Oliver Quarrell
Sheffield Children's Hospital(GB)
Publications by Year
Research Areas
Genetic Neurodegenerative Diseases, Neurological disorders and treatments, Mitochondrial Function and Pathology, Genomic variations and chromosomal abnormalities, Genomics and Rare Diseases
Most-Cited Works
- → Mutations in genes encoding ribonuclease H2 subunits cause Aicardi-Goutières syndrome and mimic congenital viral brain infection(2006)670 cited
- → Mutations in KIF11 Cause Autosomal-Dominant Microcephaly Variably Associated with Congenital Lymphedema and Chorioretinopathy(2012)188 cited
- → The Essential Role of Centrosomal NDE1 in Human Cerebral Cortex Neurogenesis(2011)162 cited
- → The Global Prevalence of Huntington’s Disease: A Systematic Review and Discussion(2016)117 cited
- → Safety and efficacy of pridopidine in patients with Huntington's disease (PRIDE-HD): a phase 2, randomised, placebo-controlled, multicentre, dose-ranging study(2018)105 cited
- → Microcephaly with or without chorioretinopathy, lymphoedema, or mental retardation (MCLMR): review of phenotype associated with KIF11 mutations(2013)92 cited