Area of research
Neurology · Cellular and Molecular Neuroscience
Research interest
Research interests include Amyotrophic Lateral Sclerosis Research, Genetic Neurodegenerative Diseases, Alzheimer's disease research and treatments, and Dementia and Cognitive Impairment Research.
Deciphering distinct genetic risk factors for FTLD-TDP pathological subtypes via whole-genome sequencing
Plasma extracellular vesicle tau and TDP-43 as diagnostic biomarkers in FTD and ALS
GAA-FGF14 disease: defining its frequency, molecular basis, and 4-aminopyridine response in a large downbeat nystagmus cohort
GAA-<i>FGF14</i> ataxia (SCA27B): phenotypic profile, natural history progression and 4-aminopyridine treatment response
Standards of NGS Data Sharing and Analysis in Ataxias: Recommendations by the NGS Working Group of the Ataxia Global Initiative
Plasma extracellular vesicle Tau isoform ratios and TDP-43 inform about molecular pathology in Frontotemporal Dementia and Amyotrophic Lateral Sclerosis
Deep Intronic <i>FGF14</i> GAA Repeat Expansion in Late-Onset Cerebellar Ataxia
Cognitive composites for genetic frontotemporal dementia: GENFI-Cog
Solve-RD: systematic pan-European data sharing and collaborative analysis to solve rare diseases
Characterizing the Clinical Features and Atrophy Patterns of <i>MAPT</i> -Related Frontotemporal Dementia With Disease Progression Modeling
A data-driven disease progression model of fluid biomarkers in genetic frontotemporal dementia
Stratifying the Presymptomatic Phase of Genetic Frontotemporal Dementia by Serum <scp>NfL</scp> and <scp>pNfH</scp>: A Longitudinal Multicentre Study
Solving unsolved rare neurological diseases—a Solve-RD viewpoint
Serum NfL in spinocerebellar ataxia type 1 is increased already at the preataxic stage, correlating with proximity to clinical onset
Correction to: Solve-RD: systematic pan-European data sharing and collaborative analysis to solve rare diseases
Correction: Solving unsolved rare neurological diseases—a Solve-RD viewpoint
Social cognition impairment in genetic frontotemporal dementia within the GENFI cohort
Age at symptom onset and death and disease duration in genetic frontotemporal dementia: an international retrospective cohort study
Serum neurofilament light chain in genetic frontotemporal dementia: a longitudinal, multicentre cohort study
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
White matter hyperintensities in progranulin-associated frontotemporal dementia: A longitudinal GENFI study
Potential genetic modifiers of disease risk and age at onset in patients with frontotemporal lobar degeneration and GRN mutations: a genome-wide association study
Beyond ALS and FTD: the phenotypic spectrum of TBK1 mutations includes PSP-like and cerebellar phenotypes