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PLoS ONE, ISSN 1932-6203, 04/2013, Volume 8, Issue 4, pp. e61540 - e61540
The establishment of human induced pluripotent stem cells (hiPSCs) has enabled the production of in vitro, patient-specific cell models of human disease. In... 
PLURIPOTENT STEM-CELLS | SKELETAL-MUSCLE | PROGENITORS | GENE | MULTIDISCIPLINARY SCIENCES | MOUSE | MYOBLASTS | DUCHENNE MUSCULAR-DYSTROPHY | DYSFERLIN | FIBROBLASTS | LINES | Electric Stimulation | MyoD Protein - genetics | Humans | Gene Expression Profiling | Muscle Fibers, Skeletal - drug effects | Muscle Fibers, Skeletal - metabolism | Cell Differentiation - genetics | Transfection | Muscle Proteins - metabolism | Distal Myopathies - metabolism | Membrane Proteins - metabolism | Induced Pluripotent Stem Cells - cytology | Induced Pluripotent Stem Cells - metabolism | Biomarkers - metabolism | Gene Expression | Induced Pluripotent Stem Cells - drug effects | Muscular Atrophy - metabolism | Membrane Proteins - genetics | Distal Myopathies - pathology | Muscular Atrophy - pathology | Cells, Cultured | Dysferlin | Muscular Atrophy - genetics | MyoD Protein - metabolism | Mice, SCID | Muscle Proteins - genetics | Distal Myopathies - genetics | Animals | Cell Differentiation - drug effects | Models, Biological | Doxycycline - pharmacology | Muscle Fibers, Skeletal - cytology | Mice | Genetic Vectors | Gene expression | Analysis | Genes | Stem cells | Cell culture | Health sciences | Disease | Muscular diseases | Myocytes | Cell fusion | Muscular dystrophy | Defects | Embryology | Immunology | Miyoshi myopathy | Rodents | Fibroblasts | Genetics | Modelling | Repair | Myotubes | Health promotion | Muscles | Twitching | Electrical stimuli | Medicine | Pathology | Musculoskeletal system | Reproducibility | Mutation | Differentiation | Pluripotency | Myopathy | Index Medicus
Journal Article
PLoS ONE, ISSN 1932-6203, 11/2015, Volume 10, Issue 11, pp. e0142144 - e0142144
Journal Article
Proceedings of the National Academy of Sciences of the United States of America, ISSN 0027-8424, 07/2018, Volume 115, Issue 28, pp. E6566 - E6575
Myosin is a molecular motor indispensable for body movement and heart contractility. Apart from pure cardiomyopathy, mutations in MYH7 encoding... 
Laing distal myopathy | Abba/Thin | Myosin myopathy | Drosophila | Myosin | STABILITY | MULTIDISCIPLINARY SCIENCES | myosin myopathy | HEAVY-CHAIN GENE | CARDIOMYOPATHY | myosin | MUSCLE | DISTAL MYOPATHY | INTEGRITY | STORAGE MYOPATHY | MUTATIONS | EXPRESSION | MYH7 | Tripartite Motif Proteins - biosynthesis | Distal Myopathies - pathology | Humans | Myosin Heavy Chains - genetics | Tripartite Motif Proteins - genetics | Myocardium - pathology | Genetic Loci | Drosophila Proteins - metabolism | Myosin Heavy Chains - metabolism | Homozygote | Distal Myopathies - genetics | Animals | Myocardium - metabolism | Distal Myopathies - metabolism | Drosophila Proteins - genetics | Mutation | Drosophila melanogaster | Disease Models, Animal | Genetic aspects | Muscle diseases | Gene expression | Health aspects | Heart | Larvae | Body wall | Cardiomyopathy | Flight | Proteins | Genotype & phenotype | Filaments | Heart diseases | Phenotypes | Cardiac muscle | Molecular motors | Muscles | Cardiomyocytes | Muscle contraction | Coronary artery disease | Skeletal muscle | Insects | Life span | Morphology | Sarcomeres | Myopathy | Structure-function relationships | Index Medicus | Biological Sciences | PNAS Plus | Thin | Abba | Neurologi | Medical and Health Sciences | Medicin och hälsovetenskap | Klinisk medicin | Biomedical Genetics | Genetik | Clinical Medicine | Neurology | Biomedicinsk genetik | Naturvetenskap | Biologiska vetenskaper | Genetics | Natural Sciences
Journal Article
Human Mutation, ISSN 1059-7794, 04/2013, Volume 34, Issue 4, pp. 572 - 577
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 06/2011, Volume 88, Issue 6, pp. 729 - 740
Journal Article
Journal Article
Journal Article
Journal of Biological Chemistry, ISSN 0021-9258, 03/2012, Volume 287, Issue 13, pp. 10344 - 10354
Dysferlin is a transmembrane protein implicated in surface membrane repair of muscle cells. Mutations in dysferlin cause the progressive muscular dystrophies... 
MULTIPLE-MYELOMA | IN-VITRO | GENE | MEMBRANE | BIOCHEMISTRY & MOLECULAR BIOLOGY | GIRDLE MUSCULAR-DYSTROPHY | DEGRADATION | MUTATIONS | MYOPATHY | EXPRESSION | DEFICIENCY | Humans | Muscular Dystrophies, Limb-Girdle - drug therapy | Muscle Fibers, Skeletal - metabolism | Mutation, Missense | RNA, Messenger - metabolism | Proteolysis - drug effects | Acetylcysteine - analogs & derivatives | Muscular Dystrophies, Limb-Girdle - genetics | Muscle Proteins - metabolism | Distal Myopathies - metabolism | Antineoplastic Agents - pharmacology | Membrane Proteins - metabolism | Muscular Dystrophies, Limb-Girdle - pathology | Distal Myopathies - drug therapy | Bortezomib | Muscular Atrophy - metabolism | Membrane Proteins - genetics | Distal Myopathies - pathology | Muscular Atrophy - pathology | RNA, Messenger - genetics | Cells, Cultured | Dysferlin | Muscular Atrophy - genetics | Muscular Atrophy - drug therapy | Muscle Proteins - genetics | Proteasome Endopeptidase Complex - genetics | Distal Myopathies - genetics | Muscular Dystrophies, Limb-Girdle - metabolism | Cysteine Proteinase Inhibitors - pharmacology | Acetylcysteine - pharmacology | Alleles | Muscle Fibers, Skeletal - pathology | Proteasome Endopeptidase Complex - metabolism | Proteasome Inhibitors | Pyrazines - pharmacology | Amino Acid Substitution | Boronic Acids - pharmacology | Index Medicus | Sarcolemma | Mis-sense Mutation | Ubiquitylation | Proteasomal Inhibition | Muscular Dystrophy | Cell Biology | Proteasome
Journal Article