Pharmacogenomics of Dementia: Personalizing the treatment of cognitive and neuropsychiatric symptoms

B Vuic, T Milos, L Tudor, M Nikolac Perkovic… - Genes, 2023 - mdpi.com
Dementia is a syndrome of global and progressive deterioration of cognitive skills,
especially memory, learning, abstract thinking, and orientation, usually affecting the elderly …

Under-Diagnosis of Dementia with Lewy Bodies in Individuals Racialized as Black: Hypotheses Regarding Potential Contributors

MJ Armstrong, LL Barnes - Journal of Alzheimer's Disease, 2024 - content.iospress.com
Dementia with Lewy bodies (DLB) is one of the most common degenerative dementias after
Alzheimer's disease (AD) dementia. DLB is under-diagnosed across populations but may be …

The rate and spectrum of new mutations in mice inferred by long-read sequencing

E López-Cortegano, J Chebib, A Jonas… - Genome …, 2025 - genome.cshlp.org
All forms of genetic variation originate from new mutations, making it crucial to understand
their rates and mechanisms. Here, we use long-read sequencing from Pacific Biosciences …

APOE-ε4 and BIN1 increase risk of Alzheimer's disease pathology but not specifically of Lewy body pathology

S Talyansky, Y Le Guen, N Kasireddy… - Acta Neuropathologica …, 2023 - Springer
Lewy body (LB) pathology commonly occurs in individuals with Alzheimer's disease (AD)
pathology. However, it remains unclear which genetic risk factors underlie AD pathology, LB …

Defining a tandem repeat catalog and variation clusters for genome-wide analyses and population databases

B Weisburd, E Dolzhenko, MF Bennett, MC Danzi… - bioRxiv, 2024 - biorxiv.org
Tandem repeat (TR) catalogs are important components of repeat genoty** studies as
they define the genomic coordinates and expected motifs of all TR loci being analyzed. In …

SuPreMo: a computational tool for streamlining in silico perturbation using sequence-based predictive models

K Gjoni, KS Pollard - Bioinformatics, 2024 - academic.oup.com
The increasing development of sequence-based machine learning models has raised the
demand for manipulating sequences for this application. However, existing approaches to …

The Role of Structural Variants in the Genetic Architecture of Parkinson's Disease

A Miano-Burkhardt, P Alvarez Jerez, K Daida… - International Journal of …, 2024 - mdpi.com
Parkinson's disease (PD) significantly impacts millions of individuals worldwide. Although
our understanding of the genetic foundations of PD has advanced, a substantial portion of …

Mediation role of DNA methylation in association between handgrip strength and cognitive function in monozygotic twins

J Liu, W Wang, J Luo, H Duan, C Xu, X Tian… - Journal of Human …, 2024 - nature.com
Handgrip strength is a crucial indicator to monitor the change of cognitive function over time,
but its mechanism still needs to be further explored. We sampled 59 monozygotic twin pairs …

Differential methylation analysis in neuropathologically confirmed dementia with Lewy bodies

P Reho, S Saez-Atienzar, P Ruffo, S Solaiman… - Communications …, 2024 - nature.com
Dementia with Lewy bodies (DLB) is a common form of dementia in the elderly population.
We performed genome-wide DNA methylation map** of cerebellar tissue from …

Structural variants linked to Alzheimer's Disease and other common age-related clinical and neuropathologic traits

RA Vialle, K de Paiva Lopes, Y Li, B Ng… - medRxiv, 2024 - pmc.ncbi.nlm.nih.gov
Advances have led to a greater understanding of the genetics of Alzheimer's Disease (AD).
However, the gap between the predicted and observed genetic heritability estimates when …