ASSOCIATE PROFESSOR Wellcome Trust Clinician Scientist , Honorary Consultant Neurologist
My overall research interest is the application of genetic knowledge to benefit human health. This goal is pursued through three strategic aims: (1) identification of genes associated with neurological diseases, (2) advancement of the current understanding of the molecular mechanisms of pathogenesis in these diseases, and (3) development of effective treatments for hereditary neurological diseases.
Polyglutamine-Expanded Androgen Receptor Alteration of Skeletal Muscle Homeostasis and Myonuclear Aggregation Are Affected by Sex, Age and Muscle Metabolism.
Chivet M. et al, (2020), Cells, 9
Muscle and not neuronal biomarkers correlate with severity in spinal and bulbar muscular atrophy.
Lombardi V. et al, (2019), Neurology, 92, e1205 - e1211
Identification of potent, muscle-targeting investigational stereo-pure oligonucleotides for exon 53 DMD therapy
Durbin A. et al, (2018), NEUROMUSCULAR DISORDERS, 28, S67 - S67
Systemic Delivery of MicroRNA Using Recombinant Adeno-associated Virus Serotype 9 to Treat Neuromuscular Diseases in Rodents.
Pourshafie N. et al, (2018), J Vis Exp
Beyond motor neurons: expanding the clinical spectrum in Kennedy's disease.
Manzano R. et al, (2018), J Neurol Neurosurg Psychiatry, 89, 808 - 812