Search
Search Results
-
Exome sequence analysis of rare frequency variants in Late-Onset Alzheimer Disease
Alzheimer disease (AD) is a leading cause of dementia in elderly patients who continue to live between 3 and 11 years of diagnosis. A steep rise in...
-
Exome sequencing identifies rare damaging variants in ATP8B4 and ABCA1 as risk factors for Alzheimer’s disease
Alzheimer’s disease (AD), the leading cause of dementia, has an estimated heritability of approximately 70%
1 . The genetic component of AD has been...
-
AD Blank Spot Model for Evaluation of Alzheimer’s Disease
The discovery of biomarkers that confer high confidence of Alzheimer’s disease (AD) diagnosis and disease management would be a valuable tool to...
-
AD Blank Spot Model for Evaluation of Alzheimer’s Disease
The discovery of biomarkers that confer high confidence of Alzheimer’s disease (AD) diagnosis and disease management would be a valuable tool to...
-
Comprehensive genetic screening of early-onset dementia patients in an Austrian cohort-suggesting new disease-contributing genes
Early-onset dementia (EOD), with symptom onset before age 65, has a strong genetic burden. Due to genetic and clinical overlaps between different...
-
An overview of early-onset cerebellar ataxia: a practical guideline
Early onset ataxias (EOAs) are a heterogeneous group of rare neurological disorders that not only involve the central and peripheral nervous system...
-
Challenge accepted: uncovering the role of rare genetic variants in Alzheimer’s disease
The search for rare variants in Alzheimer’s disease (AD) is usually deemed a high-risk - high-reward situation. The challenges associated with this...
-
Gene Panel Sequencing Analysis Revealed a Strong Contribution of Rare Coding Variants to the Risk of Parkinson’s Disease in Sporadic Moroccan Patients
Parkinson’s disease (PD) is a neurodegenerative movement disorder which can be either familial or sporadic. While it is well known that monogenic...
-
Probability of Alzheimer’s disease based on common and rare genetic variants
BackgroundAlzheimer’s disease, among other neurodegenerative disorders, spans decades in individuals’ life and exhibits complex progression, symptoms...
-
A functional variant of SHARPIN confers increased risk of late-onset Alzheimer’s disease
Late-onset Alzheimer’s disease (LOAD) is the most common form of dementia, and its pathogenesis is multifactorial. We previously reported a rare...
-
Map** the genetic landscape of early-onset Alzheimer’s disease in a cohort of 36 families
BackgroundMany families with clinical early-onset Alzheimer’s disease (EOAD) remain genetically unexplained. A combination of genetic factors is not...
-
Human early-onset dementia caused by DAP12 deficiency reveals a unique signature of dysregulated microglia
The TREM2–DAP12 receptor complex sustains microglia functions. Heterozygous hypofunctional TREM2 variants impair microglia, accelerating late-onset...
-
Neurodegenerative changes in early- and late-onset cognitive impairment with and without brain amyloidosis
BackgroundA substantial number of patients clinically diagnosed with Alzheimer’s disease do not harbor amyloid pathology. We analyzed the presence...
-
A neurodegenerative disease landscape of rare mutations in Colombia due to founder effects
BackgroundThe Colombian population, as well as those in other Latin American regions, arose from a recent tri-continental admixture among Native...
-
Variants in the MS4A cluster interact with soluble TREM2 expression on biomarkers of neuropathology
Recent evidence suggests that Alzheimer’s disease (AD) genetic risk variants (rs1582763 and rs6591561) of the MS4A locus are genome-wide significant...
-
Rare missense mutations in ABCA7 might increase Alzheimer’s disease risk by plasma membrane exclusion
The adenosine triphosphate–binding cassette subfamily A member 7 gene ( ABCA7) is associated with Alzheimer’s disease (AD) in large genome-wide...
-
Iatrogenic Alzheimer’s disease in recipients of cadaveric pituitary-derived growth hormone
Alzheimer’s disease (AD) is characterized pathologically by amyloid-beta (Aβ) deposition in brain parenchyma and blood vessels (as cerebral amyloid...
-
Driving mosaicism: somatic variants in reference population databases and effect on variant interpretation in rare genetic disease
BackgroundGenetic variation databases provide invaluable information on the presence and frequency of genetic variants in the ‘untargeted’ human...
-
The genetic spectrum of a cohort of patients clinically diagnosed as Parkinson’s disease in mainland China
So far, over 20 causative genes of monogenic Parkinson’s disease (PD) have been identified. Some causative genes of non-parkinsonian entities may...
-
Novel autosomal dominant TMC1 variants linked to hearing loss: insight into protein-lipid interactions
BackgroundTMC1 , which encodes transmembrane channel-like protein 1, forms the mechanoelectrical transduction (MET) channel in auditory hair cells,...
