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Proceedings of the National Academy of Sciences of the United States of America, ISSN 0027-8424, 8/2009, Volume 106, Issue 33, pp. 13915 - 13920
Journal Article
Nature Structural & Molecular Biology, ISSN 1545-9993, 07/2011, Volume 18, Issue 7, pp. 840 - 845
Journal Article
Nature Medicine, ISSN 1078-8956, 2011, Volume 17, Issue 6, pp. 720 - 725
Myotonic dystrophy is the most common muscular dystrophy in adults and the first recognized example of an RNA-mediated disease. Congenital myotonic dystrophy... 
MEDICINE, RESEARCH & EXPERIMENTAL | CTG REPEAT | CENTRONUCLEAR MYOPATHY | PROTEIN-KINASE | BIOCHEMISTRY & MOLECULAR BIOLOGY | MYOTUBULAR MYOPATHY | CELL BIOLOGY | SKELETAL-MUSCLE | MESSENGER-RNA | GENE | CHLORIDE CHANNEL | AMPHIPHYSIN-2 BIN1 | MUTATIONS | Cell Line | RNA-Binding Proteins - physiology | Humans | Alternative Splicing - physiology | Exons - genetics | Muscle Weakness - genetics | Protein Isoforms - physiology | Tumor Suppressor Proteins - physiology | Adaptor Proteins, Signal Transducing - physiology | Myotonic Dystrophy - physiopathology | Animals | Tumor Suppressor Proteins - genetics | Adaptor Proteins, Signal Transducing - genetics | Myotonic Dystrophy - genetics | Mice | Nuclear Proteins - physiology | Muscle Weakness - physiopathology | Nuclear Proteins - genetics | Muscle Fibers, Skeletal - physiology | RNA-Binding Proteins - metabolism | Protein Isoforms - genetics | Muscle weakness | Myotonic dystrophy | RNA | Physiological aspects | Genetic aspects | Research | Risk factors | Musculoskeletal diseases | Musculoskeletal system | Biosynthesis | Protein synthesis | Muscular dystrophy | Index Medicus | Alternative Splicing | Exons | Myotonic Dystrophy | RNA-Binding Proteins | Nuclear Proteins | Life Sciences | Adaptor Proteins, Signal Transducing | Muscle Fibers, Skeletal | Protein Isoforms | Muscle Weakness | Tumor Suppressor Proteins | Cancer | Naturvetenskap | Natural Sciences
Journal Article
Molecular Therapy, ISSN 1525-0016, 01/2017, Volume 25, Issue 1, pp. 24 - 43
Journal Article
International Journal of Molecular Sciences, ISSN 1661-6596, 04/2019, Volume 20, Issue 8, p. 1938
Circular RNAs (circRNAs) constitute a recently re-discovered class of non-coding RNAs functioning as sponges for miRNAs and proteins, affecting RNA splicing... 
Alternative splicing | Circular RNA | Muscular dystrophies | TRIPLET REPEAT | ABUNDANT | alternative splicing | BIOCHEMISTRY & MOLECULAR BIOLOGY | RECEPTOR | BINDING PROTEIN | FAILURE | CHEMISTRY, MULTIDISCIPLINARY | BIOMARKERS | DISRUPTION | circular RNA | MBNL PROTEINS | PLASMA MICRORNAS | GENE-EXPRESSION | muscular dystrophies | Life Sciences
Journal Article
Journal of Clinical Investigation, ISSN 0021-9738, 02/2017, Volume 127, Issue 2, pp. 549 - 563
Myotonic dystrophy type I (DM1) is a disabling multisystemic disease that predominantly affects skeletal muscle. It is caused by expanded CTG repeats in the... 
MEDICINE, RESEARCH & EXPERIMENTAL | SKELETAL-MUSCLE | MESSENGER-RNA | RYANODINE RECEPTOR | PROTEIN-KINASE | EXPANDED CUG REPEATS | MUSCULAR-DYSTROPHIES | BINDING PROTEIN | AMPK ACTIVATION | MOUSE MODELS | CHLORIDE CHANNELOPATHY | AMP-Activated Protein Kinases - metabolism | TOR Serine-Threonine Kinases - metabolism | Humans | Middle Aged | Male | Multiprotein Complexes - genetics | Aminoimidazole Carboxamide - pharmacology | Mechanistic Target of Rapamycin Complex 1 | Multiprotein Complexes - antagonists & inhibitors | Ribonucleotides - pharmacology | TOR Serine-Threonine Kinases - antagonists & inhibitors | Multiprotein Complexes - metabolism | TOR Serine-Threonine Kinases - genetics | Mice, Mutant Strains | Myotonic Dystrophy - genetics | Adult | Female | Myotonic Dystrophy - enzymology | Disease Models, Animal | Myotonin-Protein Kinase - metabolism | Signal Transduction - genetics | Sirolimus - pharmacokinetics | Sirolimus - pharmacology | Myotonin-Protein Kinase - genetics | Myotonic Dystrophy - physiopathology | Animals | Aminoimidazole Carboxamide - analogs & derivatives | Signal Transduction - drug effects | Muscle Relaxation - genetics | Myotonic Dystrophy - drug therapy | Mice | Muscle Relaxation - drug effects | AMP-Activated Protein Kinases - genetics | Muscle Fibers, Skeletal - enzymology | Care and treatment | Myotonic dystrophy | Development and progression | Genetic aspects | Cellular signal transduction | Gene expression | Health aspects | Protein kinases | Phosphorylation | Disease | Genes | Colleges & universities | Kinases | Metabolism | Proteins | Pathology | Musculoskeletal system | Microscopy | Biopsy | Rodents | Fibroblasts | Index Medicus | Abridged Index Medicus
Journal Article
Nature Communications, ISSN 2041-1723, 04/2016, Volume 7, Issue 1, pp. 11067 - 11067
Journal Article