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UnknownLaminin α2 Deficiency-Related Muscular Dystrophy Mimicking Emery-Dreifuss and Collagen VI related Diseases.
Not available
S-EPMC5240538 | biostudies-literature
UnknownA retrospective cohort study and review of the literature about germline mosaicism in Duchenne/Becker muscular dystrophy prenatal counseling: How to estimate the recurrence risk in clinical settings?
Not available
S-EPMC11735244 | biostudies-literature
UnknownAssessment of the structural and functional impact of in-frame mutations of the DMD gene, using the tools included in the eDystrophin online database.
Not available
S-EPMC3748829 | biostudies-literature
UnknownComparative analyses of Netherton syndrome patients and Spink5 conditional knock-out mice uncover disease-relevant pathways.
Not available
S-EPMC10844249 | biostudies-literature
UnknownmiR-708-5p and miR-34c-5p are involved in nNOS regulation in dystrophic context.
Not available
S-EPMC5924477 | biostudies-literature
UnknownNon-invasive prenatal diagnosis of single gene disorders with enhanced relative haplotype dosage analysis for diagnostic implementation.
Not available
S-EPMC10124834 | biostudies-literature
UnknownNovel Exon-Skipping Therapeutic Approach for the DMD Gene Based on Asymptomatic Deletions of Exon 49.
Not available
S-EPMC9323532 | biostudies-literature
UnknownMuscle metabolic remodelling patterns in Duchenne muscular dystrophy revealed by ultra-high-resolution mass spectrometry imaging.
Not available
S-EPMC7819988 | biostudies-literature
UnknownDp412e: a novel human embryonic dystrophin isoform induced by BMP4 in early differentiated cells.
Not available
S-EPMC4644319 | biostudies-literature
UnknownNatural History of Cardiac and Respiratory Involvement, Prognosis and Predictive Factors for Long-Term Survival in Adult Patients with Limb Girdle Muscular Dystrophies Type 2C and 2D.
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S-EPMC4847860 | biostudies-literature
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