Area of research
Cellular and Molecular Neuroscience · Genetics
Research interest
Research focused on Spinal and bulbar muscular atrophy and Genetics, with related work in Androgen receptor, Missense mutation, Mutation. Notable publications include 'Senataxin Mutation Reveals How R-Loops Promote Transcription by Blocking DNA Methylation at Gene Promoters', 'Mechanisms, models and biomarkers in amyotrophic lateral sclerosis', and 'Cowchock Syndrome Is Associated with a Mutation in Apoptosis-Inducing Factor'.
Gene therapy with AR isoform 2 rescues spinal and bulbar muscular atrophy phenotype by modulating AR transcriptional activity
Improving the efficacy of exome sequencing at a quaternary care referral centre: novel mutations, clinical presentations and diagnostic challenges in rare neurogenetic diseases
Disease mechanism, biomarker and therapeutics for spinal and bulbar muscular atrophy (SBMA)
Clinical and Molecular Aspects of Senataxin Mutations in Amyotrophic Lateral Sclerosis 4
Senataxin Mutation Reveals How R-Loops Promote Transcription by Blocking DNA Methylation at Gene Promoters
Safety, tolerability, and preliminary efficacy of an IGF-1 mimetic in patients with spinal and bulbar muscular atrophy: a randomised, placebo-controlled trial
A small-molecule Nrf1 and Nrf2 activator mitigates polyglutamine toxicity in spinal and bulbar muscular atrophy
Mutation in<i>CPT1C</i>Associated With Pure Autosomal Dominant Spastic Paraplegia
Sexual Reassignment Fails to Prevent Kennedy’s Disease
Mechanisms, models and biomarkers in amyotrophic lateral sclerosis
Hereditary Spastic Paraplegia Type 43 (SPG43) is Caused by Mutation in<i>C19orf12</i>
Cowchock Syndrome Is Associated with a Mutation in Apoptosis-Inducing Factor
A Loss-of-Function Variant in the Human Histidyl-tRNA Synthetase (<i>HARS</i>) Gene is Neurotoxic In Vivo
Insulinlike Growth Factor (IGF)-1 Administration Ameliorates Disease Manifestations in a Mouse Model of Spinal and Bulbar Muscular Atrophy