المؤلفون: Garone, C, D'Souza, AR, Dallabona, C, Lodi, T, Rebelo-Guiomar, P, Rorbach, J, Donati, MA, Procopio, E, Montomoli, M, Guerrini, R, Zeviani, M, Calvo, SE, Mootha, VK, DiMauro, S, Ferrero, I, Minczuk, M

المصدر: Human molecular genetics. 26(21):4257-4266

مصطلحات موضوعية: Medicin och hälsovetenskap

URL الوصول: http://kipublications.ki.se/Default.aspx?queryparsed=id:136881560

المؤلفون: Garone, C.^{Aff1, Aff2, IDs1296702405041w_cor1}, De Giorgio, F., Carli, S.

المصدر: Journal of Translational Medicine. 22(1)

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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

URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::8ac8c0023b11fdbacad4cbc67120937c
http://europepmc.org/articles/PMC5630164

المؤلفون: Franzoni, E., Garone, C., Sarajlija, J., Gualandi, S., Malaspina, E., Cecconi, I., Moscano, F.C., Marchiani, V.

المصدر: In Seizure: European Journal of Epilepsy 2006 15(5):292-298

المؤلفون: Lopez-Gomez C., Levy R. J., Sanchez-Quintero M. J., Juanola-Falgarona M., Barca E., Garcia-Diaz B., Tadesse S., Garone C., Hirano M.

المساهمون: Lopez-Gomez C., Levy R.J., Sanchez-Quintero M.J., Juanola-Falgarona M., Barca E., Garcia-Diaz B., Tadesse S., Garone C., Hirano M.

مصطلحات موضوعية: nucleosides, tk2 deficiency

وصف الملف: ELETTRONICO

URL الوصول: https://explore.openaire.eu/search/publication?articleId=od______4094::de37fb6c8af79d267505106870519423
http://hdl.handle.net/11585/716595

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المؤلفون: COPPOLA G, FRANZONI E, VERROTTI A, GARONE C, SARAJLIJA J, FELICIA OPERTO F, PASCOTTO, Antonio

المساهمون: Coppola, G, Franzoni, E, Verrotti, A, Garone, C, Sarajlija, J, FELICIA OPERTO, F, Pascotto, Antonio

URL الوصول: https://explore.openaire.eu/search/publication?articleId=od______3977::f1ee2d82b87bae2fa8c94a171b08afa7
http://hdl.handle.net/11591/185916