Area of research
Molecular Biology · Cellular and Molecular Neuroscience
Research interest
Research interests include Muscle Physiology and Disorders, Genetic Neurodegenerative Diseases, Neurogenetic and Muscular Disorders Research, and Inflammatory Myopathies and Dermatomyositis.
A CCG expansion in ABCD3 causes oculopharyngodistal myopathy in individuals of European ancestry
Safety and efficacy of arimoclomol for inclusion body myositis: a multicentre, randomised, double-blind, placebo-controlled trial
Effect of Different Corticosteroid Dosing Regimens on Clinical Outcomes in Boys With Duchenne Muscular Dystrophy
Development of a standard of care for patients with valosin-containing protein associated multisystem proteinopathy
Randomized phase 2 study of<scp>ACE</scp>‐083, a<scp>muscle‐promoting</scp>agent, in facioscapulohumeral muscular dystrophy
Patient Assisted Intervention for Neuropathy: Comparison of Treatment in Real Life Situations (PAIN-CONTRoLS)
Novel clinical features of glycine receptor antibody syndrome
Limb‐girdle muscular dystrophy: A perspective from adult patients on what matters most
Genetic landscape and novel disease mechanisms from a large <scp>LGMD</scp> cohort of 4656 patients
A checklist for clinical trials in rare disease: obstacles and anticipatory actions—lessons learned from the FOR-DMD trial
A phase 3 randomized placebo-controlled trial of tadalafil for Duchenne muscular dystrophy
Developing standardized corticosteroid treatment for Duchenne muscular dystrophy
A randomized controlled trial of methotrexate for patients with generalized myasthenia gravis