المؤلفون: Kaiyrzhanov, R., Mohammed, S.E.M., Maroofian, R., Husain, R.A., Catania, A., Torraco, A., Alahmad, A., Dutra-Clarke, M., Grønborg, S., Sudarsanam, A., Vogt, J., Arrigoni, F., Baptista, J., Haider, S., Feichtinger, R.G., Bernardi, P., Zulian, A., Gusic, M., Efthymiou, S., Bai, R., Bibi, F., Horga, A., Martinez-Agosto, J.A., Lam, A., Manole, A., Rodriguez, D.P., Durigon, R., Pyle, A., Albash, B., Dionisi-Vici, C., Murphy, D., Martinelli, D., Bugiardini, E., Allis, K., Lamperti, C., Reipert, S., Risom, L., Laugwitz, L., Di Nottia, M., McFarland, R., Vilarinho, L., Hanna, M., Prokisch, H., Mayr, J.A., Bertini, E.S., Ghezzi, D., Østergaard, E., Wortmann, S., Carrozzo, R., Haack, T.B., Taylor, R.W., Spinazzola, A., Nowikovsky, K., Houlden, H.

المصدر: Am. J. Hum. Genet. 109, 1692-1712 (2022)

مصطلحات موضوعية: Genetics, Letm1, Mitochondria, Mitochondrial Diseases, Neurodegeneration, Neurology, Oxidative Phosphorylation, Potassium Transport, Volume Homeostasis, Wolf-hirschhorn Syndrome

وصف الملف: application/pdf

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/36055214; info:eu-repo/semantics/altIdentifier/wos/WOS:000877624100011; info:eu-repo/semantics/altIdentifier/isbn/0002-9297; info:eu-repo/semantics; https://push-zb.helmholtz-muenchen.de/frontdoor.php?source_opus=66080Test; urn:isbn:0002-9297; urn:issn:0002-9297; urn:issn:1537-6605

الإتاحة: https://doi.org/10.1016/j.ajhg.2022.07.007Test
https://push-zb.helmholtz-muenchen.de/frontdoor.php?source_opus=66080Test

المؤلفون: El-Hattab, A.W., Dai, H., Almannai, M., Wang, J., Faqeih, E.A., Al Asmari, A., Saleh, M.A.M., Elamin, M.A.O., Alfadhel, M., Alkuraya, F.S., Hashem, M., Aldosary, M.S., Almass, R., Almutairi, F.B., Alsagob, M., Al-Owain, M., Al-Sharfa, S., Al-Hassnan, Z.N., Rahbeeni, Z., Al-Muhaizea, M.A., Makhseed, N., Foskett, G.K., Stevenson, D.A., Gomez-Ospina, N., Lee, C., Boles, R.G., Schrier Vergano, S.A., Wortmann, S.B., Sperl, W., Opladen, T., Hoffmann, G.F., Hempel, M., Prokisch, H., Alhaddad, B., Mayr, J.A., Chan, W., Kaya, N., Wong, L.J.C.

المصدر: Hum. Mutat. 38, 1649-1659 (2017)

مصطلحات موضوعية: Fbxl4, Mitochondrial Diseases, Mitochondrial Dna Depletion, Mitochondrial Dna Maintenance, Mtdna

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/28940506; info:eu-repo/semantics/altIdentifier/wos/WOS:000414241200002; info:eu-repo/semantics/altIdentifier/isbn/1059-7794; info:eu-repo/semantics/altIden; https://push-zb.helmholtz-muenchen.de/frontdoor.php?source_opus=52274Test; urn:isbn:1059-7794; urn:issn:1059-7794; urn:issn:1098-1004

الإتاحة: https://doi.org/10.1002/humu.23341Test
https://push-zb.helmholtz-muenchen.de/frontdoor.php?source_opus=52274Test

المؤلفون: Prokisch, H., Sperl, W., Meitinger, T., Mayr, J.A.

المصدر: Med. Genet. 27, 282-287 (2015)

مصطلحات موضوعية: Diagnostic Cascade, Energy Metabolism, Exome Sequencing, Gene Therapy, Mitochondrial Diseases

العلاقة: info:eu-repo/semantics/altIdentifier/wos/WOS:000364012800004; info:eu-repo/semantics/altIdentifier/isbn/0936-5931; info:eu-repo/semantics/altIdentifier/pissn/0936-5931; info:eu-repo/semantic; https://push-zb.helmholtz-muenchen.de/frontdoor.php?source_opus=46825Test; urn:isbn:0936-5931; urn:issn:0936-5931; urn:issn:1863-5490

الإتاحة: https://doi.org/10.1007/s11825-015-0061-3Test
https://push-zb.helmholtz-muenchen.de/frontdoor.php?source_opus=46825Test

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. 525-538

مصطلحات 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