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2011, Methods in molecular biology, ISBN 9781617379826, Volume 709., xiii, 382
Book
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
2006, Neurological disease and therapy, ISBN 0824723252, Volume 79., xxii, 461
Duchenne Muscular Dystrophy (DMD) is one of the most prevalent genetic disorders of childhood and currently stands as an incurable condition. This... 
Treatment | Muscular Dystrophy, Duchenne | Duchenne muscular dystrophy | therapy | Medical Genetics | Neurology | Neuroscience | Muscular Dystrophy, Duchenne - therapy
Book
Nature Communications, ISSN 2041-1723, 12/2018, Volume 9, Issue 1, pp. 3906 - 16
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
2003, 3RD ED., ISBN 9780198515319
Book
Nature Communications, ISSN 2041-1723, 07/2017, Volume 8, Issue 1, pp. 16105 - 16105
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 | 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
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 | 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 | Dogs | Morpholinos - pharmacology | Female | Muscular Dystrophy, Animal - therapy | Muscle, Skeletal - pathology | Muscular Dystrophy, Duchenne - genetics | Muscular Dystrophy, Duchenne - therapy | Dystrophin - metabolism | Disease Models, Animal | Heart | Physiological aspects | Health aspects | 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 | Myocardium | Dystrophy | Index Medicus | Biological Sciences
Journal Article
KLINISCHE MONATSBLATTER FUR AUGENHEILKUNDE, ISSN 0023-2165, 01/2011, Volume 228, pp. S1 - S39
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 | central cloudy dystrophy of Francxois | corneal histopathology | GELSOLIN-RELATED AMYLOIDOSIS | Thiel-Behnke 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 | HELIX TERMINATION MOTIF | 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 | Fuchs endothelial corneal dystrophy posterior | 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 | polymorphous corneal dystrophy | OPHTHALMOLOGY | Avellino corneal dystrophy | lattice gelsolin type dystrophy | lattice corneal dystrophy | Reis-Bucklers corneal dystrophy
Journal Article
Circulation Research, ISSN 0009-7330, 09/2017, Volume 121, Issue 8, pp. 923 - 929
RATIONALE:Duchenne muscular dystrophy is a severe inherited form of muscular dystrophy caused by mutations in the reading frame of the dystrophin gene... 
Cardiomyopathies | Mice | Dystrophin | Gene editing | Muscular dystrophy | FIBROSIS | CELLS | CARDIAC & CARDIOVASCULAR SYSTEMS | CARDIOMYOPATHY | dystrophin | gene editing | mice | DELIVERY | NUCLEASES | muscular dystrophy | THERAPY | MOUSE MODEL | MUSCLE FUNCTION | PERIPHERAL VASCULAR DISEASE | DUCHENNE MUSCULAR-DYSTROPHY | CAS9 | HEMATOLOGY | cardiomyopathies | Dependovirus - genetics | RNA, Guide - genetics | Exons | RNA, Guide - metabolism | Utrophin - genetics | Recovery of Function | Cardiomyopathies - genetics | Cardiomyopathies - physiopathology | Muscular Dystrophy, Duchenne - physiopathology | Clustered Regularly Interspaced Short Palindromic Repeats | Mice, Inbred mdx | Papillary Muscles - metabolism | Muscular Dystrophy, Duchenne - therapy | Dystrophin - metabolism | Disease Models, Animal | Myocardial Contraction | Genetic Predisposition to Disease | CRISPR-Associated Proteins - genetics | Gene Expression Regulation | Cardiomyopathies - therapy | Papillary Muscles - physiopathology | Phenotype | Animals | Dystrophin - genetics | CRISPR-Associated Proteins - metabolism | Cardiomyopathies - metabolism | CRISPR-Cas Systems | Fibrosis | Gene Editing - methods | High-Throughput Nucleotide Sequencing | Muscular Dystrophy, Duchenne - metabolism | Muscular Dystrophy, Duchenne - genetics | Mutation | Genetic Vectors | Papillary Muscles - pathology | Genetic Therapy - methods | Neonates | CRISPR | Cardiac muscle | Cardiomyopathy | Contractility | Genomes | Ribonucleic acid--RNA | Muscle contraction | Proteins | Rodents | Duchenne's muscular dystrophy | Protein expression | Dystrophy | Immunofluorescence | Heart diseases | Index Medicus | genome editing | AAV | gene therapy | Duchenne muscular dystrophy cardiomyopathy | cardiomyopathy
Journal Article
PLoS ONE, ISSN 1932-6203, 11/2012, Volume 7, Issue 11, pp. e48478 - e48478
The GRMD (Golden retriever muscular dystrophy) dog has been widely used in pre-clinical trials targeting DMD (Duchenne muscular dystrophy), using in many cases... 
SKELETAL-MUSCLE | STEM-CELLS | EFFICACY | GAIT | ATROPHY |