Håkan Thonberg

Diagnostic yield of 1000 trio analyses with exome and genome sequencing in a clinical setting

Early neurotransmitters changes in prodromal frontotemporal dementia: A GENFI study

Structural MRI predicts clinical progression in presymptomatic genetic frontotemporal dementia: findings from the GENetic Frontotemporal dementia Initiative cohort

Prodromal language impairment in genetic frontotemporal dementia within the GENFI cohort

Differential impairment of cerebrospinal fluid synaptic biomarkers in the genetic forms of frontotemporal dementia

Neurodevelopmental effects of genetic frontotemporal dementia in young adult mutation carriers

Motor symptoms in genetic frontotemporal dementia: developing a new module for clinical rating scales

Cognitive composites for genetic frontotemporal dementia: GENFI-Cog

Language impairment in the genetic forms of behavioural variant frontotemporal dementia

Integration of whole genome sequencing into a healthcare setting: high diagnostic rates across multiple clinical entities in 3219 rare disease patients

Characterizing the Clinical Features and Atrophy Patterns of <i>MAPT</i> -Related Frontotemporal Dementia With Disease Progression Modeling

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

Cerebral perfusion changes in presymptomatic genetic frontotemporal dementia: a GENFI study

White matter hyperintensities in progranulin-associated frontotemporal dementia: A longitudinal GENFI study

Uncovering the heterogeneity and temporal complexity of neurodegenerative diseases with Subtype and Stage Inference

Spatiotemporal analysis for detection of pre-symptomatic shape changes in neurodegenerative diseases: Initial application to the GENFI cohort

Patterns of gray matter atrophy in genetic frontotemporal dementia: results from the GENFI study

White matter hyperintensities are seen only in GRN mutation carriers in the GENFI cohort

Deleterious ABCA7 mutations and transcript rescue mechanisms in early onset Alzheimer’s disease

Identification and description of three families with familial Alzheimer disease that segregate variants in the SORL1 gene

Cognitive reserve and TMEM106B genotype modulate brain damage in presymptomatic frontotemporal dementia: a GENFI study

Progranulin plasma levels predict the presence of GRN mutations in asymptomatic subjects and do not correlate with brain atrophy: results from the GENFI study

A comprehensive study of the genetic impact of rare variants in SORL1 in European early-onset Alzheimer’s disease

<i>TBK1</i> Mutation Spectrum in an Extended European Patient Cohort with Frontotemporal Dementia and Amyotrophic Lateral Sclerosis

P1‐025: Cerebral Perfusion as an Imaging Biomarker of Presymptomatic Genetic Frontotemporal Dementia: Preliminary Results from the Genetic Frontotemporal Dementia Initiative (GENFI)

Presymptomatic cognitive and neuroanatomical changes in genetic frontotemporal dementia in the Genetic Frontotemporal dementia Initiative (GENFI) study: a cross-sectional analysis

Rare mutations in SQSTM1 modify susceptibility to frontotemporal lobar degeneration