Area of research
Molecular Biology · Genetics
Research interest
Research interests include Medicine, SMA*, Spinal muscular atrophy, Physical medicine and rehabilitation, Cohort, and Duchenne muscular dystrophy.
Muscle Biopsy Findings in Valosin-Containing Protein Multisystem Proteinopathy
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
Performance of upper limb entry item to predict forced vital capacity in dysferlin-deficient limb girdle muscular dystrophy
2-year Change in Revised Hammersmith Scale scores in a large cohort of untreated paediatric type 2 and 3 SMA participants
Cardiac and pulmonary findings in dysferlinopathy: A 3‐year, longitudinal study
Water T2 could predict functional decline in patients with dysferlinopathy
Functional outcome measures in young, steroid-naïve boys with Duchenne muscular dystrophy
Miyoshi myopathy and limb girdle muscular dystrophy R2 are the same disease
Assessing Dysferlinopathy Patients Over Three Years With a New Motor Scale
Consensus Guidelines for Improving Quality of Assessment and Training for Neuromuscular Diseases
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
Performance of Upper Limb module for Duchenne muscular dystrophy
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
Muscle MRI in patients with dysferlinopathy: pattern recognition and implications for clinical trials
Upper limb function in Duchenne muscular dystrophy: 24 month longitudinal data
Evaluator Training and Reliability for SMA Global Nusinersen Trials
Examining longitudinal functional changes in Dysferlinopathy: The JAIN Clinical Outcome Study (P5.429)
Ataluren in patients with nonsense mutation Duchenne muscular dystrophy (ACT DMD): a multicentre, randomised, double-blind, placebo-controlled, phase 3 trial
Content validity and clinical meaningfulness of the HFMSE in spinal muscular atrophy
Reliability of functional outcome measures in spinal muscular atrophy: Results from multi-centered, global, phase 3 clinical trials (S13.004)
Revised upper limb module for spinal muscular atrophy: Development of a new module
The Clinical Outcome Study for dysferlinopathy
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
Development and psychometric analysis of the Duchenne muscular dystrophy Functional Ability Self-Assessment Tool (DMDSAT)
Hammersmith Functional Motor Scale and Motor Function Measure-20 in non ambulant SMA patients
Measuring clinical effectiveness of medicinal products for the treatment of Duchenne muscular dystrophy
Development of the <scp>P</scp>erformance of the <scp>U</scp>pper <scp>L</scp>imb module for <scp>D</scp>uchenne muscular dystrophy