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Search results (346)

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Synthesis of aryl-fused bicyclo[3.1.1]heptanes and validation as naphthyl bioisosteres.

Kerckhoffs A. et al, (2026), Nat Chem

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

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

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

Dysregulation of Tweak and Fn14 in skeletal muscle of spinal muscular atrophy mice.

Meijboom KE. et al, (2022), Skelet Muscle, 12

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

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