Area of research
Cellular and Molecular Neuroscience · Neurology
Research interest
Research focused on Hereditary spastic paraplegia and Atrial fibrillation, with related work in Haploinsufficiency, Nonsynonymous substitution, Prospective cohort study. Notable publications include 'Hereditary spastic paraplegia: Clinicogenetic lessons from 608 patients', 'Holter-electrocardiogram-monitoring in patients with acute ischaemic stroke (Find-AF RANDOMISED ): an open-label randomised controlled trial', and 'The spectrum of KIAA0196 variants, and characterization of a murine knockout: implications for the mutational mechanism in hereditary spastic paraplegia type SPG8'.
Holter-electrocardiogram-monitoring in patients with acute ischaemic stroke (Find-AF RANDOMISED ): an open-label randomised controlled trial
Hereditary spastic paraplegia: Clinicogenetic lessons from 608 patients
The spectrum of KIAA0196 variants, and characterization of a murine knockout: implications for the mutational mechanism in hereditary spastic paraplegia type SPG8
<i>AP5Z1/SPG4</i> 8 frequency in autosomal recessive and sporadic spastic paraplegia