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Journal Article
Journal Article
EMBO Molecular Medicine, ISSN 1757-4676, 06/2014, Volume 6, Issue 6, pp. 721 - 731
Journal Article
Human Molecular Genetics, ISSN 0964-6906, 07/2010, Volume 19, Issue 20, pp. 3948 - 3958
Journal Article
Cell Metabolism, ISSN 1550-4131, 04/2016, Volume 23, Issue 4, pp. 635 - 648
Journal Article
Brain, ISSN 0006-8950, 8/2007, Volume 130, Issue 8, pp. 2045 - 2054
Multiple acyl-CoA dehydrogenation deficiency (MADD) is a disorder of fatty acid, amino acid and choline metabolism that can result from defects in two... 
Mutations | Riboflavin-responsive multiple acyl-CoA dehydrogenation deficiency | Mitochondrial myopathy | Electron transfer flavoprotein ubiquinone oxidoreductase | riboflavin-responsive multiple acyl-CoA dehydrogenation deficiency | ACYLCOENZYME-A DEHYDROGENASE | BETA-OXIDATION | OXIDATIVE-PHOSPHORYLATION | UBIQUINONE OXIDOREDUCTASE | ACIDEMIA TYPE-II | INTACT CULTURED FIBROBLASTS | ACIDURIA TYPE-II | NEUROSCIENCES | CLINICAL NEUROLOGY | LIPID-STORAGE MYOPATHY | SKELETAL-MUSCLE | mitochondrial myopathy | electron transfer flavoprotein ubiquinone | mutations | ELECTRON-TRANSFER FLAVOPROTEIN | oxidoreductase | Mitochondrial Myopathies - metabolism | Humans | Mitochondria, Muscle - metabolism | Child, Preschool | Iron-Sulfur Proteins - genetics | Male | Muscle, Skeletal - metabolism | Adult | Female | Carnitine - analogs & derivatives | Electron Transport - physiology | Brain Diseases, Metabolic - enzymology | Child | Fatty Acids - metabolism | Electron-Transferring Flavoproteins - genetics | Brain Diseases, Metabolic - genetics | Oxidation-Reduction | Riboflavin - therapeutic use | Carnitine - blood | Metabolism, Inborn Errors - metabolism | Oxidoreductases Acting on CH-NH Group Donors - genetics | Metabolism, Inborn Errors - genetics | Mitochondrial Myopathies - pathology | Mitochondrial Myopathies - drug therapy | Mitochondrial Myopathies - genetics | Acyl-CoA Dehydrogenase - deficiency | Adolescent | Muscle, Skeletal - pathology | Mutation | Metabolism, Inborn Errors - pathology | Electron Transport | Fatty Acids | pathology | Oxidoreductases Acting on CH-NH Group Donors | Riboflavin | Metabolic | MEDICIN OCH HÄLSOVETENSKAP | Acyl-CoA Dehydrogenase | Skeletal | Inborn Errors | Mitochondria | genetics | Brain Diseases | Muscle | MEDICAL AND HEALTH SCIENCES | drug therapy | Mitochondrial Myopathies | Electron-Transferring Flavoproteins | Preschool | physiology | blood | Iron-Sulfur Proteins | enzymology | Carnitine | deficiency | analogs & derivatives | metabolism | therapeutic use
Journal Article
Journal Article
Brain, ISSN 0006-8950, 2/2008, Volume 131, Issue 2, pp. 338 - 351
Mutations in OPA1, a dynamin-related GTPase involved in mitochondrial fusion, cristae organization and control of apoptosis, have been linked to non-syndromic... 
Chronic progressive external ophthalmoplegia | Dominant optic atrophy | Mitochondrial encephalomyopathy | Mitochondria | mtDNA multiple deletions | PROTEIN | mitochondria | NEUROSCIENCES | chronic progressive external ophthalmoplegia | R445H MUTATION | CLINICAL NEUROLOGY | mitochondrial encephalomyopathy | PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA | NEUROGASTROINTESTINAL ENCEPHALOMYOPATHY | HEARING-LOSS | GENE | DISEASE | dominant optic atrophy | DEAFNESS | FISSION | DELETIONS | Ophthalmoplegia, Chronic Progressive External - pathology | Humans | Middle Aged | Male | Tomography, X-Ray Computed | Mutation, Missense | DNA Mutational Analysis - methods | Ophthalmoplegia, Chronic Progressive External - genetics | DNA, Mitochondrial - genetics | Base Sequence | Muscle, Skeletal - chemistry | Adult | Female | Optic Atrophy, Autosomal Dominant - pathology | Child | Muscle, Skeletal - ultrastructure | Models, Molecular | Fibroblasts - pathology | Mitochondrial Myopathies - pathology | Syndrome | Magnetic Resonance Imaging | Point Mutation | Mitochondrial Myopathies - genetics | GTP Phosphohydrolases - genetics | Pedigree | Optic Atrophy, Autosomal Dominant - genetics | Aged | GTP Phosphohydrolases | Neurons and Cognition | DNA, Mitochondrial | Life Sciences | DNA Mutational Analysis | Fibroblasts | Optic Atrophy, Autosomal Dominant | Mitochondrial Myopathies | Ophthalmoplegia, Chronic Progressive External | Muscle, Skeletal
Journal Article
Journal of Clinical Neuromuscular Disease, ISSN 1522-0443, 03/2009, Volume 10, Issue 3, pp. 97 - 121
Journal Article