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Article
Open AccessBrain age as a biomarker for pathological versus healthy ageing – a REMEMBER study
This study aimed to evaluate the potential clinical value of a new brain age prediction model as a single interpretable variable representing the condition of our brain. Among many clinical use cases, brain ag...
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Article
Open AccessTowards validation in clinical routine: a comparative analysis of visual MTA ratings versus the automated ratio between inferior lateral ventricle and hippocampal volumes in Alzheimer’s disease diagnosis
To assess the performance of the inferior lateral ventricle (ILV) to hippocampal (Hip) volume ratio on brain MRI, for Alzheimer’s disease (AD) diagnostics, comparing it to individual automated ILV and hippocam...
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Article
Open AccessSubclinical epileptiform activity in the Alzheimer continuum: association with disease, cognition and detection method
Epileptic seizures are an established comorbidity of Alzheimer’s disease (AD). Subclinical epileptiform activity (SEA) as detected by 24-h electroencephalography (EEG) or magneto-encephalography (MEG) has been...
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Article
Open AccessMutated Toll-like receptor 9 increases Alzheimer’s disease risk by compromising innate immunity protection
The development of Alzheimer’s disease (AD) involves central and peripheral immune deregulation. Gene identification and studies of AD genetic variants of peripheral immune components may aid understanding of ...
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Article
Open AccessCSF biomarker analysis of ABCA7 mutation carriers suggests altered APP processing and reduced inflammatory response
The Alzheimer’s disease (AD) risk gene ABCA7 has suggested functions in lipid metabolism and the immune system. Rare premature termination codon (PTC) mutations and an expansion of a variable number of tandem rep...
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Article
Open AccessMultivariate GWAS of Alzheimer’s disease CSF biomarker profiles implies GRIN2D in synaptic functioning
Genome-wide association studies (GWAS) of Alzheimer’s disease (AD) have identified several risk loci, but many remain unknown. Cerebrospinal fluid (CSF) biomarkers may aid in gene discovery and we previously d...
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Article
Open AccessCSF proteome profiling reveals biomarkers to discriminate dementia with Lewy bodies from Alzheimer´s disease
Diagnosis of dementia with Lewy bodies (DLB) is challenging and specific biofluid biomarkers are highly needed. We employed proximity extension-based assays to measure 665 proteins in the cerebrospinal fluid (...
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Article
Open AccessAuthor Correction: Common variants in Alzheimer’s disease and risk stratification by polygenic risk scores
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Article
Open AccessGenome-wide meta-analysis for Alzheimer’s disease cerebrospinal fluid biomarkers
Amyloid-beta 42 (Aβ42) and phosphorylated tau (pTau) levels in cerebrospinal fluid (CSF) reflect core features of the pathogenesis of Alzheimer’s disease (AD) more directly than clinical diagnosis. Initiated b...
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Article
Open AccessLead-exposure associated miRNAs in humans and Alzheimer’s disease as potential biomarkers of the disease and disease processes
Alzheimer’s disease (AD) is a neurodegenerative disease that eventually affects memory and behavior. The identification of biomarkers based on risk factors for AD provides insight into the disease since the ex...
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Article
Open AccessCorrection: Cerebrospinal fluid tau levels are associated with abnormal neuronal plasticity markers in Alzheimer’s disease
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Article
Open AccessRare variants in IFFO1, DTNB, NLRC3 and SLC22A10 associate with Alzheimer’s disease CSF profile of neuronal injury and inflammation
Alzheimer’s disease (AD) biomarkers represent several neurodegenerative processes, such as synaptic dysfunction, neuronal inflammation and injury, as well as amyloid pathology. We performed an exome-wide rare ...
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Article
Open AccessNew insights into the genetic etiology of Alzheimer’s disease and related dementias
Characterization of the genetic landscape of Alzheimer’s disease (AD) and related dementias (ADD) provides a unique opportunity for a better understanding of the associated pathophysiological processes. We per...
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Article
Open AccessCerebrospinal fluid tau levels are associated with abnormal neuronal plasticity markers in Alzheimer’s disease
Increased total tau (t-tau) in cerebrospinal fluid (CSF) is a key characteristic of Alzheimer’s disease (AD) and is considered to result from neurodegeneration. T-tau levels, however, can be increased in very ...
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Article
Open AccessCommon variants in Alzheimer’s disease and risk stratification by polygenic risk scores
Genetic discoveries of Alzheimer’s disease are the drivers of our understanding, and together with polygenetic risk stratification can contribute towards planning of feasible and efficient preventive and curat...
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Article
Open AccessMelatonin levels in the Alzheimer’s disease continuum: a systematic review
The search for new Alzheimer’s disease (AD) cerebrospinal fluid (CSF) and blood biomarkers with potential pathophysiological and clinical relevance continues, as new biomarkers might lead to improved early and...
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Article
Open AccessContribution of rare homozygous and compound heterozygous VPS13C missense mutations to dementia with Lewy bodies and Parkinson’s disease
Dementia with Lewy bodies (DLB) and Parkinson’s disease (PD) are clinically, pathologically and etiologically disorders embedded in the Lewy body disease (LBD) continuum, characterized by neuronal α-synuclein ...
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Protocol
Lumbar Puncture: Consensus Guidelines
Cerebrospinal fluid collection by lumbar puncture (LP) is performed in the diagnostic workup of several neurological brain diseases. Reluctance to perform the procedure is among others due to a lack of standar...
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Diagnostic Evaluation of Dementia
Diagnosing dementia requires a multiprofessional approach using an array of investigative methods. A diagnosis of dementia and identification of the underlying cause, when possible, is essential for providing ...
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Article
Open AccessGenome-wide association study of Alzheimer’s disease CSF biomarkers in the EMIF-AD Multimodal Biomarker Discovery dataset
Alzheimer’s disease (AD) is the most prevalent neurodegenerative disorder and the most common form of dementia in the elderly. Susceptibility to AD is considerably determined by genetic factors which hitherto ...