Area of research
Cellular and Molecular Neuroscience · Molecular Biology
Research interest
Research focused on Spinocerebellar ataxia and Ataxia, with related work in Neurodegeneration, Hazard ratio, Cervical Artery. Notable publications include 'Genetic risk factors for ischaemic stroke and its subtypes (the METASTROKE Collaboration): a meta-analysis of genome-wide association studies', 'Long-term disease progression in spinocerebellar ataxia types 1, 2, 3, and 6: a longitudinal cohort study', and 'Epilepsy, hippocampal sclerosis and febrile seizures linked by common genetic variation around SCN1A'.
Genetic Risk Score for Intracranial Aneurysms: Prediction of Subarachnoid Hemorrhage and Role in Clinical Heterogeneity
SCAview: an Intuitive Visual Approach to the Integrative Analysis of Clinical Data in Spinocerebellar Ataxias
Survival in patients with spinocerebellar ataxia types 1, 2, 3, and 6 (EUROSCA): a longitudinal cohort study
Cervical artery dissection in patients ≥60 years
Friedreich and dominant ataxias: quantitative differences in cerebellar dysfunction measurements
Long-term disease progression in spinocerebellar ataxia types 1, 2, 3, and 6: a longitudinal cohort study
Modulation of the age at onset in spinocerebellar ataxia by CAG tracts in various genes
Unveiling a common mechanism of apoptosis in β-cells and neurons in Friedreich's ataxia
Epilepsy, hippocampal sclerosis and febrile seizures linked by common genetic variation around SCN1A
Consensus Paper: Pathological Mechanisms Underlying Neurodegeneration in Spinocerebellar Ataxias
Genetic risk factors for ischaemic stroke and its subtypes (the METASTROKE Collaboration): a meta-analysis of genome-wide association studies
Migraine in cervical artery dissection and ischemic stroke patients