المؤلفون: Zaragoza, Michael V, Brandon, Martin C, Diegoli, Marta, Arbustini, Eloisa, Wallace, Douglas C

المصدر: European journal of human genetics : EJHG. 19(2)

مصطلحات موضوعية: Adolescent, Adult, Cardiomyopathies: genetics, pathology, Child, DNA, Mitochondrial: genetics, Databases, Genetic, Echocardiography, Female, Genes, Mitochondrial, Genetic Variation, Humans, Infant, Italy, Male, Middle Aged, Mitochondria: genetics, Mitochondrial Diseases: genetics, pathology, Mutation, Pedigree, Phylogeny, Sequence Analysis, DNA: methods

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/4sm8732p

المساهمون: Wong, Lee-jun C., Wong, Lee-Jun C.

مصطلحات موضوعية: Molecular Diagnostic Techniques., DNA, Mitochondrial -- analysis., Mitochondrial Diseases -- genetics., Mitochondrial Diseases -- diagnosis., Molecular Biology -- methods., Mitochondrial Diseases., Mitochondrial pathology., Laboratory Manuals.

المؤلفون: Asian Society for Mitochondrial Research and Medicine. Scientific Meeting (2nd : 2004 : Taipei, Taiwan)

المساهمون: Hsu, Chung Y., Lee, Horng-Mo., Wei, Y.-H. (Yau-Huei), New York Academy of Sciences.

مصطلحات موضوعية: Oxidative Stress -- genetics., Disease Models, Animal., Cell Death -- genetics., Cell Aging -- physiology., Mitochondrial Diseases -- physiopathology., Mitochondrial Diseases -- genetics., Mitochondria -- Congresses., Mitochondrial DNA -- Congresses., Mitochondrial pathology -- Congresses., Congresses., Conference papers and proceedings.

المساهمون: Holt, Ian James.

مصطلحات موضوعية: Mitochondrial pathology -- Genetic aspects., Mitochondrial DNA -- Abnormalities., Mitochondrial Diseases -- genetics.

المؤلفون: Sterky, Fredrik H.

مصطلحات موضوعية: Dopaminergic Neurons -- physiology, Dopaminergic Neurons -- ultrastructure, DNA, Mitochondrial -- genetics, DNA, Mitochondrial -- physiology, DNA, Mitochondrial -- ultrastructure, Mitochondrial Diseases -- genetics, Mitochondrial Diseases -- metabolism, Mitochondrial Diseases -- physiopathology, Parkinson Disease -- genetics, Parkinson Disease -- etiology, Brain -- pathology, Mitochondrial Proteins -- genetics, Mitochondrial Proteins -- metabolism, Electron Transport Complex 1 -- deficiency, Electron Transport Complex 1 -- physiology, Disease Models, Animal, Mice, Knockout

URL الوصول: http://hdl.handle.net/10616/40892

Degree: Diss. (sammanfattning) Stockholm : Karolinska institutet, 2012

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: Wredenberg, Anna

مصطلحات موضوعية: Mitochondria -- metabolism, Aging -- genetics, Mitochondrial diseases -- metabolism, Mitochondrial diseases -- genetics, Mitochondrial myopathies -- metabolism, Mitochondrial myopathies -- genetics, Muscle, skeletal -- metabolism, Aging, premature -- genetics, Mitochondria, muscle -- metabolism

URL الوصول: http://diss.kib.ki.se/2007/978-91-7357-311-5/

Degree: Diss. (sammanfattning) Stockholm : Karolinska institutet, 2007

المؤلفون: Anja Lisbeth Frederiksen, Knud Bonnet Yderstræde, John Vissing, Jakob Høgild Langdahl, Per Heden Andersen, Morten Frost

المصدر: Langdahl, J H, Frederiksen, A L, Vissing, J, Frost, M, Yderstræde, K B & Andersen, P H 2019, ' Mitochondrial mutation m.3243A >G associates with insulin resistance in non-diabetic carriers. ', Endocrine Connections, vol. 8, no. 7, pp. 829–837 . https://doi.org/10.1530/EC-19-0118
Endocrine Connections
Langdahl, J H, Frederiksen, A L, Vissing, J, Frost, M, Yderstræde, K B & Andersen, P H 2019, ' Mitochondrial mutation m.3243A >G associates with insulin resistance in non-diabetic carriers ', Endocrine Connections, vol. 8, no. 7, pp. 829-837 . https://doi.org/10.1530/EC-19-0118
Endocrine Connections, Vol 8, Iss 7, Pp 829-837 (2019)

مصطلحات موضوعية: 0301 basic medicine, medicine.medical_specialty, Waist, Endocrinology, Diabetes and Metabolism, Carbohydrate metabolism, Mitochondrial Diseases/genetics, lcsh:Diseases of the endocrine glands. Clinical endocrinology, Pathogenesis, 03 medical and health sciences, Grip strength, 0302 clinical medicine, Endocrinology, Insulin resistance, Monogenic diabetes, Internal medicine, Diabetes mellitus, insulin resistance, mitochondrial dysfunction, Internal Medicine, Medicine, 030212 general & internal medicine, Mitochondrial mutation, 030109 nutrition & dietetics, lcsh:RC648-665, business.industry, Research, Confounding, Diabetes, Mitochondrial DNA point mutation m.3243A>G, medicine.disease, monogenic diabetes, mitochondrial DNA point mutation m.3243A>G, business, Mitochondrial dysfunction

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f085afd825eade5ddbe87322553c5fe9
https://findresearcher.sdu.dk:8443/ws/files/151612210/_20493614_Endocrine_Connections_Mitochondrial_mutation_m.3243A_gt_G_associates_with_insulin_resistance_in_non_diabetic_carriers.pdf

المؤلفون: Kevin Coetzee, Peter Humaidan, Stine Gry Kristensen

المصدر: Kristensen, S G, Humaidan, P & Coetzee, K 2019, ' Mitochondria and reproduction : possibilities for testing and treatment ', Panminerva medica, vol. 61, no. 1, pp. 82-96 . https://doi.org/10.23736/S0031-0808.18.03510-3

مصطلحات موضوعية: Risk, Infertility, Infertility, Female/therapy, Mitochondrial DNA, Mitochondrial Diseases, Zygote, Mitochondrial replacement therapy, Embryonic Development, Fertilization in Vitro, Reproductive technology, Mitochondrial Diseases/genetics, 030204 cardiovascular system & hematology, Biomarkers/metabolism, Fertilization in Vitro/methods, Bioinformatics, DNA, Mitochondrial, Mammalian reproduction, 03 medical and health sciences, Oogenesis, 0302 clinical medicine, DNA, Mitochondrial/metabolism, Pregnancy, Mitochondria/metabolism, Animals, Humans, Medicine, Cell Nucleus, Clinical Trials as Topic, Genome, 030219 obstetrics & reproductive medicine, business.industry, Ovary, Oocytes/metabolism, Ovary/metabolism, Zygote/metabolism, Embryo, General Medicine, medicine.disease, Oocyte, Mitochondria, medicine.anatomical_structure, Oocytes, Female, business, Infertility, Female, Biomarkers

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1d25ca8c811fa3a819a79c8fc76aea0f
https://doi.org/10.23736/s0031-0808.18.03510-3

المؤلفون: Repp, Birgit M., Mastantuono, Elisa, Alston, Charlotte L., Schiff, Manuel, Haack, Tobias B., Rotig, Agnes, Ardissone, Anna, Lombes, Anne, Catarino, Claudia B., Diodato, Daria, Schottmann, Gudrun, Poulton, Joanna, Burlina, Alberto, Jonckheere, An, Munnich, Arnold, Rolinski, Boris, Ghezzi, Daniele, Rokicki, Dariusz, Wellesley, Diana, Martinelli, Diego, Ding, Wenhong, Lamantea, Eleonora, Ostergaard, Elsebet, Pronicka, Ewa, Pierre, Germaine, Smeets, Hubert J. M., Wittig, Ilka, Scurr, Ingrid, de Coo, Irenaeus F. M., Moroni, Isabella, Smet, Joel, Mayr, Johannes A., Dai, Lifang, de Meirleir, Linda, Schuelke, Markus, Zeviani, Massimo, Morscher, Raphael J., McFarland, Robert, Seneca, Sara, Klopstock, Thomas, Meitinger, Thomas, Wieland, Thomas, Strom, Tim M., Herberg, Ulrike, Ahting, Uwe, Sperl, Wolfgang, Nassogne, Marie-Cecile, Ling, Han, Fang, Fang, Freisinger, Peter, Van Coster, Rudy, Strecker, Valentina, Taylor, Robert W., Haberle, Johannes, Vockley, Jerry, Prokisch, Holger, Wortmann, Saskia

المساهمون: UCL - SSS/IONS - Institute of NeuroScience, UCL - SSS/IONS/NEUR - Clinical Neuroscience, UCL - (SLuc) Service de neurologie pédiatrique, Repp, B, Mastantuono, E, Alston, C, Schiff, M, Haack, T, Rötig, A, Ardissone, A, Lombès, A, Catarino, C, Diodato, D, Schottmann, G, Poulton, J, Burlina, A, Jonckheere, A, Munnich, A, Rolinski, B, Ghezzi, D, Rokicki, D, Wellesley, D, Martinelli, D, Wenhong, D, Lamantea, E, Ostergaard, E, Pronicka, E, Pierre, G, Smeets, H, Wittig, I, Scurr, I, De Coo, I, Moroni, I, Smet, J, Mayr, J, Dai, L, De Meirleir, L, Schuelke, M, Zeviani, M, Morscher, R, Mcfarland, R, Seneca, S, Klopstock, T, Meitinger, T, Wieland, T, Strom, T, Herberg, U, Ahting, U, Sperl, W, Nassogne, M, Ling, H, Fang, F, Freisinger, P, Van Coster, R, Strecker, V, Taylor, R, Häberle, J, Vockley, J, Prokisch, H, Wortmann, S, Apollo - University of Cambridge Repository, Reproduction and Genetics, Neurogenetics, Clinical sciences, Pediatrics, Medical Genetics, Neurology, RS: GROW - R4 - Reproductive and Perinatal Medicine, Klinische Genetica, RS: FHML MaCSBio

المصدر: Orphanet Journal of Rare Diseases
Orphanet journal of rare diseases 13(1), 120 (2018). doi:10.1186/s13023-018-0784-8
Orphanet Journal of Rare Diseases, Vol. 13, no. 1, p. 120 [1-10] (2018)
Orphanet journal of rare diseases
Repp, B M, Mastantuono, E, Alston, C L, Schiff, M, Haack, T B, Rötig, A, Ardissone, A, Lombès, A, Catarino, C B, Diodato, D, Schottmann, G, Poulton, J, Burlina, A, Jonckheere, A, Munnich, A, Rolinski, B, Ghezzi, D, Rokicki, D, Wellesley, D, Martinelli, D, Wenhong, D, Lamantea, E, Ostergaard, E, Pronicka, E, Pierre, G, Smeets, H J M, Wittig, I, Scurr, I, de Coo, I F M, Moroni, I, Smet, J, Mayr, J A, Dai, L, de Meirleir, L, Schuelke, M, Zeviani, M, Morscher, R J, McFarland, R, Seneca, S, Klopstock, T, Meitinger, T, Wieland, T, Strom, T M, Herberg, U, Ahting, U, Sperl, W, Nassogne, M-C, Ling, H, Fang, F, Freisinger, P, Van Coster, R, Strecker, V, Taylor, R W, Häberle, J, Vockley, J, Prokisch, H & Wortmann, S 2018, ' Clinical, biochemical and genetic spectrum of 70 patients with ACAD9 deficiency : is riboflavin supplementation effective? ', Orphanet Journal of Rare Diseases, vol. 13, 120 . https://doi.org/10.1186/s13023-018-0784-8
ORPHANET JOURNAL OF RARE DISEASES
Orphanet Journal of Rare Diseases, 13:120. BioMed Central Ltd.
Orphanet Journal of Rare Diseases, Vol 13, Iss 1, Pp 1-10 (2018)
Orphanet J. Rare Dis. 13:120 (2018)
Orphanet Journal of Rare Diseases, 13:120. BioMed Central Ltd

مصطلحات موضوعية: Electron Transport Complex I/metabolism, Male, Mitochondrial Diseases, genetics [Mitochondrial Diseases], PHENOTYPIC SPECTRUM, Riboflavin, therapeutic use [Riboflavin], lcsh:Medicine, Acidosis/genetics, Heart transplantation, OXIDATION, Acyl-CoA Dehydrogenase, drug therapy [Muscle Weakness], Neonatal, Activities Of Daily Living, Cardiomyopathy, Complex I, Heart Transplantation, Lactic Acidosis, Mitochondrial Disorder, Prognosis, Treatment, Vitamin, Activities of Daily Living, Medicine and Health Sciences, Genetics(clinical), Pharmacology (medical), Amino Acid Metabolism, Inborn Errors/genetics, Genetics (clinical), Cardiomyopathy, Hypertrophic/genetics, Muscle Weakness, genetics [Cardiomyopathy, Hypertrophic], Lactic acidosis, Inborn Errors, Activities of daily living, Riboflavin/therapeutic use, Mitochondrial disorder, metabolism [Acidosis], Lactic acidosi, metabolism [Mitochondrial Diseases], Acidosis, Amino Acid Metabolism, Inborn Errors, Cardiomyopathy, Hypertrophic, Electron Transport Complex I, Female, Humans, genetics [Muscle Weakness], SKELETAL-MUSCLE, pathology [Cardiomyopathy, Hypertrophic], pathology [Amino Acid Metabolism, Inborn Errors], DISORDERS, Prognosi, metabolism [Cardiomyopathy, Hypertrophic], pathology [Acidosis], Mitochondrial Diseases/genetics, DIAGNOSIS, metabolism [Acyl-CoA Dehydrogenase], Muscle Weakness/drug therapy, genetics [Amino Acid Metabolism, Inborn Errors], ddc:610, metabolism [Electron Transport Complex I], pathology [Muscle Weakness], MUTATIONS, deficiency [Acyl-CoA Dehydrogenase], Research, lcsh:R, Biology and Life Sciences, metabolism [Muscle Weakness], BEZAFIBRATE, Acyl-CoA Dehydrogenase/deficiency, metabolism [Amino Acid Metabolism, Inborn Errors], PAGE, Amino Acid Metabolism, pathology [Mitochondrial Diseases], Hypertrophic, CELLS, COMPLEX-I DEFICIENCY, genetics [Acidosis], Human medicine, genetics [Acyl-CoA Dehydrogenase]

وصف الملف: pdf; application/pdf; application/octet-stream

URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::bd4bd868f15234ec3bf494d814fdaf2e
https://pubmed.ncbi.nlm.nih.gov/30025539