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
The Long Journey from Diagnosis to Therapy.
Davies KE., (2020), Annu Rev Genomics Hum Genet, 21, 1 - 13
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
Chemical Proteomics and Phenotypic Profiling Identifies the Aryl Hydrocarbon Receptor as a Molecular Target of the Utrophin Modulator Ezutromid.
Wilkinson IVL. et al, (2020), Angew Chem Int Ed Engl, 59, 2420 - 2428
Therapies for rare diseases: therapeutic modalities, progress and challenges ahead.
Tambuyzer E. et al, (2020), Nat Rev Drug Discov, 19, 93 - 111
Synthesis of SMT022357 enantiomers and in vivo evaluation in a Duchenne muscular dystrophy mouse model.
Babbs A. et al, (2020), Tetrahedron, 76
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
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, 8, 922 - 933
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 Regen Res, 14, 1317 - 1320
The potential of utrophin and dystrophin combination therapies for Duchenne muscular dystrophy.
Guiraud S. et al, (2019), Hum Mol Genet, 28, 2189 - 2200
Limitations to adaptive homeostasis in an hyperoxia-induced model of accelerated ageing.
Pomatto LCD. et al, (2019), Redox Biol, 24
Micro-dystrophin Genes Bring Hope of an Effective Therapy for Duchenne Muscular Dystrophy.
Davies KE. and Guiraud S., (2019), Mol Ther, 27, 486 - 488
Embryonic myosin is a regeneration marker to monitor utrophin-based therapies for DMD.
Guiraud S. et al, (2019), Hum Mol Genet, 28, 307 - 319