Pages that link to "Q41827189"
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The following pages link to Kevin M. Flanigan (Q41827189):
Displaying 50 items.
- Proteomic identification of FHL1 as the protein mutated in human reducing body myopathy (Q24647512) (← links)
- A comparative study of N-glycolylneuraminic acid (Neu5Gc) and cytotoxic T cell (CT) carbohydrate expression in normal and dystrophin-deficient dog and human skeletal muscle (Q27322890) (← links)
- The TREAT-NMD advisory committee for therapeutics (TACT): an innovative de-risking model to foster orphan drug development (Q28088277) (← links)
- Selenoprotein N is required for ryanodine receptor calcium release channel activity in human and zebrafish muscle (Q28117333) (← links)
- Abnormal expression of mu-crystallin in facioscapulohumeral muscular dystrophy (Q28298936) (← links)
- Identification of new dystroglycan complexes in skeletal muscle (Q28535211) (← links)
- A randomized, double-blind trial of lisinopril and losartan for the treatment of cardiomyopathy in duchenne muscular dystrophy (Q30445425) (← links)
- Automated genomic sequence analysis of the three collagen VI genes: applications to Ullrich congenital muscular dystrophy and Bethlem myopathy. (Q30478574) (← links)
- Dystrophin as a therapeutic biomarker: are we ignoring data from the past? (Q30809362) (← links)
- Exome sequencing identifies a DNAJB6 mutation in a family with dominantly-inherited limb-girdle muscular dystrophy (Q33581928) (← links)
- Rapid direct sequence analysis of the dystrophin gene (Q33905096) (← links)
- LTBP4 genotype predicts age of ambulatory loss in Duchenne muscular dystrophy (Q33931637) (← links)
- A mutation in the SEPN1 selenocysteine redefinition element (SRE) reduces selenocysteine incorporation and leads to SEPN1-related myopathy (Q34015865) (← links)
- The ZZ domain of dystrophin in DMD: making sense of missense mutations. (Q34094400) (← links)
- Clinical and genetic characterization of manifesting carriers of DMD mutations (Q34151973) (← 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)
- Sustained alpha-sarcoglycan gene expression after gene transfer in limb-girdle muscular dystrophy, type 2D. (Q34266296) (← links)
- Expression profiling of FSHD muscle supports a defect in specific stages of myogenic differentiation. (Q34266381) (← 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)
- Localization of the giant axonal neuropathy gene to chromosome 16q24. (Q34454721) (← links)
- Ataluren treatment of patients with nonsense mutation dystrophinopathy (Q34561960) (← links)
- Dystrophin quantification: Biological and translational research implications (Q34591203) (← links)
- Proof of concept of the ability of the kinect to quantify upper extremity function in dystrophinopathy (Q34630606) (← links)
- Outcome reliability in non-ambulatory boys/men with Duchenne muscular dystrophy (Q35009178) (← links)
- Phase 2a study of ataluren-mediated dystrophin production in patients with nonsense mutation Duchenne muscular dystrophy (Q35069526) (← links)
- Early-progressive dilated cardiomyopathy in a family with Becker muscular dystrophy related to a novel frameshift mutation in the dystrophin gene exon 27 (Q35220292) (← 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)
- How a patient advocacy group developed the first proposed draft guidance document for industry for submission to the U.S. Food and Drug Administration (Q35801586) (← links)
- RNA interference inhibits DUX4-induced muscle toxicity in vivo: implications for a targeted FSHD therapy. (Q36085352) (← links)
- Mutational spectrum of DMD mutations in dystrophinopathy patients: application of modern diagnostic techniques to a large cohort (Q36116293) (← links)
- Dp412e: a novel human embryonic dystrophin isoform induced by BMP4 in early differentiated cells. (Q36278519) (← links)
- EPG5-related Vici syndrome: a paradigm of neurodevelopmental disorders with defective autophagy (Q36615500) (← links)
- Mitochondrial fusion and function in Charcot-Marie-Tooth type 2A patient fibroblasts with mitofusin 2 mutations (Q36692919) (← 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)
- DMD exon 1 truncating point mutations: amelioration of phenotype by alternative translation initiation in exon 6. (Q37144701) (← links)
- Clinical, histological and genetic characterization of reducing body myopathy caused by mutations in FHL1. (Q37300276) (← links)
- Canine models of Duchenne muscular dystrophy and their use in therapeutic strategies (Q37548291) (← links)
- Targeted exon skipping to correct exon duplications in the dystrophin gene. (Q37695543) (← links)
- Cardiac management in neuromuscular diseases. (Q38058624) (← links)
- Duchenne and Becker muscular dystrophies. (Q38230979) (← links)
- The TREAT-NMD Duchenne muscular dystrophy registries: conception, design, and utilization by industry and academia (Q38406108) (← links)
- Genetics and emerging treatments for Duchenne and Becker muscular dystrophy. (Q38506553) (← links)
- Recoding elements located adjacent to a subset of eukaryal selenocysteine-specifying UGA codons. (Q40442502) (← links)
- Anti-dystrophin T cell responses in Duchenne muscular dystrophy: prevalence and a glucocorticoid treatment effect (Q41827136) (← links)
- Spinocerebellar ataxia type 31 is associated with "inserted" penta-nucleotide repeats containing (TGGAA)n (Q42034899) (← links)
- Pharmacokinetics and safety of single doses of drisapersen in non-ambulant subjects with Duchenne muscular dystrophy: results of a double-blind randomized clinical trial (Q42040222) (← links)
- Feasibility and safety of systemic rAAV9-hNAGLU delivery for treating mucopolysaccharidosis IIIB: toxicology, biodistribution, and immunological assessments in primates (Q42225564) (← links)