Pages that link to "Q36116293"
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The following pages link to Mutational spectrum of DMD mutations in dystrophinopathy patients: application of modern diagnostic techniques to a large cohort (Q36116293):
Displaying 50 items.
- Interventions to prevent steroid-induced osteoporosis and osteoporotic fractures in Duchenne muscular dystrophy (Q24198280) (← links)
- Dystrophin-deficient large animal models: translational research and exon skipping (Q26781901) (← links)
- Dystrophin and the two related genetic diseases, Duchenne and Becker muscular dystrophies (Q26795772) (← links)
- Animal models of Duchenne muscular dystrophy: from basic mechanisms to gene therapy (Q28084979) (← links)
- 204th ENMC International Workshop on Biomarkers in Duchenne Muscular Dystrophy 24-26 January 2014, Naarden, The Netherlands (Q28611318) (← links)
- The Dystrophin Complex: Structure, Function, and Implications for Therapy (Q30376293) (← links)
- DMD Mutations in 576 Dystrophinopathy Families: A Step Forward in Genotype-Phenotype Correlations (Q30378068) (← links)
- An intronic LINE-1 element insertion in the dystrophin gene aborts dystrophin expression and results in Duchenne-like muscular dystrophy in the corgi breed (Q30497616) (← links)
- Clinical outcome measures for trials in Duchenne muscular dystrophy: report from International Working Group meetings (Q30514152) (← links)
- The polyproline site in hinge 2 influences the functional capacity of truncated dystrophins (Q33587381) (← links)
- Antisense Oligonucleotides Promote Exon Inclusion and Correct the Common c.-32-13T>G GAA Splicing Variant in Pompe Disease (Q33635367) (← links)
- The golden retriever model of Duchenne muscular dystrophy (Q33709114) (← links)
- Clinical and molecular characterization of a cohort of patients with novel nucleotide alterations of the Dystrophin gene detected by direct sequencing (Q33843901) (← links)
- LTBP4 genotype predicts age of ambulatory loss in Duchenne muscular dystrophy (Q33931637) (← links)
- Conserved regions of the DMD 3' UTR regulate translation and mRNA abundance in cultured myotubes (Q33965999) (← links)
- The ZZ domain of dystrophin in DMD: making sense of missense mutations. (Q34094400) (← links)
- The cooperative international neuromuscular research group Duchenne natural history study--a longitudinal investigation in the era of glucocorticoid therapy: design of protocol and the methods used (Q34103360) (← links)
- Translation from a DMD exon 5 IRES results in a functional dystrophin isoform that attenuates dystrophinopathy in humans and mice (Q34194689) (← links)
- Nonsense mutation-associated Becker muscular dystrophy: interplay between exon definition and splicing regulatory elements within the DMD gene (Q34221402) (← links)
- A defect in dystrophin causes a novel porcine stress syndrome. (Q34301053) (← links)
- One year outcome of boys with Duchenne muscular dystrophy using the Bayley-III scales of infant and toddler development (Q34341005) (← links)
- A phase 1/2a follistatin gene therapy trial for becker muscular dystrophy. (Q34443876) (← links)
- Current status of pharmaceutical and genetic therapeutic approaches to treat DMD. (Q34994545) (← links)
- Duchenne muscular dystrophy gene therapy: Lost in translation? (Q35052506) (← links)
- Whole dystrophin gene analysis by next-generation sequencing: a comprehensive genetic diagnosis of Duchenne and Becker muscular dystrophy (Q35158277) (← links)
- Clinical phenotypes as predictors of the outcome of skipping around DMD exon 45. (Q35224393) (← links)
- The TREAT-NMD DMD Global Database: analysis of more than 7,000 Duchenne muscular dystrophy mutations (Q35508913) (← links)
- Modeling and study of the mechanism of dilated cardiomyopathy using induced pluripotent stem cells derived from individuals with Duchenne muscular dystrophy (Q35558056) (← links)
- Novel mini-dystrophin gene dual adeno-associated virus vectors restore neuronal nitric oxide synthase expression at the sarcolemma (Q35678425) (← links)
- A simplified immune suppression scheme leads to persistent micro-dystrophin expression in Duchenne muscular dystrophy dogs (Q35751578) (← links)
- Age-matched comparison reveals early electrocardiography and echocardiography changes in dystrophin-deficient dogs (Q35819142) (← links)
- Contemporary cardiac issues in Duchenne muscular dystrophy. Working Group of the National Heart, Lung, and Blood Institute in collaboration with Parent Project Muscular Dystrophy (Q36069707) (← links)
- Genome-wide association study to identify potential genetic modifiers in a canine model for Duchenne muscular dystrophy (Q36109634) (← links)
- DMDtoolkit: a tool for visualizing the mutated dystrophin protein and predicting the clinical severity in DMD (Q36268132) (← links)
- Structural Basis of Neuronal Nitric-oxide Synthase Interaction with Dystrophin Repeats 16 and 17. (Q36444111) (← links)
- Left ventricular dysfunction in duchenne muscular dystrophy and genotype (Q36623368) (← links)
- A Streamlined Protocol for Molecular Testing of the DMD Gene within a Diagnostic Laboratory: A Combination of Array Comparative Genomic Hybridization and Bidirectional Sequence Analysis (Q36641176) (← links)
- Microdystrophin ameliorates muscular dystrophy in the canine model of duchenne muscular dystrophy (Q36740284) (← links)
- Progress in gene therapy of dystrophic heart disease (Q36773242) (← links)
- Muscle satellite cells from GRMD dystrophic dogs are not phenotypically distinguishable from wild type satellite cells in ex vivo culture. (Q36802239) (← links)
- Read-through strategies for suppression of nonsense mutations in Duchenne/ Becker muscular dystrophy: aminoglycosides and ataluren (PTC124). (Q36907558) (← links)
- In vivo gene editing in dystrophic mouse muscle and muscle stem cells (Q37045850) (← links)
- Genetic diagnosis of Duchenne/Becker muscular dystrophy using next-generation sequencing: validation analysis of DMD mutations (Q37060591) (← links)
- Modifying muscular dystrophy through transforming growth factor-β. (Q37064241) (← links)
- Motor and cognitive assessment of infants and young boys with Duchenne Muscular Dystrophy: results from the Muscular Dystrophy Association DMD Clinical Research Network (Q37095860) (← links)
- Assessment of the structural and functional impact of in-frame mutations of the DMD gene, using the tools included in the eDystrophin online database (Q37109015) (← links)
- Comparative Genomics of X-linked Muscular Dystrophies: The Golden Retriever Model (Q37148808) (← links)
- Reading frame correction by targeted genome editing restores dystrophin expression in cells from Duchenne muscular dystrophy patients. (Q37181372) (← links)
- Gene Dosage Analysis in a Clinical Environment: Gene-Targeted Microarrays as the Platform-of-Choice (Q37214273) (← links)
- 'Double trouble': diagnostic challenges in Duchenne muscular dystrophy in patients with an additional hereditary skeletal dysplasia (Q37271982) (← links)