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1. Full Text Mitochondrial DNA Depletion Syndromes: Review and Updates of Genetic Basis, Manifestations, and Therapeutic Options
by El-Hattab, Ayman W and Scaglia, Fernando
Neurotherapeutics, ISSN 1933-7213, 4/2013, Volume 10, Issue 2, pp. 186 - 198
Neurology | Neurosciences | Biomedicine | Neurobiology | Mitochondrial encephalomyopathy | Mitochondrial neurogastrointestinal (MNGIE) disease | Mitochondrial myopathy | Neurosurgery | Hepatocerebral syndrome | Alpers-Huttenlocher syndrome | Pharmacology & Pharmacy | Clinical Neurology | Neurosciences & Neurology | Life Sciences & Biomedicine | Science & Technology | Mitochondrial Diseases - genetics | Liver Transplantation | DNA, Mitochondrial - metabolism | Humans | Mitochondrial Encephalomyopathies - genetics | DNA, Mitochondrial - physiology | Mutation - genetics | Nervous System Diseases - genetics | Nucleotides - metabolism | Mitochondrial Myopathies - pathology | Mitochondrial Myopathies - therapy | Nervous System Diseases - therapy | Mitochondrial Encephalomyopathies - pathology | Mutation - physiology | Mitochondrial Myopathies - genetics | DNA, Mitochondrial - genetics | Mitochondrial Encephalomyopathies - therapy | DNA Replication - physiology | DNA Replication - genetics | Nervous System Diseases - physiopathology | Mitochondrial Diseases - therapy | Mitochondrial Diseases - physiopathology | Nutritional Support | Thymidine - metabolism | Genetic aspects | Mitochondrial DNA | Health aspects | Genes | Medical genetics | Index Medicus | Review
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2. Full Text Mitochondrial genetic medicine
by Wallace, Douglas C
Nature genetics, ISSN 1061-4036, 12/2018, Volume 50, Issue 12, pp. 1642 - 1649
Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Mitochondrial Diseases - genetics | Humans | Mitochondrial Diseases - metabolism | Genome, Human - physiology | Animals | DNA, Mitochondrial - genetics | Mitochondria - genetics | Germ-Line Mutation | Mitochondrial Diseases - therapy | Mutation | Energy Metabolism - genetics | Mitochondria - physiology | Genetic Therapy - methods | Cytochrome | Traumatic brain injury | Genes | Parkinsons disease | Transplantation | Genomes | Mitochondrial DNA | Kinases | Mitochondria | Energy | Bioenergetics | Etiology | Aging | Genetics | Deoxyribonucleic acid--DNA | Polypeptides | Health risks | Metabolism | Age related diseases | Diseases | Sepsis | Gene therapy | Alzheimers disease | Cancer | Index Medicus
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3. Full Text Mutations in FBXL4 Cause Mitochondrial Encephalopathy and a Disorder of Mitochondrial DNA Maintenance
by Bonnen, Penelope E and Yarham, John W and Besse, Arnaud and Wu, Ping and Faqeih, Eissa A and Al-Asmari, Ali Mohammad and Saleh, Mohammad A.M and Eyaid, Wafaa and Hadeel, Alrukban and He, Langping and Smith, Frances and Yau, Shu and Simcox, Eve M and Miwa, Satomi and Donti, Taraka and Abu-Amero, Khaled K and Wong, Lee-Jun and Craigen, William J and Graham, Brett H and Scott, Kenneth L and McFarland, Robert and Taylor, Robert W
American journal of human genetics, ISSN 0002-9297, 09/2013, Volume 93, Issue 3, pp. 471 - 481
Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Mitochondrial Encephalomyopathies - complications | Genes, Recessive - genetics | Acidosis, Lactic - genetics | Electron Transport - genetics | Humans | Child, Preschool | Molecular Sequence Data | Infant | Male | DNA, Mitochondrial - genetics | Base Sequence | Acidosis, Lactic - complications | Female | Child | Infant, Newborn | Fibroblasts - metabolism | Gene Dosage - genetics | Genetic Predisposition to Disease | F-Box Proteins - chemistry | Mitochondrial Encephalomyopathies - genetics | Oxidative Phosphorylation | Fibroblasts - pathology | Mutation - genetics | Ubiquitin-Protein Ligases - chemistry | Acidosis, Lactic - pathology | Protein Transport | Mitochondrial Encephalomyopathies - pathology | Pedigree | Muscle, Skeletal - pathology | Ubiquitin-Protein Ligases - genetics | F-Box Proteins - genetics | Chromosome Segregation - genetics | Gene mutations | Encephalopathy | Physiological aspects | Genetic aspects | Research | Nucleotide sequencing | DNA sequencing | Proteins | Membranes | Mitochondrial DNA | Genetic disorders | Mutation | Index Medicus
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4. Full Text Mitochondrial diseases
by Schapira, Anthony HV, Prof
The Lancet (British edition), ISSN 0140-6736, 2012, Volume 379, Issue 9828, pp. 1825 - 1834
Internal Medicine | Medicine, General & Internal | Life Sciences & Biomedicine | General & Internal Medicine | Science & Technology | Errors of metabolism | Biological and medical sciences | Metabolic diseases | General aspects | Medical sciences | Miscellaneous hereditary metabolic disorders | Mitochondrial Diseases - genetics | Humans | Mitochondrial Diseases - metabolism | Mitochondrial Proteins - physiology | Apoptosis - genetics | Mitochondria - metabolism | Mitochondrial Proteins - genetics | Disease Progression | Mitochondria - genetics | Mitochondrial Proteins - metabolism | Apoptosis - physiology | Mutation | Mitochondria - physiology | Mitochondrial Diseases - physiopathology | Care and treatment | Gene mutations | Physiological aspects | Mitochondrial DNA | Mitochondrial diseases | Genetic aspects | Research | Risk factors | Proteins | Kinases | Rodents | Parkinsons disease | Index Medicus | Abridged Index Medicus
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5. Full Text Pathogenic VCP Mutations Induce Mitochondrial Uncoupling and Reduced ATP Levels
by Bartolome, Fernando and Wu, Hsiu-Chuan and Burchell, Victoria S and Preza, Elisavet and Wray, Selina and Mahoney, Colin J and Fox, Nick C and Calvo, Andrea and Canosa, Antonio and Moglia, Cristina and Mandrioli, Jessica and Chiò, Adriano and Orrell, Richard W and Houlden, Henry and Hardy, John and Abramov, Andrey Y and Plun-Favreau, Helene
Neuron (Cambridge, Mass.), ISSN 0896-6273, 04/2013, Volume 78, Issue 1, pp. 57 - 64
Neurosciences | Neurosciences & Neurology | Life Sciences & Biomedicine | Science & Technology | RNA, Small Interfering - genetics | Humans | Middle Aged | Male | Frontotemporal Dementia - metabolism | Neurons - ultrastructure | Muscular Dystrophies, Limb-Girdle - genetics | Adenosine Triphosphate - metabolism | Membrane Potential, Mitochondrial - genetics | Muscular Dystrophies, Limb-Girdle - pathology | NAD - metabolism | Fibroblasts - metabolism | Animals, Newborn | Frontotemporal Dementia - genetics | Magnesium - metabolism | Mitochondria - pathology | Fibroblasts - pathology | Mutation - genetics | Myositis, Inclusion Body - genetics | Osteitis Deformans - pathology | Muscular Dystrophies, Limb-Girdle - metabolism | Analysis of Variance | Luminescent Proteins - genetics | Adenosine Triphosphatases - genetics | Mice | Lipid Peroxidation - genetics | RNA, Small Interfering - metabolism | Valosin Containing Protein | Osteitis Deformans - metabolism | Family Health | Cerebral Cortex - cytology | Case-Control Studies | Osteitis Deformans - genetics | Transfection | Mitochondria - genetics | Cell Cycle Proteins - genetics | Myositis, Inclusion Body - pathology | Adult | Female | Neuroblastoma - pathology | Frontotemporal Dementia - pathology | Adenosine Triphosphatases - deficiency | Mice, Inbred C57BL | Cells, Cultured | Cell Cycle Proteins - deficiency | Mitochondria - metabolism | Animals | Oxygen Consumption - genetics | Myositis, Inclusion Body - metabolism | Aged | Nervous system diseases | Genes | Amyotrophic lateral sclerosis | Genetic aspects | Adenosine triphosphatase | Dementia | Proteins | Medical research | Phosphorylation | Biomedical research | Disease | Rodents | Respiration | Experiments | Patients | Index Medicus | Report
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6. Full Text Mutations in FBXL4, Encoding a Mitochondrial Protein, Cause Early-Onset Mitochondrial Encephalomyopathy
by Gai, Xiaowu and Ghezzi, Daniele and Johnson, Mark A and Biagosch, Caroline A and Shamseldin, Hanan E and Haack, Tobias B and Reyes, Aurelio and Tsukikawa, Mai and Sheldon, Claire A and Srinivasan, Satish and Gorza, Matteo and Kremer, Laura S and Wieland, Thomas and Strom, Tim M and Polyak, Erzsebet and Place, Emily and Consugar, Mark and Ostrovsky, Julian and Vidoni, Sara and Robinson, Alan J and Wong, Lee-Jun and Sondheimer, Neal and Salih, Mustafa A and Al-Jishi, Emtethal and Raab, Christopher P and Bean, Charles and Furlan, Francesca and Parini, Rossella and Lamperti, Costanza and Mayr, Johannes A and Konstantopoulou, Vassiliki and Huemer, Martina and Pierce, Eric A and Meitinger, Thomas and Freisinger, Peter and Sperl, Wolfgang and Prokisch, Holger and Alkuraya, Fowzan S and Falk, Marni J and Zeviani, Massimo
American journal of human genetics, ISSN 0002-9297, 09/2013, Volume 93, Issue 3, pp. 482 - 495
Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Genes, Recessive - genetics | Humans | DNA, Complementary - genetics | Child, Preschool | Infant | Male | Mitochondrial Proteins - genetics | HEK293 Cells | Female | Child | Infant, Newborn | Fibroblasts - metabolism | Genetic Predisposition to Disease | F-Box Proteins - chemistry | Mitochondrial Encephalomyopathies - genetics | Oxidative Phosphorylation | Mutant Proteins - metabolism | Mitochondria - metabolism | Fibroblasts - pathology | Mutation - genetics | Ubiquitin-Protein Ligases - chemistry | Subcellular Fractions - metabolism | Chromosomes, Human, Pair 6 - genetics | Syndrome | Protein Transport | Pedigree | Age of Onset | Mitochondrial Encephalomyopathies - epidemiology | Muscle, Skeletal - pathology | Ubiquitin-Protein Ligases - genetics | F-Box Proteins - genetics | Physiological aspects | Genetic code | Mitochondrial diseases | Research | Gene mutations | Proteins | Homeostasis | Cell culture | Phosphorylation | Mitochondrial DNA | Mutation | Index Medicus
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