Area of research
Neurology · Pathology and Forensic Medicine
Research interest
Research interests include Multiple Sclerosis Research Studies, Peripheral Neuropathies and Disorders, Autoimmune Neurological Disorders and Treatments, and RNA regulation and disease.
Enabling new insights from old scans by repurposing clinical MRI archives for multiple sclerosis research
The natural history of variable subtypes in pediatric-onset TUBB4A-related leukodystrophy
Slowly Expanding Lesions in Pediatric-Onset Multiple Sclerosis
Paramagnetic Rim Lesions in Pediatric Multiple Sclerosis and Their Association With Brain Tissue Atrophy
Reduced brain volumes in children with radiologically isolated syndrome
Severe Pediatric Neurological Manifestations With SARS-CoV-2 or MIS-C Hospitalization and New Morbidity
Do Early Relapses Predict the Risk of Long‐Term Relapsing Disease in an Adult and Paediatric Cohort with <scp>MOGAD</scp>?
E.U. paediatric MOG consortium consensus: Part 5 – Treatment of paediatric myelin oligodendrocyte glycoprotein antibody-associated disorders
Genetic and phenotypic spectrum associated with IFIH1 gain‐of‐function
Neuroinflammatory Disease as an Isolated Manifestation of Hemophagocytic Lymphohistiocytosis
E.U. paediatric MOG consortium consensus: Part 2 – Neuroimaging features of paediatric myelin oligodendrocyte glycoprotein antibody-associated disorders
Bi-allelic Loss-of-Function CACNA1B Mutations in Progressive Epilepsy-Dyskinesia
Early predictors of epilepsy and subsequent relapse in children with acute disseminated encephalomyelitis
Paediatric multiple sclerosis: a new era in diagnosis and treatment
Disease Course and Treatment Responses in Children With Relapsing Myelin Oligodendrocyte Glycoprotein Antibody–Associated Disease
Myelin oligodendrocyte glycoprotein and aquaporin‐4 antibodies are highly specific in children with acquired demyelinating syndromes
Paediatric acute disseminated encephalomyelitis followed by optic neuritis: disease course, treatment response and outcome
Retinal nerve fibre layer thinning is associated with worse visual outcome after optic neuritis in children with a relapsing demyelinating syndrome
A framework for measurement and harmonization of pediatric multiple sclerosis etiologic research studies: The Pediatric MS Tool-Kit
Progressive deafness–dystonia due to <i>SERAC1</i> mutations: A study of 67 cases
Efficacy and safety of cyclic pyranopterin monophosphate substitution in severe molybdenum cofactor deficiency type A: a prospective cohort study
Eyes on MEGDEL: Distinctive Basal Ganglia Involvement in Dystonia Deafness Syndrome
Mutations in CECR1 associated with a neutrophil signature in peripheral blood
International Pediatric Multiple Sclerosis Study Group criteria for pediatric multiple sclerosis and immune-mediated central nervous system demyelinating disorders: revisions to the 2007 definitions
Mutations in ADAR1 cause Aicardi-Goutières syndrome associated with a type I interferon signature