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1دورية أكاديمية
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
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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. 525-538مصطلحات 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
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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 -
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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 Ltdمصطلحات 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
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المؤلفون: Mette Neland, Flemming Wibrand, Elsebet Ostergaard, Morten Duno, Kirstine Ravn
المصدر: Ravn, K, Neland, M, Wibrand, F, Duno, M & Ostergaard, E 2016, ' Hearing impairment and renal failure associated with RMND1 mutations ', American Journal of Medical Genetics. Part A, vol. 170, no. 1, pp. 142–147 . https://doi.org/10.1002/ajmg.a.37399
مصطلحات موضوعية: 0301 basic medicine, Male, Mitochondrial Diseases, Respiratory chain, Cell Cycle Proteins, Bioinformatics, Compound heterozygosity, Renal Insufficiency/genetics, Renal Insufficiency, Child, Genetics (clinical), Exome sequencing, RMND1, medicine.diagnostic_test, Phenotype, Hypotonia, Mitochondrial disorder, Mitochondria, Pedigree, Whole-exome sequencing, Child, Preschool, Female, medicine.symptom, medicine.medical_specialty, Renal failure, Mutation/genetics, Adolescent, Respiratory Chain Deficiency, Encephalopathy, Molecular Sequence Data, Mitochondrial Diseases/genetics, Hearing impairment, 03 medical and health sciences, Western blot, Internal medicine, Hearing Loss/genetics, Genetics, medicine, Humans, Amino Acid Sequence, Hearing Loss, Cell Cycle Proteins/genetics, Sequence Homology, Amino Acid, business.industry, Infant, Newborn, Infant, medicine.disease, 030104 developmental biology, Endocrinology, Protein Biosynthesis, Mutation, Mitochondria/genetics, business