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PLoS ONE, ISSN 1932-6203, 12/2018, Volume 13, Issue 12, pp. e0208415 - e0208415
Duchenne muscular dystrophy (DMD) is an X-linked muscle disorder characterized by primary muscle degeneration. Patients with DMD reveal progressive muscle... 
ACCELERATION | BIOMARKERS | 6-MINUTE WALK TEST | MRI | LIMB MUSCLES | MULTIDISCIPLINARY SCIENCES | END-POINTS | DUCHENNE MUSCULAR-DYSTROPHY | RELIABILITY | PATHOLOGY | NATURAL-HISTORY | Motor Activity - physiology | Predictive Value of Tests | Prognosis | Muscular Dystrophy, Animal - physiopathology | Magnetic Resonance Imaging - methods | Male | Muscular Dystrophy, Duchenne - pathology | Gait - physiology | Animals | Dog Diseases - physiopathology | Muscular Dystrophy, Duchenne - physiopathology | Accelerometry - veterinary | Muscle, Skeletal - diagnostic imaging | Muscle, Skeletal - physiopathology | Dogs | Magnetic Resonance Imaging - veterinary | Female | Accelerometry - methods | Dog Diseases - diagnosis | Disease Models, Animal | Muscular Dystrophy, Animal - diagnosis | Muscular Dystrophy, Duchenne - diagnosis | Accelerometers | Usage | Magnetic resonance imaging | Duchenne muscular dystrophy | Clinical trials | Models | Research | Health aspects | Neurosciences | Nuclear magnetic resonance--NMR | Gait | Laboratories | Motors | Parameter sensitivity | Muscular dystrophy | Lumbar region | Duchenne's muscular dystrophy | Degeneration | Locomotor activity | Medical research | Evaluation | Muscles | Thorax | Velocity | Neurology | Angular velocity | Dystrophy | Acceleration | Neuromuscular system | Psychiatry | Index Medicus | Nuclear magnetic resonance | NMR
Journal Article
Molecular Therapy, ISSN 1525-0016, 11/2017, Volume 25, Issue 11, pp. 2561 - 2572
Duchenne muscular dystrophy (DMD), the most common lethal genetic disorder, is caused by mutations in the ( ) gene. Exon skipping is a therapeutic approach... 
mdx52 mice | Becker muscular dystrophy | Exondys 51 | eteplirsen | exon skipping | Duchenne muscular dystrophy | clinical trial candidate screening | BMD | antisense morpholino | drisapersen | machine learning | hDMD/Dmd-null mice | MEDICINE, RESEARCH & EXPERIMENTAL | DIAGNOSIS | DESIGN | EFFICACY | DMD GENE | RESTORATION | PHASE-2 | OLIGONUCLEOTIDES | THERAPY | BIOTECHNOLOGY & APPLIED MICROBIOLOGY | GENETICS & HEREDITY | MICE | ETEPLIRSEN | Exons | Humans | Oligonucleotides, Antisense - metabolism | Male | Muscle, Skeletal - metabolism | Reading Frames | Recovery of Function | RNA Splicing | Female | Muscular Dystrophy, Duchenne - therapy | Dystrophin - metabolism | Disease Models, Animal | Gene Expression | Morpholinos - genetics | Mice, Transgenic | Muscular Dystrophy, Duchenne - pathology | Morpholinos - metabolism | Animals | Oligonucleotides, Antisense - genetics | Dystrophin - genetics | Mice | Muscular Dystrophy, Duchenne - metabolism | Muscle, Skeletal - pathology | Muscular Dystrophy, Duchenne - genetics | Mutation | Genetic Therapy - methods | Performance evaluation | Medical research | Statistical analysis | Splicing | Antisense oligonucleotides | Muscular dystrophy | Proteins | Musculoskeletal system | Protein folding | Efficiency | Exon skipping | Duchenne's muscular dystrophy | Protein expression | Muscle function | Dystrophy | Dystrophin | Evacuations & rescues | Index Medicus | hDMD | Dmd-null mice | Original
Journal Article
Human Gene Therapy, ISSN 1043-0342, 05/2017, Volume 28, Issue 5, pp. 428 - 436
Journal Article
KLINISCHE MONATSBLATTER FUR AUGENHEILKUNDE, ISSN 0023-2165, 02/2011, 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 | 2. X-linked endothelial corneal dystrophy | central cloudy dystrophy of Francxois | 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 | 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 | congenital hereditary endothelial 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
Proceedings of the National Academy of Sciences of the United States of America, ISSN 0027-8424, 09/2018, Volume 115, Issue 39, pp. E9182 - E9191
In gene therapy for Duchenne muscular dystrophy there are two potential immunological obstacles. An individual with Duchenne muscular dystrophy has a genetic... 
Gene replacement therapy | Mdx/mTRG2 mice | DNA plasmid | Duchenne muscular dystrophy | Microdystrophin | STEM-CELLS | microdystrophin | TRANSGENIC MDX MICE | MULTIDISCIPLINARY SCIENCES | MUSCULAR-DYSTROPHY | PYRUVATE-KINASE PK | mdx/mTRG2 mice | SOMATIC REVERSION SUPPRESSION | gene replacement therapy | ADENOASSOCIATED VIRAL VECTORS | MYELIN BASIC-PROTEIN | SKELETAL-MUSCLE | MOUSE MODEL | IN-VIVO | DNA - pharmacokinetics | Dependovirus - genetics | Muscle Strength - genetics | Male | Muscle Strength - immunology | DNA - genetics | Plasmids - pharmacology | Animals | Dystrophin - genetics | Genetic Vectors - pharmacology | Muscular Dystrophy, Duchenne - immunology | Mice, Inbred mdx | Plasmids - genetics | Dystrophin - immunology | Mice | Muscular Dystrophy, Duchenne - metabolism | Muscular Dystrophy, Duchenne - genetics | Muscular Dystrophy, Duchenne - therapy | Dystrophin - metabolism | Disease Models, Animal | Genetic Therapy - methods | Care and treatment | Plasmids | Genetic aspects | Gene therapy | Health aspects | Methods | Multiple sclerosis | Antibodies | Viruses | Diabetes mellitus (insulin dependent) | Immunity | Muscular dystrophy | Proteins | Immunology | Technology | Duchenne's muscular dystrophy | Plasmid DNA | Dystrophin | Deoxyribonucleic acid--DNA | Recombinant | Myelin | Diabetes mellitus | Muscles | Gene expression | Insulin | Immunogenicity | Muscle function | Mutation | Dystrophy | Index Medicus | mdx | Biological Sciences | PNAS Plus | mTRG2 mice
Journal Article
PLoS ONE, ISSN 1932-6203, 03/2018, Volume 13, Issue 3, pp. e0194540 - e0194540
Clinical trials using strategies aimed at inducing dystrophin expression in Duchenne muscular dystrophy (DMD) are underway or at advanced planning stage,... 
SARCOLEMMA | DMD | THERAPY | EXPRESSION | MULTIDISCIPLINARY SCIENCES | MOUSE | Fluorescent Antibody Technique - instrumentation | High-Throughput Screening Assays - instrumentation | Fluorescent Antibody Technique - methods | Humans | Child, Preschool | Muscular Dystrophy, Duchenne - pathology | Clinical Trials as Topic | Image Processing, Computer-Assisted - methods | Muscle Fibers, Skeletal - metabolism | Oligonucleotides, Antisense - genetics | Dystrophin - genetics | Biopsy | Adolescent | Software | Laminin - metabolism | Muscular Dystrophy, Duchenne - genetics | Spectrin - metabolism | Muscular Dystrophy, Duchenne - therapy | Child | Dystrophin - metabolism | Sarcolemma - metabolism | Genetic Therapy - methods | High-Throughput Screening Assays - methods | Muscular Dystrophy, Duchenne - diagnosis | Usage | Duchenne muscular dystrophy | Physiological aspects | Development and progression | Fluorescent antibody technique | Genetic aspects | Research | Immunofluorescence | Dystrophin | Spectrin | Neurosciences | Image processing | Neuropathology | Oligonucleotides | Childrens health | Fluorescence | Clinical trials | Becker's muscular dystrophy | Neurosurgery | Muscular dystrophy | Image acquisition | Fibers | Proteins | Laminin | Rodents | Duchenne's muscular dystrophy | Physiology | Labeling | Localization | Sarcolemma | Medical research | Neuromuscular diseases | Muscles | Research projects | Antisense oligonucleotides | Muscle contraction | Skeletal muscle | Neurology | Image analysis | Hospitals | Protein expression | Bone mineral density | Dystrophy | Mutation | Gene therapy | Methods | Index Medicus
Journal Article
by McDonald, Craig M and Campbell, Craig and Torricelli, Ricardo Erazo and Finkel, Richard S and Flanigan, Kevin M and Goemans, Nathalie and Heydemann, Peter and Kaminska, Anna and Kirschner, Janbernd and Muntoni, Francesco and Osorio, Andrés Nascimento and Schara, Ulrike and Sejersen, Thomas and Shieh, Perry B and Sweeney, H Lee and Topaloglu, Haluk and Tulinius, Már and Vilchez, Juan J and Voit, Thomas and Wong, Brenda and Elfring, Gary and Kroger, Hans and Luo, Xiaohui and McIntosh, Joseph and Ong, Tuyen and Riebling, Peter and Souza, Marcio and Spiegel, Robert J and Peltz, Stuart W and Mercuri, Eugenio and Alfano, Lindsay N and Eagle, Michelle and James, Meredith K and Lowes, Linda and Mayhew, Anna and Mazzone, Elena S and Nelson, Leslie and Rose, Kristy J and Abdel-Hamid, Hoda Z and Apkon, Susan D and Barohn, Richard J and Bertini, Enrico and Bloetzer, Clemens and de Vaud, Lausanne Canton and Butterfield, Russell J and Chabrol, Brigitte and Chae, Jong-Hee and Jongno-gu, Daehak-ro and Comi, Giacomi Pietro and Darras, Basil T and Dastgir, Jahannaz and Desguerre, Isabelle and Escobar, Raul G and Finanger, Erika and Guglieri, Michela and Hughes, Imelda and Iannaccone, Susan T and Jones, Kristi J and Karachunski, Peter and Kudr, Martin and Lotze, Timothy and Mah, Jean K and Mathews, Katherine and Nevo, Yoram and Parsons, Julie and Péréon, Yann and de Queiroz Campos Araujo, Alexandra Prufer and Renfroe, J Ben and de Resende, Maria Bernadete Dutra and Ryan, Monique and Selby, Kathryn and Tennekoon, Gihan and Vita, Giuseppe and Clinical Evaluator Training Grp and ACT DMD Study Grp and Clinical Evaluator Training Group and ACT DMD Study Group
The Lancet, ISSN 0140-6736, 09/2017, Volume 390, Issue 10101, pp. 1489 - 1498
Journal Article
Journal of Cell Biology, ISSN 0021-9525, 2014, Volume 207, Issue 1, pp. 139 - 158
Journal Article
Cornea, ISSN 0277-3740, 12/2008, Volume 27 Suppl 2, Issue Suppl 2, pp. S1 - S42
The recent availability of genetic analyses has demonstrated the shortcomings of the current phenotypic method of corneal dystrophy classification.... 
Corneal Dystrophies, Hereditary - history | Ophthalmology - trends | Phenotype | Corneal Dystrophies, Hereditary - pathology | Humans | Corneal Dystrophies, Hereditary - genetics | Terminology as Topic | History, 19th Century | International Cooperation | Corneal Dystrophies, Hereditary - classification | Grayson-Wilbrandt corneal dystrophy | Meesmann corneal dystrophy | pre-Descemet corneal dystrophy | corneal histopathology | Thiel-Behnke corneal dystrophy | posterior polymorphous corneal dystrophy | epithelial basement membrane dystrophy | granular corneal dystrophy 2 | granular corneal dystrophy 1 | genetic corneal disease | Schnyder corneal dystrophy | inherited corneal disease | congenital hereditary endothelial dystrophy 1 | congenital hereditary endothelial dystrophy 2 | posterior amorphous corneal dystrophy | central cloudy dystrophy of François | macular corneal dystrophy | Schnyder crystalline corneal dystrophy | congenital stromal corneal dystrophy | gene | subepithelial mucinous corneal dystrophy | Lisch epithelial corneal dystrophy | corneal dystrophy | eponym | X-linked endothelial corneal dystrophy | mutation | key reference | fleck corneal dystrophy | epithelial recurrent erosion dystrophy | gelatinous drop-like corneal dystrophy | Avellino corneal dystrophy | lattice gelsolin type dystrophy | Fuchs endothelial corneal dystrophy | lattice corneal dystrophy | Reis-Bücklers corneal dystrophy
Journal Article
1993, 1st ed., Molecular and cell biology of human diseases series., ISBN 9780412434402, Volume 3, xvi, 344
Book
by Chae, H and Kim, M and Kim, Y and Kim, J and Kwon, A and Choi, H and Park, J and Jang, W and Lee, Y.S and Park, S.H and Kim, M.S
Clinical Genetics, ISSN 0009-9163, 06/2016, Volume 89, Issue 6, pp. 678 - 689
Corneal dystrophy typically refers to a group of rare hereditary disorders with a heterogeneous genetic background. A comprehensive molecular genetic analysis... 
posterior polymorphous corneal dystrophy | macular corneal dystrophy | molecular genetic analysis | Thiel–Behnke corneal dystrophy | Fuchs endothelial corneal dystrophy | granular corneal dystrophy | Schnyder corneal dystrophy | lattice corneal dystrophy | Korea | Molecular genetic analysis | Granular corneal dystrophy | Posterior polymorphous corneal dystrophy | Thiel-Behnke corneal dystrophy | Lattice corneal dystrophy | Macular corneal dystrophy | IC3D CLASSIFICATION | MISSENSE MUTATIONS | COL8A2 GENE | HEREDITARY ENDOTHELIAL DYSTROPHY | GENETICS & HEREDITY | BIGH3 GENE | L527R MUTATION | TGFBI GENE-MUTATIONS | JAPANESE PATIENTS | PROTEIN FUNCTION | LATTICE | Sulfotransferases - genetics | Genetic Predisposition to Disease - genetics | Humans | Middle Aged | Asian Continental Ancestry Group - genetics | Corneal Dystrophies, Hereditary - genetics | Family Health | Male | Corneal Dystrophies, Hereditary - ethnology | Zinc Finger E-box-Binding Homeobox 1 - genetics | Transforming Growth Factor beta - genetics | Dimethylallyltranstransferase - genetics | DNA Mutational Analysis | Pedigree | Base Sequence | Adult | Female | Genetic Predisposition to Disease - ethnology | Aged | Mutation | Republic of Korea | Collagen Type VIII - genetics | Genetic aspects | Gene mutations | Analysis | Endothelium | Eye diseases | Cornea | Genetic disorders | Index Medicus
Journal Article