Area of research
Neurology · Physiology
Research interest
Research focused on Progressive supranuclear palsy and Genetics, with related work in Movement disorders, Neuroscience, Cohort. Notable publications include 'Clinical diagnosis of progressive supranuclear palsy: The movement disorder society criteria', 'Distribution patterns of tau pathology in progressive supranuclear palsy', and 'The phenotypic spectrum of progressive supranuclear palsy: A retrospective multicenter study of 100 definite cases'.
Deciphering distinct genetic risk factors for FTLD-TDP pathological subtypes via whole-genome sequencing
MAPT H2 haplotype and risk of Pick's disease in the Pick's disease International Consortium: a genetic association study
Bi-allelic variants in SNF8 cause a disease spectrum ranging from severe developmental and epileptic encephalopathy to syndromic optic atrophy
Mis-localization of endogenous TDP-43 leads to ALS-like early-stage metabolic dysfunction and progressive motor deficits
Association of Structural Forms of 17q21.31 with the Risk of Progressive Supranuclear Palsy and <i>MAPT</i> Sub-haplotypes
Long‐Duration Progressive Supranuclear Palsy: Clinical Course and Pathological Underpinnings
Alpha-Synuclein defects autophagy by impairing SNAP29-mediated autophagosome-lysosome fusion
Distribution patterns of tau pathology in progressive supranuclear palsy
Genetic determinants of survival in progressive supranuclear palsy: a genome-wide association study
Copathology in Progressive Supranuclear Palsy: Does It Matter?
Clinical Conditions “Suggestive of Progressive Supranuclear Palsy”—Diagnostic Performance
An 8‐Year‐Old Girl with Posterior Fossa Mass
How to apply the movement disorder society criteria for diagnosis of progressive supranuclear palsy
Genome-wide analyses as part of the international FTLD-TDP whole-genome sequencing consortium reveals novel disease risk factors and increases support for immune dysfunction in FTLD
Validation of the Movement Disorder Society Criteria for the Diagnosis of 4‐Repeat Tauopathies
DNA methylation analysis on purified neurons and glia dissects age and Alzheimer’s disease-specific changes in the human cortex
Clinical diagnosis of progressive supranuclear palsy: The movement disorder society criteria
Which ante mortem clinical features predict progressive supranuclear palsy pathology?
Genome-wide association study in essential tremor identifies three new loci
BrainNet Europe’s Code of Conduct for brain banking
The phenotypic spectrum of progressive supranuclear palsy: A retrospective multicenter study of 100 definite cases
Neuropathological assessments of the pathology in frontotemporal lobar degeneration with TDP43-positive inclusions: an inter-laboratory study by the BrainNet Europe consortium
A Pan‐<scp>E</scp>uropean Study of the<i>C9orf72</i>Repeat Associated with<scp>FTLD</scp>: Geographic Prevalence, Genomic Instability, and Intermediate Repeats
Somatic mitochondrial DNA mutations in early parkinson and incidental lewy body disease
Neuropathology of the hippocampus in FTLD‐Tau with Pick bodies: a study of the BrainNet Europe Consortium