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duchenne muscular dystrophy (4) 4
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medicine, research & experimental (4) 4
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girdle muscular-dystrophy (3) 3
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Science, ISSN 0036-8075, 12/2004, Volume 306, Issue 5702, pp. 1796 - 1799
Most mutations in the dystrophin gene create a frameshift or a stop in the mRNA and are associated with severe Duchenne muscular dystrophy. Exon skipping that... 
Proteins | Legs | Messenger RNA | Reverse transcriptase polymerase chain reaction | Exons | Duchenne muscular dystrophy | Muscles | Small nuclear RNA | Reports | Muscle fibers | Genetic mutation | SKELETAL-MUSCLE | HEMOPHILIA-B | MULTIDISCIPLINARY SCIENCES | MDX MOUSE MUSCLE | MUTATION | DUCHENNE MUSCULAR-DYSTROPHY | GENE-TRANSFER | EXPRESSION | PRE-MESSENGER-RNA | DELIVERY | VECTOR | Dependovirus - genetics | Genetic Therapy | Muscular Dystrophy, Animal - genetics | Muscular Dystrophy, Animal - physiopathology | Muscle, Skeletal - metabolism | RNA, Messenger - metabolism | Muscular Dystrophy, Animal - pathology | RNA Splicing | Transfection | Muscular Dystrophy, Duchenne - physiopathology | RNA, Small Nuclear - genetics | Mice, Inbred mdx | Muscular Dystrophy, Animal - therapy | Muscular Dystrophy, Duchenne - therapy | Dystrophin - metabolism | Oligonucleotides, Antisense - pharmacology | Introns | RNA, Messenger - genetics | Muscular Dystrophy, Duchenne - pathology | Muscle, Skeletal - physiology | Muscle Fibers, Skeletal - immunology | Animals | Muscle Contraction | Dystrophin - genetics | Muscle Fibers, Skeletal - pathology | Mice | Muscle, Skeletal - pathology | Muscular Dystrophy, Duchenne - genetics | Mutation | RNA, Small Nuclear - metabolism | Genetic Vectors | Usage | Care and treatment | Genetic aspects | Gene therapy | Exon (Molecular genetics) | Ribonucleic acid--RNA | Genes | Rodents | Muscular dystrophy | Index Medicus
Journal Article
Human Molecular Genetics, ISSN 0964-6906, 7/2008, Volume 17, Issue 14, pp. 2132 - 2143
Myotubular myopathy (XLMTM, OMIM 310400) is a severe congenital muscular disease due to mutations in the myotubularin gene (MTM1) and characterized by the... 
MARIE-TOOTH-DISEASE | 3-PHOSPHATE | CENTRONUCLEAR MYOPATHY | PHOSPHATASE | BIOCHEMISTRY & MOLECULAR BIOLOGY | GENETICS & HEREDITY | ADENOASSOCIATED VIRUS VECTORS | DYNAMIN-2 | DUCHENNE MUSCULAR-DYSTROPHY | GENE-THERAPY | AMPHIPHYSIN-2 BIN1 | MUTATIONS | Dependovirus - genetics | Genetic Therapy | Myopathies, Structural, Congenital - physiopathology | Homeostasis | Protein Tyrosine Phosphatases, Non-Receptor - administration & dosage | Male | Muscle, Skeletal - metabolism | Myopathies, Structural, Congenital - genetics | Cell Membrane - genetics | Cell Membrane - chemistry | Muscle, Skeletal - chemistry | Myopathies, Structural, Congenital - therapy | Protein Tyrosine Phosphatases, Non-Receptor - genetics | Cell Membrane - pathology | Female | Cell Membrane - metabolism | Cell Line | Dependovirus - metabolism | Injections, Intramuscular | Genetic Vectors - genetics | Phenotype | Animals | Muscle, Skeletal - physiopathology | Protein Tyrosine Phosphatases, Non-Receptor - metabolism | Mice | Myopathies, Structural, Congenital - metabolism | Muscle, Skeletal - pathology | Protein Tyrosine Phosphatases, Non-Receptor - analysis | Index Medicus | Cell Membrane | Gene Therapy | Protein Tyrosine Phosphatases, Non-Receptor | Dependovirus | Life Sciences | Ethics | Myopathies, Structural, Congenital | Muscle, Skeletal | Genetic Vectors
Journal Article
Journal Article
Journal Article
Journal Article
Molecular Therapy, ISSN 1525-0016, 02/2006, Volume 13, Issue 2, pp. 250 - 259
Journal Article
Cell, ISSN 0092-8674, 04/1995, Volume 81, Issue 1, pp. 27 - 40
Journal Article
Circulation Research: Journal of the American Heart Association, ISSN 0009-7330, 06/2000, Volume 86, Issue 11, pp. 1114 - 1121
Journal Article
Annals of Clinical and Translational Neurology, ISSN 2328-9503, 04/2016, Volume 3, Issue 4, pp. 248 - 265
ObjectiveLimb-girdle muscular dystophy 2A (LGMD2A, OMIM) is a slowly progressive myopathy caused by the deficiency in calpain 3, a calcium-dependent cysteine... 
IN-VITRO | GENE | REUNION ISLAND | SARCOMERE | MUSCLE | PHENOTYPE | GIRDLE MUSCULAR-DYSTROPHY | MUTATIONS | NEUROSCIENCES | CALPAIN 3 | CLINICAL NEUROLOGY | Mutation
Journal Article
FASEB Journal, ISSN 0892-6638, 06/2013, Volume 27, Issue 6, pp. 2256 - 2269
As a strategy to treat Duchenne muscular dystrophy, we used arginine butyrate, which combines two pharmacological activities: nitric oxide pathway activation,... 
Mdx | Histone deacetylase | NO | DMD | Pharmacology | Treatment | mdx | treatment | LOCALIZATION | REGENERATION | BIOCHEMISTRY & MOLECULAR BIOLOGY | DEFICIENT SKELETAL-MUSCLE | SATELLITE CELLS | histone deacetylase | MDX MICE | CELL BIOLOGY | GLOBIN GENE-EXPRESSION | BETA-HEMOGLOBINOPATHIES | UTROPHIN TRANSGENE | pharmacology | BIOLOGY | NITRIC-OXIDE | DYSTROPHINOPATHIES | Muscular Dystrophy, Animal - drug therapy | Muscular Dystrophy, Animal - physiopathology | Humans | Utrophin - genetics | Male | Muscle Fibers, Skeletal - drug effects | Muscle Fibers, Skeletal - metabolism | Muscular Dystrophy, Animal - pathology | Arginine - analogs & derivatives | Arginine - administration & dosage | Muscular Dystrophy, Duchenne - physiopathology | Butyrates - therapeutic use | Mice, Inbred mdx | Butyrates - administration & dosage | Animals, Newborn | Muscular Dystrophy, Duchenne - drug therapy | Mice, Inbred C57BL | Cells, Cultured | Muscular Dystrophy, Duchenne - pathology | Drug Synergism | Up-Regulation - drug effects | Animals | Histone Deacetylase Inhibitors - therapeutic use | Mice | Arginine - therapeutic use | Index Medicus | Up-Regulation | Neurons and Cognition | Life Sciences | Muscle Fibers, Skeletal | Arginine | Butyrates | Utrophin | Muscular Dystrophy, Animal | Histone Deacetylase Inhibitors | Muscular Dystrophy, Duchenne
Journal Article