Imelda Hughes
Royal Manchester Children's Hospital(GB)
Publications by Year
Research Areas
Muscle Physiology and Disorders, Mitochondrial Function and Pathology, Neurogenetic and Muscular Disorders Research, Metabolism and Genetic Disorders, Genomics and Rare Diseases
Most-Cited Works
- → Ataluren in patients with nonsense mutation Duchenne muscular dystrophy (ACT DMD): a multicentre, randomised, double-blind, placebo-controlled, phase 3 trial(2017)451 cited
- → Mutations in the skeletal muscle α-actin gene in patients with actin myopathy and nemaline myopathy(1999)399 cited
- → British Thoracic Society guideline for respiratory management of children with neuromuscular weakness(2012)379 cited
- → Mutations in CTC1, encoding conserved telomere maintenance component 1, cause Coats plus(2012)287 cited
- → Long-term benefits and adverse effects of intermittent versus daily glucocorticoids in boys with Duchenne muscular dystrophy(2012)256 cited
- → Treatable childhood neuronopathy caused by mutations in riboflavin transporter RFVT2(2013)179 cited
- → Clinical and genetic findings in a large cohort of patients with ryanodine receptor 1 gene-associated myopathies(2012)167 cited
- → De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias(2018)148 cited
- → Mutations in SNORD118 cause the cerebral microangiopathy leukoencephalopathy with calcifications and cysts(2016)145 cited
- → Nusinersen in patients older than 7 months with spinal muscular atrophy type 1(2018)120 cited