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Human mutation, ISSN 1059-7794, 2015, Volume 36, Issue 4, pp. 395 - 402
Journal Article
PLoS ONE, ISSN 1932-6203, 02/2017, Volume 12, Issue 2, p. e0172674
Journal Article
BMC medical genetics, ISSN 1471-2350, 2013, Volume 14, Issue 1, pp. 29 - 29
Background: Large-scale analysis of the transmission, mutation characteristics and the relationship between the reading frame and phenotype of the DMD gene has previously been performed in several countries... 
Becker muscular dystrophy | DUPLICATIONS | X-CHROMOSOME | MECHANISMS | REARRANGEMENTS | MLPA | MESSENGER-RNA | SHORT ARM | Duchenne muscular dystrophy | DMD gene | GENETICS & HEREDITY | DUCHENNE MUSCULAR-DYSTROPHY | PROBE-AMPLIFICATION | DELETIONS | Phenotype | Dystrophin - genetics | Exons | Humans | Asian Continental Ancestry Group - genetics | Genotype | Male | Muscular Dystrophy, Duchenne - genetics | Mutation
Journal Article
PLoS ONE, ISSN 1932-6203, 08/2012, Volume 7, Issue 8, p. e43515
Journal Article
Human mutation, ISSN 1098-1004, 2009, Volume 30, Issue 6, pp. 934 - 945
Journal Article
Nature Communications, ISSN 2041-1723, 12/2018, Volume 9, Issue 1, pp. 5410 - 6
.... To better understand the genetic bases for ONB, here we perform whole exome and whole genome sequencing as well as single nucleotide polymorphism array analyses in a series of ONB patient samples... 
SURVIVAL | GENE | LAMA2 | ESTHESIONEUROBLASTOMA | CGH | MULTIDISCIPLINARY SCIENCES | PATTERNS | HYBRIDIZATION | MICE | MUTATIONS | CANCER | Genomic analysis | Genes | Single-nucleotide polymorphism | Genomes | Neuroblastoma | Dystrophin | Polymorphism | Tumors | Gene sequencing
Journal Article
PloS one, ISSN 1932-6203, 2018, Volume 13, Issue 3, p. e0194540
...About the Authors: Valentina Sardone Roles Conceptualization, Data curation, Formal analysis, Investigation, Methodology, Project administration, Validation... 
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
Journal Article
Journal of human genetics, ISSN 1435-232X, 2015, Volume 60, Issue 8, pp. 435 - 442
Journal Article
The Journal of cell biology, ISSN 0021-9525, 12/2000, Volume 151, Issue 6, pp. 1321 - 1336
We used expression profiling to define the pathophysiological cascades involved in the progression of two muscular dystrophies with known primary biochemical... 
Up regulation | Dendritic cells | RNA | Duchenne muscular dystrophy | Genes | Muscles | Actins | Muscular dystrophies | Biopsies | Gene expression regulation | Expression profiling | α-sarcoglycan | Microarray | Dystrophin | Muscular dystrophy | alpha-sarcoglycan | MDX MOUSE | PROTEIN | DENDRITIC CELLS | expression profiling | MAST-CELLS | GAMMA-SARCOGLYCAN | dystrophin | CELL BIOLOGY | SKELETAL-MUSCLE | OLIGONUCLEOTIDE ARRAYS | MESSENGER-RNAS | muscular dystrophy | microarray | GENE | EXTRACELLULAR-MATRIX | Chondroitin Sulfate Proteoglycans - genetics | Oligonucleotide Array Sequence Analysis | Thrombospondins - genetics | Humans | Myosin Heavy Chains - genetics | Male | Muscular Dystrophies - genetics | Muscular Dystrophy, Duchenne - etiology | Actins - genetics | Cytoskeletal Proteins - deficiency | HLA-DR Antigens - genetics | Osteonectin - genetics | Actins - analysis | Dystrophin - deficiency | Muscle, Skeletal - chemistry | Female | Muscular Dystrophies - etiology | Child | Myosin Heavy Chains - analysis | Chondroitin Sulfate Proteoglycans - analysis | Thrombospondins - analysis | Lectins, C-Type | Gene Expression Profiling - methods | Factor VIIIa - genetics | Versicans | Biopsy | Osteonectin - analysis | Sarcoglycans | Factor VIIIa - analysis | HLA-DR Antigens - analysis | Muscular Dystrophy, Duchenne - genetics | Membrane Glycoproteins - deficiency | Physiological aspects | Cell research | Research | Gene expression | Analysis | Original
Journal Article