sequence, Animals, Cardiomyopathies/complications, Cardiomyopathies/genetics, Cardiomyopathies/pathology, Carrier Proteins/chemistry, Carrier Proteins/genetics, Carrier Proteins/metabolism, Cells, Cultured, Child, Preschool, Cohort Studies, DNA, Mitochondrial, Electron Transport/physiology, Embryo, Mammalian/metabolism, Mammalian/pathology, Female, Fibroblasts/metabolism, Fibroblasts/pathology, Humans, Infant, Newborn, Male

وصف الملف: application/pdf

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/28942965; info:eu-repo/semantics/altIdentifier/eissn/1537-6605; info:eu-repo/semantics/altIdentifier/urn/urn:nbn:ch:serval-BIB_C1BEEDEE0B331; https://serval.unil.ch/notice/serval:BIB_C1BEEDEE0B33Test; https://europepmc.org/articles/PMC5630164Test; urn:issn:0002-9297; https://serval.unil.ch/resource/serval:BIB_C1BEEDEE0B33.P001/REF.pdfTest; http://nbn-resolving.org/urn/resolver.pl?urn=urn:nbn:ch:serval-BIB_C1BEEDEE0B331Test

الإتاحة: https://doi.org/10.1016/j.ajhg.2017.08.015Test
https://serval.unil.ch/notice/serval:BIB_C1BEEDEE0B33Test
https://europepmc.org/articles/PMC5630164Test
https://serval.unil.ch/resource/serval:BIB_C1BEEDEE0B33.P001/REF.pdfTest
http://nbn-resolving.org/urn/resolver.pl?urn=urn:nbn:ch:serval-BIB_C1BEEDEE0B331Test

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

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