Area of research
Genetics · Clinical Psychology
Research interest
Research interests include Neurogenetic and Muscular Disorders Research, Genetics and Neurodevelopmental Disorders, Family and Disability Support Research, and Amyotrophic Lateral Sclerosis Research.
Gene therapies for neurogenetic disorders
Results from the phase 2/3 DAFFODIL study of trofinetide in girls aged 2–4 years with Rett syndrome
Trofinetide for the treatment of Rett syndrome: Results from the open-label extension LILAC study
Trofinetide for the treatment of Rett syndrome: Long-term safety and efficacy results of the 32-month, open-label LILAC-2 study
Development of trofinetide for the treatment of Rett syndrome: from bench to bedside
Trofinetide for the treatment of Rett syndrome: a randomized phase 3 study
Antisense oligonucleotide targeting DMPK in patients with myotonic dystrophy type 1: a multicentre, randomised, dose-escalation, placebo-controlled, phase 1/2a trial
Trofinetide Treatment Demonstrates a Benefit Over Placebo for the Ability to Communicate in Rett Syndrome
Nusinersen improves walking distance and reduces fatigue in later‐onset spinal muscular atrophy
Nusinersen versus Sham Control in Later-Onset Spinal Muscular Atrophy
Evaluator Training and Reliability for SMA Global Nusinersen Trials
Reliability of functional outcome measures in spinal muscular atrophy: Results from multi-centered, global, phase 3 clinical trials (S13.004)
Treatment of infantile-onset spinal muscular atrophy with nusinersen: a phase 2, open-label, dose-escalation study
Results from a phase 1 study of nusinersen (ISIS-SMN <sub>Rx</sub> ) in children with spinal muscular atrophy
A phase1 study of stereotactic gene delivery of AAV2‐NGF for Alzheimer's disease
An antisense oligonucleotide against SOD1 delivered intrathecally for patients with SOD1 familial amyotrophic lateral sclerosis: a phase 1, randomised, first-in-man study