Area of research
Genetics · Physiology
Research interest
Research interests include Glioma Diagnosis and Treatment, Alzheimer's disease research and treatments, Parkinson's Disease Mechanisms and Treatments, and Epilepsy research and treatment.
Digenic inheritance involving a muscle-specific protein kinase and the giant titin protein causes a skeletal muscle myopathy
MAPT H2 haplotype and risk of Pick's disease in the Pick's disease International Consortium: a genetic association study
Mapping myelin in white matter with T1-weighted/T2-weighted maps: discrepancy with histology and other myelin MRI measures
Making sense of missense variants in TTN-related congenital myopathies
Seizure outcome and use of antiepileptic drugs after epilepsy surgery according to histopathological diagnosis: a retrospective multicentre cohort study
The Neuropathological Diagnosis of Alzheimer’s Disease—The Challenges of Pathological Mimics and Concomitant Pathology
<scp><i>RBCK1</i></scp>‐related disease: A rare multisystem disorder with polyglucosan storage, auto‐inflammation, recurrent infections, skeletal, and cardiac myopathy—Four additional patients and a review of the current literature
Desmoplastic myxoid tumor, SMARCB1-mutant: clinical, histopathological and molecular characterization of a pineal region tumor encountered in adolescents and adults
Comparison of clinical and neuropathological diagnoses of neurodegenerative diseases in two centres from the Brains for Dementia Research (BDR) cohort
The histopathological spectrum of malignant hyperthermia and rhabdomyolysis due to RYR1 mutations
<i>EPG5</i> -related Vici syndrome: a paradigm of neurodevelopmental disorders with defective autophagy
Aging-related tau astrogliopathy (ARTAG): harmonized evaluation strategy
Sensory, psychological, and metabolic dysfunction in HIV-associated peripheral neuropathy: A cross-sectional deep profiling study
Prognostic value of intracranial seizure onset patterns for surgical outcome of the treatment of epilepsy
Two cases of multinodular and vacuolating neuronal tumour
Neuropathological assessments of the pathology in frontotemporal lobar degeneration with TDP43-positive inclusions: an inter-laboratory study by the BrainNet Europe consortium
Prostate-derived Sterile 20-like Kinases (PSKs/TAOKs) Phosphorylate Tau Protein and Are Activated in Tangle-bearing Neurons in Alzheimer Disease
Novel Mutations Mapping to the Fourth Sodium Channel Domain of Nav1.7 Result in Variable Clinical Manifestations of Primary Erythromelalgia
MR Diffusion Histology and Micro-Tractography Reveal Mesoscale Features of the Human Cerebellum
Recessive mutations in EPG5 cause Vici syndrome, a multisystem disorder with defective autophagy
Neuropathology of the hippocampus in FTLD‐Tau with Pick bodies: a study of the BrainNet Europe Consortium
Comment on “The Geometric Structure of the Brain Fiber Pathways”
The need to unify neuropathological assessments of vascular alterations in the ageing brain