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Nature, ISSN 0028-0836, 06/2007, Volume 447, Issue 7146, pp. 860 - 864
Journal Article
Nature Cell Biology, ISSN 1465-7392, 09/2011, Volume 13, Issue 9, pp. 1116 - 1124
The AAA-ATPase VCP (also known as p97) cooperates with distinct cofactors to process ubiquitylated proteins in different cellular pathways(1-3). VCP missense... 
UBIQUITIN-SELECTIVE CHAPERONE | VALOSIN-CONTAINING PROTEIN | COMPLEX | FRONTOTEMPORAL DEMENTIA | CDC48/P97 | AAA-ATPASE | ENDOPLASMIC-RETICULUM | MYOPATHY | PAGET-DISEASE | P97 | CELL BIOLOGY | Humans | Valosin Containing Protein | Endosomal Sorting Complexes Required for Transport - genetics | Endosomes - metabolism | Lysosomes - metabolism | RNA Interference | Mass Spectrometry | Endosomes - ultrastructure | HEK293 Cells | Cell Cycle Proteins - genetics | Sarcolemma - metabolism | Ubiquitinated Proteins - metabolism | Muscular Diseases - metabolism | Cell Cycle Proteins - metabolism | Cells, Cultured | Endosomal Sorting Complexes Required for Transport - metabolism | Adenosine Triphosphatases - metabolism | Caveolin 1 - genetics | Rats | Muscular Diseases - pathology | Microscopy, Electron | Blotting, Western | Caveolin 1 - metabolism | Lysosomes - ultrastructure | Carrier Proteins - genetics | Animals | Carrier Proteins - metabolism | Cell Line, Tumor | Protein Binding | Luminescent Proteins - genetics | Ubiquitinated Proteins - genetics | Adenosine Triphosphatases - genetics | Muscular Diseases - genetics | Mutation | Microscopy, Fluorescence | Luminescent Proteins - metabolism | Usage | Degeneration (Pathology) | Gene mutations | Genetic aspects | Diagnosis | Research | Mass spectrometry | Health aspects | Risk factors | Index Medicus
Journal Article
STEM CELLS, ISSN 1066-5099, 07/2013, Volume 31, Issue 7, pp. 1287 - 1297
In congenital mitochondrial DNA (mtDNA) disorders, a mixture of normal and mutated mtDNA (termed heteroplasmy) exists at varying levels in different tissues,... 
Pearson's marrow pancreas syndrome | Mitochondrial DNA | Induced pluripotent stem cells | Heteroplasmy | Hematopoiesis | Human genetics | MUSCLE | FIBROBLASTS | CELL & TISSUE ENGINEERING | CELL BIOLOGY | MTDNA | ONCOLOGY | GENETICS | BIOTECHNOLOGY & APPLIED MICROBIOLOGY | MUTATION | GENERATION | PATIENT | HEMATOLOGY | Mitochondrial Diseases - pathology | Sequence Deletion | Fibroblasts - physiology | Humans | Mitochondrial Diseases - metabolism | Child, Preschool | Anemia, Sideroblastic - metabolism | Cell Differentiation - genetics | DNA, Mitochondrial - genetics | Lipid Metabolism, Inborn Errors - pathology | Hematopoietic Stem Cells - physiology | Female | Anemia, Sideroblastic - pathology | Induced Pluripotent Stem Cells - cytology | Fibroblasts - metabolism | Induced Pluripotent Stem Cells - metabolism | Mitochondrial Diseases - genetics | Cell Line | DNA, Mitochondrial - metabolism | Induced Pluripotent Stem Cells - physiology | Lipid Metabolism, Inborn Errors - metabolism | Acyl-CoA Dehydrogenase, Long-Chain - metabolism | Muscular Diseases - metabolism | Lipid Metabolism, Inborn Errors - diagnosis | Hematopoietic Stem Cells - metabolism | Muscular Diseases - pathology | Anemia, Sideroblastic - genetics | Muscular Diseases - diagnosis | Hematopoietic Stem Cells - cytology | Fibroblasts - cytology | Mitochondrial Diseases - diagnosis | Acyl-CoA Dehydrogenase, Long-Chain - deficiency | Genetic research | Stem cell research | Genetic disorders | Analysis | Stem cells | Index Medicus
Journal Article
Science Translational Medicine, ISSN 1946-6234, 02/2012, Volume 4, Issue 119, pp. 119 - ra13
Massage therapy is commonly used during physical rehabilitation of skeletal muscle to ameliorate pain and promote recovery from injury. Although there is... 
MEDICINE, RESEARCH & EXPERIMENTAL | MECHANICAL STIMULI | LOW-BACK-PAIN | MESSENGER-RNA | STRETCH | PATHWAY | ENDURANCE EXERCISE | PGC-1-ALPHA | DUCHENNE MUSCULAR-DYSTROPHY | TNF-ALPHA | HUMAN SKELETAL-MUSCLE | CELL BIOLOGY | Tumor Necrosis Factor-alpha - metabolism | Phosphorylation | Oligonucleotide Array Sequence Analysis | Humans | Mitochondria, Muscle - metabolism | Male | NF-kappa B - metabolism | Quadriceps Muscle - physiopathology | Recovery of Function | Electron Transport Complex IV - metabolism | Young Adult | Time Factors | Muscular Diseases - physiopathology | Peroxisome Proliferator-Activated Receptor Gamma Coactivator 1-alpha | Inflammation Mediators - metabolism | Quadriceps Muscle - pathology | Focal Adhesion Kinase 1 - metabolism | Interleukin-6 - metabolism | Mechanotransduction, Cellular - genetics | Real-Time Polymerase Chain Reaction | Physical Exertion | Mitochondria, Muscle - pathology | Muscular Diseases - metabolism | Heat-Shock Proteins - metabolism | Gene Expression Regulation | Gene Expression Profiling - methods | Muscular Diseases - pathology | NADH Dehydrogenase - metabolism | Reverse Transcriptase Polymerase Chain Reaction | Transcription Factors - metabolism | Muscle Contraction | Mitogen-Activated Protein Kinase 3 - metabolism | Biopsy | Massage | Muscular Diseases - genetics | Quadriceps Muscle - metabolism | Muscular Diseases - therapy | Ontario | Mitogen-Activated Protein Kinase 1 - metabolism | Index Medicus
Journal Article
Journal of Nutrition, ISSN 0022-3166, 05/2013, Volume 143, Issue 5, pp. 613 - 619
Journal Article
Journal Article
PLoS ONE, ISSN 1932-6203, 2016, Volume 11, Issue 2, pp. e0147818 - e0147818
Rhabdomyolysis is common in very long-chain acyl-CoA dehydrogenase deficiency (VLCADD) and other metabolic myopathies, but its pathogenic basis is poorly... 
SKELETAL-MUSCLE | MAGNETIC-RESONANCE-SPECTROSCOPY | ACID BETA-OXIDATION | MAXIMAL FAT OXIDATION | FATIGUE | MULTIDISCIPLINARY SCIENCES | IN-VIVO | KINASE | RESISTANCE | DUCHENNE MUSCULAR-DYSTROPHY | MITOCHONDRIAL MYOPATHIES | Mitochondrial Diseases - pathology | Humans | Muscle Fibers, Fast-Twitch - metabolism | Mitochondrial Diseases - metabolism | Rhabdomyolysis - complications | Male | Muscle Fibers, Slow-Twitch - metabolism | Adenosine Triphosphate - biosynthesis | Case-Control Studies | Mitochondrial Diseases - complications | Exercise | Lipid Metabolism, Inborn Errors - pathology | Muscular Diseases - physiopathology | Rhabdomyolysis - pathology | Adult | Female | Lipid Metabolism, Inborn Errors - metabolism | Acyl-CoA Dehydrogenase, Long-Chain - metabolism | Muscular Diseases - metabolism | Oxidative Phosphorylation | Rhabdomyolysis - physiopathology | Mitochondria - metabolism | Muscular Diseases - pathology | Models, Statistical | Acetylcarnitine - blood | Rhabdomyolysis - metabolism | Lipid Metabolism, Inborn Errors - physiopathology | Phosphates - metabolism | Muscle Fibers, Slow-Twitch - pathology | Adolescent | Muscle Fibers, Fast-Twitch - pathology | Muscular Diseases - complications | Phosphocreatine - metabolism | Lipid Metabolism, Inborn Errors - complications | Mitochondrial Diseases - physiopathology | Acyl-CoA Dehydrogenase, Long-Chain - deficiency | Physiological aspects | Cycling | Research | Rhabdomyolysis | Risk factors | Phosphates | Pediatrics | Neurosciences | Nuclear magnetic resonance--NMR | Laboratories | Oxidative metabolism | Homeostasis | Chains | Dehydrogenase | Muscular dystrophy | Acyl-CoA dehydrogenase | Defects | Mitochondria | Child development | Energy | Metabolites | Rodents | Workloads | Mathematical models | Bioinformatics | Enzymes | Departments | Phosphorus | Phosphocreatine | Earth science | Metabolism | Medical screening | Patients | Fatty acids | Carnitine | Children & youth | Energy balance | Musculoskeletal system | Chemistry | Hypotheses | Hospitals | Bicycles | Quadriceps muscle | Respiration | ATP | Metabolic disorders | Index Medicus | Nuclear magnetic resonance | NMR
Journal Article
Circulation, ISSN 0009-7322, 08/2017, Volume 136, Issue 13, pp. e200 - e231
For many neuromuscular diseases (NMDs), cardiac disease represents a major cause of morbidity and mortality. The management of cardiac disease in NMDs is made... 
Neuromuscular disease | Pediatrics | Cardiomyopathy | Muscular dystrophy | AHA Scientific Statements | CARDIAC & CARDIOVASCULAR SYSTEMS | CARDIOVASCULAR MAGNETIC-RESONANCE | MECHANICAL CIRCULATORY SUPPORT | neuromuscular disease | CONVERTING ENZYME-INHIBITORS | LUNG TRANSPLANTATION GUIDELINES | LEFT-VENTRICULAR NONCOMPACTION | muscular dystrophy | pediatrics | CHEYNE-STOKES RESPIRATION | LAMIN A/C GENE | PERIPHERAL VASCULAR DISEASE | DUCHENNE MUSCULAR-DYSTROPHY | MYOCARDIAL DELAYED ENHANCEMENT | cardiomyopathy | CARDIOSELECTIVE BETA-BLOCKERS | Myotonic Dystrophy - metabolism | Barth Syndrome - metabolism | Friedreich Ataxia - pathology | Myotonic Dystrophy - diagnosis | United States | Humans | Myopathies, Structural, Congenital - genetics | Neuromuscular Diseases - pathology | Barth Syndrome - pathology | Myotonic Dystrophy - pathology | Muscular Dystrophy, Emery-Dreifuss - diagnosis | Cardiomyopathies - diagnosis | Neuromuscular Diseases - diagnosis | Muscular Dystrophies, Limb-Girdle - pathology | Friedreich Ataxia - metabolism | Muscular Dystrophies, Limb-Girdle - diagnosis | Muscular Diseases - metabolism | Risk Factors | Friedreich Ataxia - diagnosis | Muscular Dystrophy, Emery-Dreifuss - pathology | Cardiomyopathies - pathology | Muscular Dystrophy, Duchenne - pathology | Muscular Diseases - pathology | Barth Syndrome - diagnosis | American Heart Association | Muscular Diseases - diagnosis | Muscular Dystrophy, Emery-Dreifuss - metabolism | Muscular Dystrophies, Limb-Girdle - metabolism | Barth Syndrome - genetics | Neuromuscular Diseases - complications | Myopathies, Structural, Congenital - pathology | Cardiomyopathies - complications | Myopathies, Structural, Congenital - diagnosis | Muscular Dystrophy, Duchenne - metabolism | Myopathies, Structural, Congenital - metabolism | Muscular Dystrophy, Duchenne - diagnosis | Index Medicus | Abridged Index Medicus
Journal Article
Journal Article