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Search results (344)

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Corrigendum to "Long-term clinical follow-up of a family with Becker muscular dystrophy associated with a large deletion in the DMD gene" Neuromuscular Disorders 39 (2024) 5-9.

Davies KE. and Vogt J., (2024), Neuromuscul Disord, 39

Personal journeys to and in human genetics and dysmorphology.

Schwartz CE. et al, (2024), Am J Med Genet A, 194

Long-term clinical follow-up of a family with Becker muscular dystrophy associated with a large deletion in the DMD gene.

Davies KE. and Vogt J., (2024), Neuromuscul Disord, 39, 5 - 9

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

Evaluating the potential of novel genetic approaches for the treatment of Duchenne muscular dystrophy.

Himič V. and Davies KE., (2021), Eur J Hum Genet, 29, 1369 - 1376

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

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

From diagnosis to therapy in Duchenne muscular dystrophy.

Babbs A. et al, (2020), Biochem Soc Trans, 48, 813 - 821

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

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