Area of research
Genetics · Neurology
Research interest
Research interests include Neurogenetic and Muscular Disorders Research, Amyotrophic Lateral Sclerosis Research, Peripheral Neuropathies and Disorders, and Cardiomyopathy and Myosin Studies.
Safety and efficacy of apitegromab in nonambulatory type 2 or type 3 spinal muscular atrophy (SAPPHIRE): a phase 3, double-blind, randomised, placebo-controlled trial
Intrathecal onasemnogene abeparvovec for treatment-experienced patients with spinal muscular atrophy: a phase 3b, open-label trial
2024 update: European consensus statement on gene therapy for spinal muscular atrophy
Lung function decline preceding chronic respiratory failure in spinal muscular atrophy: a national prospective cohort study
Evidence for Beneficial Effect of Daily Use of Mechanical Insufflation-Exsufflation in Patients With Neuromuscular Diseases
Impact of contractures on daily functioning in adolescents with spinal muscular atrophy: a qualitative study
Natural history of respiratory muscle strength in spinal muscular atrophy: a prospective national cohort study
Randomized double-blind placebo-controlled crossover trial with pyridostigmine in spinal muscular atrophy types 2–4
Breakthrough infections with the SARS-CoV-2 omicron (B.1.1.529) variant in patients with immune-mediated inflammatory diseases
Anti-C2 Antibody ARGX-117 Inhibits Complement in a Disease Model for Multifocal Motor Neuropathy
Utrecht University Repository (Utrecht University) 2022cited by 18position: middle
Multi‐parametric quantitative magnetic resonance imaging of the upper arm muscles of patients with spinal muscular atrophy
Inflammatory markers in cerebrospinal fluid of paediatric spinal muscular atrophy patients receiving nusinersen treatment
Quantification of disease progression in spinal muscular atrophy with muscle MRI—a pilot study
Magnetic resonance reveals mitochondrial dysfunction and muscle remodelling in spinal muscular atrophy
Mastication in Patients with Spinal Muscular Atrophy Types 2 and 3 is Characterized by Abnormal Efficiency, Reduced Endurance, and Fatigue
Motor unit reserve capacity in spinal muscular atrophy during fatiguing endurance performance
Parents’ perspectives on nusinersen treatment for children with spinal muscular atrophy
Spinal Muscular Atrophy Patient iPSC-Derived Motor Neurons Display Altered Proteomes at Early Stages of Differentiation
Natural history of lung function in spinal muscular atrophy
European ad-hoc consensus statement on gene replacement therapy for spinal muscular atrophy
Quantitative MRI of skeletal muscle in a cross‐sectional cohort of patients with spinal muscular atrophy types 2 and 3
T<sub>2</sub> relaxation‐time mapping in healthy and diseased skeletal muscle using extended phase graph algorithms
Assessment of motor unit loss in patients with spinal muscular atrophy
Biomarker profiles of endothelial activation and dysfunction in rare systemic autoimmune diseases: implications for cardiovascular risk
Low interrater reliability of brachial plexus MRI in chronic inflammatory neuropathies
Quantitative assessment of brachial plexus MRI for the diagnosis of chronic inflammatory neuropathies
Impact of newborn screening for very‐long‐chain acyl‐CoA dehydrogenase deficiency on genetic, enzymatic, and clinical outcomes
Magnetic resonance imaging of the cervical spinal cord in spinal muscular atrophy
Protocol for a phase II, monocentre, double-blind, placebo-controlled, cross-over trial to assess efficacy of pyridostigmine in patients with spinal muscular atrophy types 2–4 (SPACE trial)
Nerve ultrasound and magnetic resonance imaging in the diagnosis of neuropathy
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