Results 221 to 230 of about 7,982,325 (356)

Relationship of cognitive decline with glucocerebrosidase activity and amyloid‐beta 42 in DLB and PD

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
Abstract Objective Dementia with Lewy bodies (DLB) and Parkinson's disease (PD) share clinical, pathological, and genetic risk factors, including GBA1 and APOEε4 mutations. Biomarkers associated with the pathways of these mutations, such as glucocerebrosidase enzyme (GCase) activity and amyloid‐beta 42 (Aβ42) levels, may hold potential as predictive ...
Maria Camila Gonzalez   +15 more
wiley   +1 more source

How short peptides interact with oral cells? A systematic review. [PDF]

open access: yesBMC Oral Health
Tetè G   +5 more
europepmc   +1 more source

Heterozygous variants in AP4S1 are not associated with a neurological phenotype

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
Abstract Biallelic loss‐of‐function variants in AP4S1 cause childhood‐onset hereditary spastic paraplegia. A recent report suggested that heterozygous AP4S1 variants lead to a syndrome of lower limb spasticity and dysregulation of sphincter function. We critically evaluate this claim against clinical observations in 28 heterozygous carriers of the same
Vicente Quiroz   +9 more
wiley   +1 more source

Novel Phenotypes and Deep Intronic Variant Expand TH‐Associated Dopa‐Responsive Dystonia Spectrum

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Approximately 20% of dopa‐responsive dystonia (DRD) cases remain genetically unresolved. Using whole‐genome sequencing, we identified two TH variants in a young DRD patient, including a novel deep intronic variant. Minigene assays confirmed that this variant causes aberrant splicing.
Xiaosheng Zheng   +6 more
wiley   +1 more source

Home - About - Disclaimer - Privacy