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1. Full Text Mitochondrial ATP synthase: architecture, function and pathology
by Jonckheere, A.I and Smeitink, J.A.M and Rodenburg, R.J.T
Journal of inherited metabolic disease, ISSN 0141-8955, 2012, Volume 35, Issue 2, pp. 211 - 225
Human Genetics | Biochemistry, general | Pediatrics | Internal Medicine | Medicine & Public Health | Metabolic Diseases | Endocrinology & Metabolism | Genetics & Heredity | Life Sciences & Biomedicine | Medicine, Research & Experimental | Science & Technology | Research & Experimental Medicine | Biological and medical sciences | Metabolic diseases | Medical sciences | Medical genetics | Mitochondrial Proton-Translocating ATPases - genetics | Mitochondria - enzymology | Animals | Mitochondria - genetics | Adenosine Triphosphate - metabolism | Humans | Adenosine Diphosphate - metabolism | Mitochondria - pathology | Mitochondrial Proton-Translocating ATPases - metabolism | Oligomers | Index Medicus | Review
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2. Full Text Pathogenic variants in glutamyl-tRNAGln amidotransferase subunits cause a lethal mitochondrial cardiomyopathy disorder
by Friederich, Marisa W and Timal, Sharita and Powell, Christopher A and Dallabona, Cristina and Kurolap, Alina and Palacios-Zambrano, Sara and Bratkovic, Drago and Derks, Terry G. J and Bick, David and Bouman, Katelijne and Chatfield, Kathryn C and Damouny-Naoum, Nadine and Dishop, Megan K and Falik-Zaccai, Tzipora C and Fares, Fuad and Fedida, Ayalla and Ferrero, Ileana and Gallagher, Renata C and Garesse, Rafael and Gilberti, Micol and González, Cristina and Gowan, Katherine and Habib, Clair and Halligan, Rebecca K and Kalfon, Limor and Knight, Kaz and Lefeber, Dirk and Mamblona, Laura and Mandel, Hanna and Mory, Adi and Ottoson, John and Paperna, Tamar and Pruijn, Ger J. M and Rebelo-Guiomar, Pedro F and Saada, Ann and Sainz, Bruno and Salvemini, Hayley and Schoots, Mirthe H and Smeitink, Jan A and Szukszto, Maciej J and ter Horst, Hendrik J and van den Brandt, Frans and van Spronsen, Francjan J and Veltman, Joris A and Wartchow, Eric and Wintjes, Liesbeth T and Zohar, Yaniv and Fernández-Moreno, Miguel A and Baris, Hagit N and Donnini, Claudia and Minczuk, Michal and Rodenburg, Richard J and Van Hove, Johan L. K
Nature communications, ISSN 2041-1723, 12/2018, Volume 9, Issue 1, pp. 1 - 14
Pathogens | Charging | Aminoacylation | tRNA | Cardiomyopathy | Disorders | Amino acids | Homology | Protein biosynthesis | Patients | Defects | Proteins | Pathogenicity | Mitochondria | Protein synthesis | Fibroblasts | Electron transport | Glutamine | Index Medicus
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3. Full Text A post-hoc comparison of the utility of sanger sequencing and exome sequencing for the diagnosis of heterogeneous diseases
by Neveling, K and Feenstra, I and Gilissen, C and Hoefsloot, L.H and Kamsteeg, E.J and Mensenkamp, A.R and Rodenburg, R.J.T and Yntema, H.G and Spruijt, L and Vermeer, S and Rinne, T and Gassen, K.L.I. van and Bodmer, D and Lugtenberg, D and Reuver, R. de and Buijsman, W and Derks, R.C and Wieskamp, N and Heuvel, B. van den and Ligtenberg, M.J.L and Kremer, H and Koolen, D.A and Warrenburg, B.P.C. van de and Cremers, F.P.M and Marcelis, C.L.M and Smeitink, J.A.M and Wortmann, S.B and Zelst-Stams, W.A.G. van and Veltman, J.A and Brunner, H.G and Scheffer, H and Nelen, M.R
Human mutation, ISSN 1059-7794, 2013, Volume 34, Issue 12, pp. 1721 - 1726
genome diagnostics | exome sequencing | NGS | heterogeneous diseases | diagnostic yield | Diagnostic yield | Heterogeneous diseases | Genome diagnostics | Exome sequencing | Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Exome | Genetic Testing | Humans | Genetic Diseases, Inborn - genetics | Sequence Analysis, DNA - standards | High-Throughput Nucleotide Sequencing - methods | Genetic Counseling | Genetic Diseases, Inborn - diagnosis | Sequence Analysis, DNA - methods | High-Throughput Nucleotide Sequencing - standards | Comparative analysis | Nucleotide sequencing | DNA sequencing | Index Medicus
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4. Full Text A Mutation in C2orf64 Causes Impaired Cytochrome c Oxidase Assembly and Mitochondrial Cardiomyopathy
by Huigsloot, Merei and Nijtmans, Leo G and Szklarczyk, Radek and Baars, Marieke J.H and van den Brand, Mariël A.M and HendriksFranssen, Marthe G.M and van den Heuvel, Lambertus P and Smeitink, Jan A.M and Huynen, Martijn A and Rodenburg, Richard J.T
American journal of human genetics, ISSN 0002-9297, 04/2011, Volume 88, Issue 4, pp. 488 - 493
Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Fundamental and applied biological sciences. Psychology | Cardiology. Vascular system | Heart | General aspects. Genetic counseling | Medical genetics | Biological and medical sciences | Myocarditis. Cardiomyopathies | Molecular and cellular biology | Genetics of eukaryotes. Biological and molecular evolution | Medical sciences | Fibroblasts - enzymology | Humans | Open Reading Frames | Protein Multimerization | Molecular Sequence Data | Electrophoresis, Gel, Two-Dimensional | Male | Mutation, Missense | Electron Transport Complex IV - chemistry | Cardiomyopathies - enzymology | Genetic Complementation Test | Electron Transport Complex IV - metabolism | Cardiomyopathies - genetics | DNA Mutational Analysis | Base Sequence | Fatal Outcome | Female | Infant, Newborn | Mitochondrial Diseases - genetics | Amino Acid Sequence | Mitochondrial Diseases - enzymology | Sequence Homology, Amino Acid | Homozygote | Pedigree | Consanguinity | Amino Acid Substitution | Gene mutations | Cardiomyopathy | Cytochrome oxidase | Causes of | Genetic aspects | Research | Brewer's yeast | Health aspects | Heart diseases | Studies | Proteins | Pathogens | Membranes | Genes | Cardiovascular disease | Mutation | Index Medicus | Report
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5. Full Text Biochemical diagnosis of mitochondrial disorders
by Rodenburg, R.J.T
Journal of inherited metabolic disease, ISSN 0141-8955, 2011, Volume 34, Issue 2, pp. 283 - 292
Biochemistry, general | Human Genetics | Pediatrics | Internal Medicine | Medicine & Public Health | Metabolic Diseases | Endocrinology & Metabolism | Genetics & Heredity | Life Sciences & Biomedicine | Medicine, Research & Experimental | Science & Technology | Research & Experimental Medicine | Mitochondrial Diseases - genetics | Biopsy - methods | Mitochondria, Muscle - pathology | Humans | Cells, Cultured | Oxidative Phosphorylation | Genotype | Genetic Variation | Animals | Time Factors | Models, Biological | Oxygen - chemistry | Fibroblasts - cytology | Adenosine Triphosphate - chemistry | Mitochondrial Diseases - diagnosis | Enzymes | Analysis | Mitochondrial DNA | Index Medicus | Mitochondrial Medicine
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6. Full Text Mutations in COA6 cause cytochrome c oxidase deficiency and neonatal hypertrophic cardiomyopathy
by Baertling, F and Brand, M.A.M. van den and Hertecant, J.L and Al-Shamsi, A and Heuvel, L.P.W.J. van den and Distelmaier, F and Mayatepek, E and Smeitink, J and Nijtmans, L.G.J and Rodenburg, R.J.T
Human mutation, ISSN 1059-7794, 2015, Volume 36, Issue 1, pp. 34 - 38
OXPHOS | cytochrome c oxidase | cardiomyopathy | C1ORF31 | COA6 | Cytochrome c oxidase | Cardiomyopathy | Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Cardiomyopathy, Hypertrophic - genetics | Humans | HEK293 Cells | Copper - administration & dosage | Female | Mitochondria - metabolism | Electron Transport Complex IV - genetics | Cardiomyopathy, Hypertrophic - drug therapy | Cytochrome-c Oxidase Deficiency - genetics | Infant, Newborn | Cardiomyopathy, Hypertrophic - pathology | Electron Transport Complex IV - metabolism | Cytochrome c | Infants (Newborn) | Cardiomyopathy, Hypertrophic | Analysis | Cytochrome oxidase | Genetic aspects | Mitochondrial DNA | Cytochrome | Fibroblasts | Mutation | Index Medicus
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7. Full Text Mitochondrial complex I-linked disease
by Rodenburg, R.J.T
Biochimica et biophysica acta. Bioenergetics, ISSN 0005-2728, 2016, Volume 1857, Issue 7, pp. 938 - 945
Complex I | Enzyme measurement | mtDNA | Whole exome sequencing | Mitochondrial disease | Biochemistry & Molecular Biology | Biophysics | Life Sciences & Biomedicine | Science & Technology | Biomarkers - metabolism | Developmental Disabilities | Cataract | Genetic Predisposition to Disease - genetics | Models, Chemical | Mitochondrial Myopathies | Humans | Electron Transport Complex I - metabolism | Molecular Dynamics Simulation | Electron Transport Complex I - chemistry | Mitochondria | Electron Transport Complex I - genetics | Protein Conformation | Enzyme Activation | Mutation | Hearing Loss | Enzymes | Genes | Genomics | Genetic screening
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8. Full Text Statin-Induced Myopathy Is Associated with Mitochondrial Complex III Inhibition
by Schirris, Tom J.J and Renkema, G. Herma and Ritschel, Tina and Voermans, Nicol C and Bilos, Albert and van Engelen, Baziel G.M and Brandt, Ulrich and Koopman, Werner J.H and Beyrath, Julien D and Rodenburg, Richard J and Willems, Peter H.G.M and Smeitink, Jan A.M and Russel, Frans G.M
Cell metabolism, ISSN 1550-4131, 09/2015, Volume 22, Issue 3, pp. 399 - 407
Endocrinology & Metabolism | Life Sciences & Biomedicine | Science & Technology | Cell Biology | Electron Transport Complex III - metabolism | Humans | Hydroxymethylglutaryl-CoA Reductase Inhibitors - chemistry | Muscles - pathology | Myoblasts - drug effects | Myoblasts - metabolism | Adenosine Triphosphate - metabolism | Cell Respiration - drug effects | Muscular Diseases - chemically induced | Muscles - metabolism | Lactones - chemistry | Cell Line | Muscular Diseases - metabolism | Cells, Cultured | Models, Molecular | Mitochondria - metabolism | Muscular Diseases - pathology | Lactones - adverse effects | Mitochondria - drug effects | Mitochondria - pathology | Myoblasts - pathology | Animals | Hydroxymethylglutaryl-CoA Reductase Inhibitors - adverse effects | Electron Transport Complex III - antagonists & inhibitors | Muscles - drug effects | Mice | Muscles - cytology | Enzymes | Cytochrome b | Statins | Lactones | Cardiovascular agents | Index Medicus
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