Personal journeys to and in human genetics and dysmorphology.
Schwartz CE. et al, (2024), Am J Med Genet A, 194
Therapeutic approaches for Duchenne muscular dystrophy.
Roberts TC. et al, (2023), Nat Rev Drug Discov, 22, 917 - 934
Utrophin correlates with disease severity in Duchenne muscular dystrophy.
Guiraud S. and Davies K., (2023), Med, 4, 220 - 222
Discovery and mechanism of action studies of 4,6-diphenylpyrimidine-2-carbohydrazides as utrophin modulators for the treatment of Duchenne muscular dystrophy.
Vuorinen A. et al, (2021), Eur J Med Chem, 220
Evaluating the potential of novel genetic approaches for the treatment of Duchenne muscular dystrophy.
Himič V. and Davies KE., (2021), Eur J Hum Genet
Highway to HHGE: An Interview with Dame Kay E. Davies.
Davies K. and Davies KE., (2020), CRISPR J, 3, 325 - 331
Isolation, Structural Identification, Synthesis, and Pharmacological Profiling of 1,2-trans-Dihydro-1,2-diol Metabolites of the Utrophin Modulator Ezutromid.
Chatzopoulou M. et al, (2020), J Med Chem, 63, 2547 - 2556
Publisher Correction: Therapies for rare diseases: therapeutic modalities, progress and challenges ahead.
Tambuyzer E. et al, (2020), Nat Rev Drug Discov
Chemical Proteomics and Phenotypic Profiling Identifies the Aryl Hydrocarbon Receptor as a Molecular Target of the Utrophin Modulator Ezutromid.
Wilkinson IVL. et al, (2019), Angew Chem Int Ed Engl
Neuronal over-expression of Oxr1 is protective against ALS-associated mutant TDP-43 mislocalisation in motor neurons and neuromuscular defects in vivo.
Williamson MG. et al, (2019), Hum Mol Genet, 28, 3584 - 3599
Surrogate gene therapy for muscular dystrophy.
Davies KE. and Chamberlain JS., (2019), Nat Med, 25, 1473 - 1474
Regenerative biomarkers for Duchenne muscular dystrophy
Guiraud S. and Davies KE., (2019), Neural Regeneration Research, 14, 1317 - 1320
Limitations to adaptive homeostasis in an hyperoxia-induced model of accelerated ageing.
Pomatto LCD. et al, (2019), Redox Biol, 24
The potential of utrophin and dystrophin combination therapies for Duchenne muscular dystrophy.
Guiraud S. et al, (2019), Hum Mol Genet
Micro-dystrophin Genes Bring Hope of an Effective Therapy for Duchenne Muscular Dystrophy.
Davies KE. and Guiraud S., (2019), Mol Ther
A Phase 1b Trial to Assess the Pharmacokinetics of Ezutromid in Pediatric Duchenne Muscular Dystrophy Patients on a Balanced Diet.
Muntoni F. et al, (2019), Clin Pharmacol Drug Dev
Embryonic myosin is a regeneration marker to monitor utrophin-based therapies for DMD.
Guiraud S. et al, (2019), Hum Mol Genet, 28, 307 - 319
Synthesis of SMT022357 enantiomers and in vivo evaluation in a Duchenne muscular dystrophy mouse model
Babbs A. et al, (2019), Tetrahedron