Lianne M. Reus
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View article: Integrative analysis of cerebrospinal fluid biomarkers, metabolomics, and polygenic risk reveals novel metabolite associations with Alzheimer's disease
Integrative analysis of cerebrospinal fluid biomarkers, metabolomics, and polygenic risk reveals novel metabolite associations with Alzheimer's disease Open
Background Cerebrospinal fluid (CSF) metabolomics offers an opportunity to investigate in vivo biological pathways impacted in the human brain by Alzheimer's disease (AD). While impairments in brain glucose metabolism and lipid homeostasis…
View article: Genetic predisposition for developmental dyslexia in semantic variant primary progressive aphasia
Genetic predisposition for developmental dyslexia in semantic variant primary progressive aphasia Open
Importance Mechanisms behind the asymmetric left-hemispheric atrophy observed in primary progressive aphasia (PPA), a neurodegenerative disorder related to either frontotemporal lobar degeneration or Alzheimer’s disease, remains a mystery.…
View article: Accurate DNA methylation predictor for C9orf72 repeat expansion alleles in the pathogenic range
Accurate DNA methylation predictor for C9orf72 repeat expansion alleles in the pathogenic range Open
View article: Did you miss me? Making the most of digital phenotyping data by imputing missingness with point process models
Did you miss me? Making the most of digital phenotyping data by imputing missingness with point process models Open
Background Digital phenotyping has broad clinical potential, providing low-burden objective measures of behavior as individuals go about their day. However, progress in making clinical inferences from these data is severely challenged by t…
View article: Uncovering Social States in Healthy and Clinical Populations Using Digital Phenotyping and Hidden Markov Models: Observational Study
Uncovering Social States in Healthy and Clinical Populations Using Digital Phenotyping and Hidden Markov Models: Observational Study Open
Background Brain-related disorders are characterized by observable behavioral symptoms, for example, social withdrawal. Smartphones can passively collect behavioral data reflecting digital activities such as communication app usage and cal…
View article: Local patterns of genetic sharing between neuropsychiatric and insulin resistance-related conditions
Local patterns of genetic sharing between neuropsychiatric and insulin resistance-related conditions Open
View article: <scp><i>UNC13A</i></scp> Polymorphism Influences Survival in Patients with Frontotemporal Dementia
<span><i>UNC13A</i></span> Polymorphism Influences Survival in Patients with Frontotemporal Dementia Open
UNC13A (rs12608932‐CC) is associated with both amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD), and shortens survival in ALS. We aim to describe the association for UNC13A and survival in FTD. We included 626 patients…
View article: Accurate DNA Methylation Predictor for <i>C9orf72</i> Repeat Expansion Alleles in the Pathogenic Range
Accurate DNA Methylation Predictor for <i>C9orf72</i> Repeat Expansion Alleles in the Pathogenic Range Open
The hexanucleotide (G 4 C 2 ) repeat expansion in the promoter region of C9orf72 is the most frequent genetic cause of frontotemporal dementia (FTD) and amyotrophic lateral sclerosis (ALS). In this study, we conducted a genome-wide DNA met…
View article: Identification of Novel Candidate Loci for Alzheimer's Disease by Leveraging the Shared Genetic Basis with Hippocampal Volume
Identification of Novel Candidate Loci for Alzheimer's Disease by Leveraging the Shared Genetic Basis with Hippocampal Volume Open
View article: Identification of Novel Candidate Loci for Alzheimer's Disease by Leveraging the Shared Genetic Basis with Hippocampal Volume
Identification of Novel Candidate Loci for Alzheimer's Disease by Leveraging the Shared Genetic Basis with Hippocampal Volume Open
View article: Uncovering Social States in Healthy and Clinical Populations Using Digital Phenotyping and Hidden Markov Models: Observational Study (Preprint)
Uncovering Social States in Healthy and Clinical Populations Using Digital Phenotyping and Hidden Markov Models: Observational Study (Preprint) Open
BACKGROUND Brain-related disorders are characterized by observable behavioral symptoms, for example, social withdrawal. Smartphones can passively collect behavioral data reflecting digital activities such as communication app usage and ca…
View article: CSF proteomic profiles of neurodegeneration biomarkers in Alzheimer's disease
CSF proteomic profiles of neurodegeneration biomarkers in Alzheimer's disease Open
INTRODUCTION We aimed to unravel the underlying pathophysiology of the neurodegeneration (N) markers neurogranin (Ng), neurofilament light (NfL), and hippocampal volume (HCV), in Alzheimer's disease (AD) using cerebrospinal fluid (CSF) pro…
View article: Genome-wide analyses reveal a potential role for the MAPT, MOBP, and APOE loci in sporadic frontotemporal dementia
Genome-wide analyses reveal a potential role for the MAPT, MOBP, and APOE loci in sporadic frontotemporal dementia Open
View article: Uncovering Social States in Healthy and Clinical Populations Using Digital Phenotyping and Hidden Markov Models: Observational Study
Uncovering Social States in Healthy and Clinical Populations Using Digital Phenotyping and Hidden Markov Models: Observational Study Open
Background Brain related disorders are characterized by observable behavioral symptoms, for example social withdrawal. Smartphones can passively collect behavioral data reflecting digital activities, such as communication app usage and cal…
View article: Connecting dementia risk loci to the CSF proteome identifies pathophysiological leads for dementia
Connecting dementia risk loci to the CSF proteome identifies pathophysiological leads for dementia Open
Genome-wide association studies have successfully identified many genetic risk loci for dementia, but exact biological mechanisms through which genetic risk factors contribute to dementia remains unclear. Integrating CSF proteomic data wit…
View article: Local patterns of genetic sharing challenge the boundaries between neuropsychiatric and insulin resistance-related conditions
Local patterns of genetic sharing challenge the boundaries between neuropsychiatric and insulin resistance-related conditions Open
The co-occurrence of insulin resistance (IR)-related metabolic conditions with neuropsychiatric disorders is a complex public health challenge. Evidence of the genetic links between these phenotypes is emerging, but little is currently kno…
View article: Automated FreeSurfer segmentation and visual quality control in 10,000 MRI scans from a large memory clinic cohort
Automated FreeSurfer segmentation and visual quality control in 10,000 MRI scans from a large memory clinic cohort Open
Background Automated image segmentation methods together with increasing computer power allow quantifying brain alterations in great detail in large neuroimaging datasets. The increasing size of data complicates visual quality control (QC)…
View article: Dissecting the shared genetic basis of Alzheimer’s disease and hippocampal volumes
Dissecting the shared genetic basis of Alzheimer’s disease and hippocampal volumes Open
Background Hippocampal atrophy is an important pathophysiological event in Alzheimer’s disease (AD) etiopathology. Still the mechanistic link between these volumetric abnormalities and AD remains poorly understood. In this study, we estima…
View article: Data‐driven analysis of most common neurodegenerative dementias reveals atrophy patterns associated with overlapping cognitive symptoms
Data‐driven analysis of most common neurodegenerative dementias reveals atrophy patterns associated with overlapping cognitive symptoms Open
Background A precise understanding of the neuroanatomical basis of clinical manifestation of dementia is an important step for timely diagnosis. Dementia due to proteinopathies, such as Alzheimer’s disease (AD), dementia with Lewy bodies (…
View article: Cerebrospinal fluid metabolome‐wide association study of Alzheimer’s disease provides insight into molecular pathways
Cerebrospinal fluid metabolome‐wide association study of Alzheimer’s disease provides insight into molecular pathways Open
Background Many genetic risk variants have been identified for Alzheimer’s disease (AD), but their functional consequence on molecular pathways are unclear. Quantitative trait loci (QTL) studies help elucidate the functional effect of gene…
View article: Automated FreeSurfer segmentation and visual quality control in 10,000 MRI scans from a large memory clinic cohort
Automated FreeSurfer segmentation and visual quality control in 10,000 MRI scans from a large memory clinic cohort Open
Background Automated image segmentation methods together with increasing computer power allow quantifying brain alterations in great detail in large neuroimaging datasets. The increasing size of data complicates visual quality control (QC)…
View article: Quantitative trait loci mapping of circulating metabolites in cerebrospinal fluid to uncover biological mechanisms involved in brain-related phenotypes
Quantitative trait loci mapping of circulating metabolites in cerebrospinal fluid to uncover biological mechanisms involved in brain-related phenotypes Open
Genomic studies of molecular traits have provided mechanistic insights into complex disease, though these lag behind for brain-related traits due to the inaccessibility of brain tissue. We leveraged cerebrospinal fluid (CSF) to study neuro…
View article: Identifying Protein Quantitative Trait Loci in the Cerebrospinal Fluid Proteome
Identifying Protein Quantitative Trait Loci in the Cerebrospinal Fluid Proteome Open
Background Genome‐wide association studies (GWAS) on dementia have successfully identified variants conferring risk to disease. Still, how such variants impact exact biological mechanisms underlying disease remains largely unclear. Protein…
View article: Polygenic Risk Associations with Clinical Characteristics and Recurrence of Dupuytren Disease
Polygenic Risk Associations with Clinical Characteristics and Recurrence of Dupuytren Disease Open
Background: Dupuytren disease (DD) is a common complex trait, with varying severity and incompletely understood cause. Genome-wide association studies (GWAS) have identified risk loci. In this article, we examine whether genetic risk profi…
View article: Large-scale cerebrospinal fluid proteomic analysis in Alzheimer’s disease patients reveals five molecular subtypes with distinct genetic risk profiles
Large-scale cerebrospinal fluid proteomic analysis in Alzheimer’s disease patients reveals five molecular subtypes with distinct genetic risk profiles Open
Alzheimer’s disease (AD) is heterogenous on the molecular level. Understanding this heterogeneity is critical for AD drug development. We aimed to define AD molecular subtypes by mass spectrometry proteomics in cerebrospinal fluid (CSF). O…
View article: Diagnostic Instability Over Time in the Late-Onset Frontal Lobe Syndrome: When Can We Say it's FTD?
Diagnostic Instability Over Time in the Late-Onset Frontal Lobe Syndrome: When Can We Say it's FTD? Open
View article: Social dysfunction relates to transdiagnostic shifts within socioaffective brain systems among neuropsychiatric disorders
Social dysfunction relates to transdiagnostic shifts within socioaffective brain systems among neuropsychiatric disorders Open
View article: Amyloid-β and APOE genotype predict memory decline in cognitively unimpaired older individuals independently of Alzheimer’s disease polygenic risk score
Amyloid-β and APOE genotype predict memory decline in cognitively unimpaired older individuals independently of Alzheimer’s disease polygenic risk score Open
View article: Shorter disease duration in females with sporadic frontotemporal dementia
Shorter disease duration in females with sporadic frontotemporal dementia Open
Background Previous reported sex differences on disease duration (DD) of frontotemporal dementia (FTD) have been inconsistent and lack the comparison between genetic and sporadic FTD. Our aim was to study the difference in disease duration…
View article: Post-GWAS multiomic functional investigation of the<i>TNIP1</i>locus in Alzheimer’s disease implicates mediation through<i>GPX3</i>
Post-GWAS multiomic functional investigation of the<i>TNIP1</i>locus in Alzheimer’s disease implicates mediation through<i>GPX3</i> Open
The recently reported TNIP1 / GPX3 locus from AD GWAS studies was investigated. Using proteomics and other functional omics data, we identified evidence for a functional mechanism linking variants in this locus to decreased CSF GPX3 levels…