Area of research
Genetics · Molecular Biology
Research interest
Research focused on Spinal muscular atrophy and Cohort, with related work in Physical medicine and rehabilitation, Disease, Oligonucleotide. Notable publications include 'Patient-Customized Oligonucleotide Therapy for a Rare Genetic Disease', 'Revised upper limb module for spinal muscular atrophy: Development of a new module', and 'Content validity and clinical meaningfulness of the HFMSE in spinal muscular atrophy'.
593PLongitudinal assessment of 4-year HFMSE changes in SMA II and III patients treated with nusinersen
Determining minimal clinically important differences in the Hammersmith Functional Motor Scale Expanded for untreated spinal muscular atrophy patients: An international study
Disease Trajectories in the Revised Hammersmith Scale in a Cohort of Untreated Patients with Spinal Muscular Atrophy types 2 and 3
Upper limb function changes over 12 months in untreated SMA II and III individuals: an item-level analysis using the Revised Upper Limb Module
2-year Change in Revised Hammersmith Scale scores in a large cohort of untreated paediatric type 2 and 3 SMA participants
Functional outcome measures in young, steroid-naïve boys with Duchenne muscular dystrophy
Nusinersen in pediatric and adult patients with type III spinal muscular atrophy
Revised upper limb module in type II and III spinal muscular atrophy: 24-month changes
Clinical Variability in Spinal Muscular Atrophy Type <scp>III</scp>
Age and baseline values predict 12 and 24-month functional changes in type 2 SMA
SMA: REGISTRIES, BIOMARKERS & OUTCOME MEASURES
Patient-Customized Oligonucleotide Therapy for a Rare Genetic Disease
Nusinersen improves walking distance and reduces fatigue in later‐onset spinal muscular atrophy
P.220The revised Hammersmith scale (RHS) for spinal muscular atrophy: longitudinal trajectories in a large international cohort of patients with type 2 and 3 SMA
Motor Function Test Reliability During the NeuroNEXT Spinal Muscular Atrophy Infant Biomarker Study
Content validity and clinical meaningfulness of the HFMSE in spinal muscular atrophy
Revised upper limb module for spinal muscular atrophy: Development of a new module
Revised Hammersmith scale for spinal muscular atrophy: Longitudinal changes over six and twelve months in a large international cohort
Patterns of disease progression in type 2 and 3 SMA: Implications for clinical trials