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2009, 2nd ed., Thefacts series, ISBN 9780199571970, xiii, 106
Book
Nature Communications, ISSN 2041-1723, 12/2018, Volume 9, Issue 1, pp. 3906 - 16
Journal Article
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
Investigative Ophthalmology and Visual Science, ISSN 0146-0404, 06/2018, Volume 59, Issue 7, pp. 3053 - 3057
PURPOSE. RNA toxicity from CTG trinucleotide repeat (TNR) expansion within noncoding DNA of the transcription factor 4 (TCF4) and DM1 protein kinase (DMPK)... 
Fuchs’ endothelial corneal dystrophy | Cornea | Corneal dystrophies | Corneal genetics | Myotonic dystrophy | POPULATION | cornea | CHINESE | Fuchs' endothelial corneal dystrophy | TRINUCLEOTIDE REPEAT EXPANSION | TCF4 GENE | myotonic dystrophy | POLYMORPHISMS | CTG18.1 | OPHTHALMOLOGY | ASSOCIATION | corneal dystrophies | THICKNESS | corneal genetics | RNA FOCI | Index Medicus
Journal Article
Investigative Ophthalmology and Visual Science, ISSN 0146-0404, 11/2017, Volume 58, Issue 13, pp. 5838 - 5830
Journal Article
11/2018, ISBN 9789811305078, 214
This book provides an essential overview combining both clinical and fundamental research advances in myotonic dystrophy. 
Myotonia atrophica-Treatment
eBook
Nature, ISSN 0028-0836, 08/2012, Volume 488, Issue 7409, pp. 111 - 115
Antisense oligonucleotides (ASOs) hold promise for gene-specific knockdown in diseases that involve RNA or protein gain-of-function effects. In the hereditary... 
CTG REPEAT | 3' END | PROTEIN | MESSENGER-RNA | MULTIDISCIPLINARY SCIENCES | GENE-EXPRESSION | TOXIC RNA | MODIFIED ANTISENSE OLIGONUCLEOTIDE | PHOSPHOROTHIOATE OLIGONUCLEOTIDES | MOUSE MODELS | TRINUCLEOTIDE REPEAT | Humans | Muscle, Skeletal - metabolism | RNA, Messenger - metabolism | RNA, Untranslated - genetics | Gene Knockdown Techniques | RNA - genetics | Myotonic Dystrophy - pathology | Base Sequence | Muscle, Skeletal - drug effects | Oligonucleotides, Antisense - therapeutic use | RNA, Messenger - antagonists & inhibitors | Mice, Inbred mdx | Myotonic Dystrophy - genetics | Disease Models, Animal | RNA - metabolism | Oligonucleotides, Antisense - pharmacology | Myotonin-Protein Kinase | RNA - antagonists & inhibitors | Mice, Inbred C57BL | RNA, Messenger - genetics | Gene Silencing | Protein-Serine-Threonine Kinases - genetics | Mice, Transgenic | Myotonic Dystrophy - therapy | Transcriptome - drug effects | Transcriptome - genetics | Myotonic Dystrophy - physiopathology | Animals | Oligonucleotides, Antisense - genetics | Cell Nucleus - genetics | RNA, Long Noncoding | Alleles | Trinucleotide Repeat Expansion - genetics | Mice | Mice, Inbred BALB C | Cell Nucleus - drug effects | Ribonuclease H - metabolism | Myotonic dystrophy | RNA | Oligonucleotides | Physiological aspects | Development and progression | Genetic aspects | Health aspects | Index Medicus
Journal Article
Journal of Cell Biology, ISSN 0021-9525, 05/2013, Volume 201, Issue 4, pp. 499 - 510
The muscular dystrophies are a group of heterogeneous genetic diseases characterized by progressive degeneration and weakness of skeletal muscle. Since the... 
SKELETAL-MUSCLE | ALPHA-DYSTROGLYCAN | ABNORMAL GLYCOSYLATION | ALPHA-7-BETA-1 INTEGRIN | 3 UNTRANSLATED REGION | WALKER-WARBURG-SYNDROME | NITRIC-OXIDE | DILATED CARDIOMYOPATHY | MYOTONIC-DYSTROPHY | MEMBRANE REPAIR | CELL BIOLOGY | Dystrophin | Utrophin | Analysis | Muscular dystrophy | Musculoskeletal system | Genotype & phenotype | Neuromuscular diseases | Genes | Reviews
Journal Article
PLoS ONE, ISSN 1932-6203, 02/2015, Volume 10, Issue 2, pp. e0117665 - e0117665
Facioscapulohumeral muscular dystrophy (FSHD) is an autosomal-dominant disease with no effective treatment. The genetic cause of FSHD is complex and the... 
FACIOSCAPULOHUMERAL MUSCULAR-DYSTROPHY | SKELETAL-MUSCLE | MYOGENIC DIFFERENTIATION | HUMAN-CHROMOSOME 4Q35 | MULTIDISCIPLINARY SCIENCES | REGION GENE-1 FRG1 | SATELLITE CELL | CANDIDATE GENE | MYOBLAST FUSION | MYOTONIC-DYSTROPHY | ACTIN-BUNDLING PROTEIN | Muscular Dystrophy, Facioscapulohumeral - physiopathology | Humans | Male | Intracellular Signaling Peptides and Proteins - metabolism | Muscular Dystrophy, Facioscapulohumeral - genetics | LIM Domain Proteins - metabolism | Myoblasts - metabolism | Muscle Proteins - metabolism | Myoblasts - cytology | Female | Nuclear Proteins - genetics | Intracellular Signaling Peptides and Proteins - genetics | Cell Line | Gene Expression | Mice, Transgenic | Myoblasts - pathology | Muscle Proteins - genetics | Animals | Muscle, Skeletal - physiopathology | Fibrosis | Muscle Development - genetics | Muscular Dystrophy, Facioscapulohumeral - pathology | LIM Domain Proteins - genetics | Mice | Muscle, Skeletal - pathology | Muscles | Genetic aspects | Genetic engineering | Genes | Muscular dystrophy | Deregulation | Transcription factors | Kyphosis | Laboratories | Pathogenesis | Biochemistry | Defects | Proteins | Cell activation | Transgenic animals | Rodents | Cell cycle | Physiology | Phenotypes | Medical treatment | Transgenic mice | Gene expression | Myogenesis | Skeletal muscle | Myoblasts | Studies | Pathology | Musculoskeletal system | Cell number | Cell lines | Stem cells | Epigenetics | Dystrophy | Molecular biology | Differentiation | Hypertrophy | Index Medicus
Journal Article
Journal Article