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Brain, ISSN 0006-8950, 2013, Volume 136, Issue 1, pp. 269 - 281
Journal Article
Molecular Genetics & Genomic Medicine, ISSN 2324-9269, 07/2015, Volume 3, Issue 4, pp. 320 - 326
We report a dystrophinopathy patient with an in‐frame deletion of DMD exons 45–47, and therefore a genetic diagnosis of Becker muscular dystrophy, who... 
dystrophin | Cryptic splicing | Duchenne/Becker muscular dystrophy | exon splicing enhancer | pseudoexon | GENETICS & HEREDITY | Becker muscular dystrophy | Duchenne | Original
Journal Article
Journal Article
Muscle & Nerve, ISSN 0148-639X, 10/2014, Volume 50, Issue 4, pp. 477 - 487
Journal Article
Neurology, ISSN 0028-3878, 09/2018, Volume 91, Issue 13, pp. e1215 - e1219
OBJECTIVETo evaluate the relationship between deficit in digit span and genotype in nonsense mutation (nm) Duchenne muscular dystrophy (DMD) (nmDMD). METHODSWe... 
BOYS | ISOFORM | INTELLECTUAL IMPAIRMENT | CLINICAL NEUROLOGY | WORKING-MEMORY
Journal Article
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