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Open AccessCorrection: Implementation of genomic medicine for rare disease in a tertiary healthcare system: Mayo Clinic Program for Rare and Undiagnosed Diseases (PRaUD)
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Article
Open AccessInfluences of amyloid-β and tau on white matter neurite alterations in dementia with Lewy bodies
Dementia with Lewy bodies (DLB) is a neurodegenerative condition often co-occurring with Alzheimer’s disease (AD) pathology. Characterizing white matter tissue microstructure using Neurite Orientation Dispersi...
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Article
Role of GBA variants in Lewy body disease neuropathology
Rare and common GBA variants are risk factors for both Parkinson’s disease (PD) and dementia with Lewy bodies (DLB). However, the degree to which GBA variants are associated with neuropathological features in Lew...
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Article
Open AccessAnti-amyloid therapies for Alzheimer disease: finally, good news for patients
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Open AccessImplementation of genomic medicine for rare disease in a tertiary healthcare system: Mayo Clinic Program for Rare and Undiagnosed Diseases (PRaUD)
In the United States, rare disease (RD) is defined as a condition that affects fewer than 200,000 individuals. Collectively, RD affects an estimated 30 million Americans. A significant portion of RD has an und...
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Article
Open AccessLarge multi-ethnic genetic analyses of amyloid imaging identify new genes for Alzheimer disease
Amyloid PET imaging has been crucial for detecting the accumulation of amyloid beta (Aβ) deposits in the brain and to study Alzheimer’s disease (AD). We performed a genome-wide association study on the largest...
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Temporal order of clinical and biomarker changes in familial frontotemporal dementia
Unlike familial Alzheimer’s disease, we have been unable to accurately predict symptom onset in presymptomatic familial frontotemporal dementia (f-FTD) mutation carriers, which is a major hurdle to designing d...
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Article
Three cases of Creutzfeldt–Jakob disease presenting with a predominant dysexecutive syndrome
Creutzfeldt–Jakob disease (CJD) is a rare, uniformly fatal prion disease. Although CJD commonly presents with rapidly progressive dementia, ataxia, and myoclonus, substantial clinicopathological heterogeneity ...
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Open AccessMitochondrial genomic variation in dementia with Lewy bodies: association with disease risk and neuropathological measures
Dementia with Lewy bodies (DLB) is clinically diagnosed when patients develop dementia less than a year after parkinsonism onset. Age is the primary risk factor for DLB and mitochondrial health influences agei...
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Tau polygenic risk scoring: a cost-effective aid for prognostic counseling in Alzheimer’s disease
Tau deposition is one of two hallmark features of biologically defined Alzheimer’s disease (AD) and is more closely related to cognitive decline than amyloidosis. Further, not all amyloid-positive individuals ...
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Open AccessWhite matter damage due to vascular, tau, and TDP-43 pathologies and its relevance to cognition
Multi-compartment modelling of white matter microstructure using Neurite Orientation Dispersion and Density Imaging (NODDI) can provide information on white matter health through neurite density index and free...
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Open AccessCo** with brain amyloid: genetic heterogeneity and cognitive resilience to Alzheimer’s pathophysiology
Although abnormal accumulation of amyloid in the brain is an early biomarker of Alzheimer’s disease (AD), wide variation in cognitive trajectories during life can be seen in the setting of brain amyloidosis, r...
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Open AccessPredicting Short-term MCI-to-AD Progression Using Imaging, CSF, Genetic Factors, Cognitive Resilience, and Demographics
In the Alzheimer’s disease (AD) continuum, the prodromal state of mild cognitive impairment (MCI) precedes AD dementia and identifying MCI individuals at risk of progression is important for clinical managemen...
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Open AccessGenetic analysis of quantitative phenotypes in AD and MCI: imaging, cognition and biomarkers
The Genetics Core of the Alzheimer’s Disease Neuroimaging Initiative (ADNI), formally established in 2009, aims to provide resources and facilitate research related to genetic predictors of multidimensional Al...
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Gene-based GWAS and biological pathway analysis of the resilience of executive functioning
Resilience in executive functioning (EF) is characterized by high EF measured by neuropsychological test performance despite structural brain damage from neurodegenerative conditions. We previously reported si...
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Genome-wide pathway analysis of memory impairment in the Alzheimer’s Disease Neuroimaging Initiative (ADNI) cohort implicates gene candidates, canonical pathways, and networks
Memory deficits are prominent features of mild cognitive impairment (MCI) and Alzheimer’s disease (AD). The genetic architecture underlying these memory deficits likely involves the combined effects of multipl...
