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Cornea, ISSN 0277-3740, 02/2015, Volume 34, Issue 2, pp. 117 - 159
PURPOSE:To update the 2008 International Classification of Corneal Dystrophies (IC3D) incorporating new clinical, histopathologic, and genetic information.... 
Fleck corneal dystrophy | Cornea | Epithelial and subepithelial dystrophies | Descemetmembrane | Posterior amorphous corneal dystrophy | Confocal microscopy | Cornea pathology | Thiel-Behnke corneal dystrophy | Lattice corneal dystrophy | Macular corneal dystrophy | Stromal dystrophies | Hereditary disease | Epithelial basement membranedystrophy | Pre-Descemet corneal dystrophy | Histopathology | Keratoconus | Congenital corneal endothelial dystrophy and X-linked endothelialdystrophy | Bowman membrane | Subepithelialmucinous corneal dystrophy | Endothelial dystrophies | Genetics | Schnyder corneal dystrophy | Gelatinousdrop-like corneal dystrophy | Fuchsendothelial corneal dystrophy | Epithelial-stromal TGFBI dystrophies | Lisch epithelial corneal dystrophy | Stroma | Histology | Meesmann dystrophy | Epithelium | Endothelium | Genetic disease | Epithelial recurrent erosion dystrophies | Posteror polymorphous corneal dystrophy | Centralcloudy dystrophy of François | Granular corneal dystrophy type 1 | Granular corneal dystrophy type 2 | TGFBI | Reis-Bücklers corneal dystrophy | Congenital stromal corneal dystrophy | Cornea dystrophy | cornea | endothelial dystrophies | histology | epithelial basement membrane dystrophy | genetic disease | epithelial and subepithelial dystrophies | central cloudy dystrophy of Francois | macular corneal dystrophy | subepithelial mucinous corneal dystrophy | cornea pathology | stroma | FRANCOIS | congenital corneal endothelial dystrophy and X-linked endothelial dystrophy | posteror polymorphous corneal dystrophy | DISEASE | epithelium | Fuchs endothelial corneal dystrophy | lattice corneal dystrophy | Reis-Bucklers corneal dystrophy | pre-Descemet corneal dystrophy | histopathology | INDIVIDUAL PHENOTYPIC VARIANCES | FAMILY | epithelial recurrent erosion dystrophies | granular corneal dystrophy type 1 | granular corneal dystrophy type 2 | genetics | cornea dystrophy | UBIAD1 GENE | MUTATIONS | Descemet membrane | endothelium | hereditary disease | epithelial-stromal TGFBI dystrophies | keratoconus | posterior amorphous corneal dystrophy | congenital stromal corneal dystrophy | stromal dystrophies | fleck corneal dystrophy | confocal microscopy | gelatinous drop-like corneal dystrophy | EDEMA | OPHTHALMOLOGY | LINKAGE | Corneal Dystrophies, Hereditary - genetics | Terminology as Topic | International Classification of Diseases | Corneal Dystrophies, Hereditary - classification | Corneal Dystrophies, Hereditary - pathology | Humans | Index Medicus
Journal Article
CORNEA, ISSN 0277-3740, 12/2008, Volume 27, Issue 10, pp. S1 - S42
Background: The recent availability of genetic analyses has demonstrated the shortcomings of the current phenotypic method of corneal dystrophy classification.... 
Grayson-Wilbrandt corneal dystrophy | Meesmann corneal dystrophy | TGFBI BIGH3 GENE | pre-Descemet corneal dystrophy | GROENOUW TYPE-I | corneal histopathology | GELSOLIN-RELATED AMYLOIDOSIS | Thiel-Behnke corneal dystrophy | posterior polymorphous corneal dystrophy | epithelial basement membrane dystrophy | POSTERIOR POLYMORPHOUS DYSTROPHY | granular corneal dystrophy 2 | COMPOUND HETEROZYGOUS MUTATIONS | granular corneal dystrophy 1 | genetic corneal disease | Schnyder corneal dystrophy | inherited corneal disease | WHORLED MICROCYSTIC DYSTROPHY | congenital hereditary endothelial dystrophy 1 | congenital hereditary endothelial dystrophy 2 | posterior amorphous corneal dystrophy | central cloudy dystrophy of Francois | macular corneal dystrophy | Schnyder crystalline corneal dystrophy | congenital stromal corneal dystrophy | gene | subepithelial mucinous corneal dystrophy | VIVO CONFOCAL MICROSCOPY | CENTRAL CLOUDY DYSTROPHY | Lisch epithelial corneal dystrophy | corneal dystrophy | eponym | X-linked endothelial corneal dystrophy | mutation | key reference | CARBOHYDRATE SULFOTRANSFERASE GENE | fleck corneal dystrophy | HEREDITARY ENDOTHELIAL DYSTROPHY | epithelial recurrent erosion dystrophy | gelatinous drop-like corneal dystrophy | OPHTHALMOLOGY | Avellino corneal dystrophy | lattice gelsolin type dystrophy | Fuchs endothelial corneal dystrophy | lattice corneal dystrophy | Reis-Bucklers corneal dystrophy
Journal Article
2015, Fourth edition., Oxford monographs on medical genetics, ISBN 9780199681488, Volume no. 67., ix, 308 pages
Book
Human Molecular Genetics, ISSN 0964-6906, 2/2009, Volume 18, Issue 3, pp. 482 - 496
Duchenne muscular dystrophy (DMD) is the most common, lethal, muscle-wasting disease of childhood. Previous investigations have shown that muscle macrophages... 
MEDIATED GENE-THERAPY | SKELETAL-MUSCLE | IL-12 PRODUCTION | NITRIC-OXIDE SYNTHASE | BIOCHEMISTRY & MOLECULAR BIOLOGY | MURINE MACROPHAGES | SOLEUS MUSCLE | GENETICS & HEREDITY | CD4(+) LYMPHOCYTES | HUMAN MONOCYTES | DUCHENNE DYSTROPHY | MDX MICE | Competition | Animal models | Deactivation | Therapeutic applications | Arginase | Inflammation | Macrophages | Metabolism | Nitric-oxide synthase | Muscular dystrophy | Necrosis | Interleukin 6 | Interleukin 4 | Arginine | Duchenne's muscular dystrophy | Interleukin 10 | IP-10 protein | Children | Dystrophy | Age | Monocyte chemoattractant protein 1 | Injuries | satellite cells | Severity of Illness Index | Cell Proliferation | Cytokines | Humans | Mice, Inbred C57BL | Cells, Cultured | Mice, Transgenic | Nitric Oxide | Nitric Oxide Synthase Type II | Macrophage Activation | Phenotype | Animals | Muscular Dystrophy, Animal | Mice | Muscle, Skeletal | Muscular Dystrophy, Duchenne | Muscular Dystrophy, Animal - genetics | Muscle, Skeletal - metabolism | Muscle, Skeletal - immunology | Muscular Dystrophy, Duchenne - immunology | Muscular Dystrophy, Animal - metabolism | Macrophages - immunology | Cytokines - immunology | Muscular Dystrophy, Animal - immunology | Macrophages - metabolism | Muscular Dystrophy, Duchenne - metabolism | Muscle, Skeletal - pathology | Muscular Dystrophy, Duchenne - genetics | Nitric Oxide - metabolism | Arginine - metabolism | Nitric Oxide Synthase Type II - metabolism | Index Medicus
Journal Article
Nature Communications, ISSN 2041-1723, 12/2018, Volume 9, Issue 1, pp. 1 - 16
Journal Article
Nature Communications, ISSN 2041-1723, 07/2017, Volume 8, Issue 1, pp. 16105 - 16105
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
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 | Animal models | snRNA U7 | Gene transfer | Exon skipping | Antisense | Mutation | Dystrophin | mice | Skeletal muscle | Muscular dystrophy | Expression vectors | Genes | RNA Splicing | Transfection | Rodents | Mice, Inbred mdx | Muscular Dystrophy, Animal | RNA, Small Nuclear | Oligonucleotides, Antisense | Gene Therapy | Introns | Ribonucleic acid--RNA | Dependovirus | Animals | Muscle Contraction | Muscle Fibers | Research Support, Non-U.S. Gov't | Mice | Muscle, Skeletal | Muscular Dystrophy, Duchenne | Genetic Vectors | RNA, Messenger | U7 small nuclear RNA | Mutations | Article | Ribonucleic acids | Mathematical analysis | Copyrights | Documents | Vectors (mathematics) | Low frequencies | Plugs | Dependovirus - genetics | Genetic Therapy | Muscular Dystrophy, Animal - genetics | Muscular Dystrophy, Animal - physiopathology | Muscle, Skeletal - metabolism | RNA, Messenger - metabolism | Muscular Dystrophy, Animal - pathology | Muscular Dystrophy, Duchenne - physiopathology | RNA, Small Nuclear - genetics | Muscular Dystrophy, Animal - therapy | Muscular Dystrophy, Duchenne - therapy | Dystrophin - metabolism | Oligonucleotides, Antisense - pharmacology | RNA, Messenger - genetics | Muscular Dystrophy, Duchenne - pathology | Muscle, Skeletal - physiology | Muscle Fibers, Skeletal - immunology | Dystrophin - genetics | Muscle Fibers, Skeletal - pathology | Muscle, Skeletal - pathology | Muscular Dystrophy, Duchenne - genetics | RNA, Small Nuclear - metabolism | Usage | Care and treatment | Genetic aspects | Gene therapy | Exon (Molecular genetics) | Index Medicus
Journal Article
Journal Article
Neurology, ISSN 0028-3878, 10/2014, Volume 83, Issue 16, pp. 1453 - 1463
Journal Article
Proceedings of the National Academy of Sciences of the United States of America, ISSN 0027-8424, 04/2017, Volume 114, Issue 16, pp. 4213 - 4218
Duchenne muscular dystrophy (DMD) is a lethal genetic disorder caused by an absence of the dystrophin protein in bodywide muscles, including the heart.... 
Cardiac Purkinje fibers | Dystrophic dog model | Peptide-conjugated morpholinos | Duchenne muscular dystrophy | Exon skipping | MUSCLE PATHOLOGY | MULTIDISCIPLINARY SCIENCES | DMD GENE | CARDIOMYOPATHY | BODYWIDE | dystrophic dog model | peptide-conjugated morpholinos | MDX52 MICE | OLIGONUCLEOTIDES | RESCUE | exon skipping | LABORATORY-ANIMALS | cardiac Purkinje fibers | EXPRESSION | EXONS 45-55 | Heart | Conduction | Intravenous administration | Peptides | Toxicity | Cardiomyopathy | Effects | Muscular dystrophy | Fibers | Oligomers | Nerve conduction | Arginine | Duchenne's muscular dystrophy | Degeneration | Polymers | Heart diseases | Dystrophin | EKG | Cardiac muscle | Abnormalities | Muscles | Skeletal muscle | Purkinje fibers | Dogs | Myocardium | Dystrophy | Genetic Therapy | Muscular Dystrophy, Animal - genetics | Exons | Male | Muscle, Skeletal - metabolism | Muscular Dystrophy, Animal - complications | Muscular Dystrophy, Duchenne - complications | Cardiomyopathies - etiology | Cardiomyopathies - therapy | Cell-Penetrating Peptides - pharmacology | Animals | Morpholinos - pharmacology | Female | Muscular Dystrophy, Animal - therapy | Muscle, Skeletal - pathology | Muscular Dystrophy, Duchenne - genetics | Muscular Dystrophy, Duchenne - therapy | Dystrophin - metabolism | Disease Models, Animal | Physiological aspects | Health aspects | Index Medicus
Journal Article