Juvenile Huntington Disease With Cerebellar‐Predominant Atrophy Identified by Genome Sequencing
ABSTRACT Juvenile Huntington disease accounts for a small fraction of Huntington disease cases and is driven by the largest trinucleotide repeat expansions. We describe a 6‐year‐old boy with progressive global regression, generalized dystonia, and epilepsy, in whom serial imaging showed striking cerebellar‐predominant atrophy with an initially normal ...
Enrique Gonzalez Saez‐Diez +5 more
wiley +1 more source
How Deep Is Your Mud? Pinpointing Hidden Transitions in Restored Saltmarsh Sediments to Support Robust Assessment of Carbon Stocks. [PDF]
Sparkes RB +9 more
europepmc +1 more source
The Association of Amyloid‐β and Tau With Synaptic Dysfunction in Alzheimer's Disease
ABSTRACT Objective To clarify the relative contributions of amyloid and tau to synaptic dysfunction in Alzheimer's disease (AD). Methods We included 109 cognitively unimpaired and impaired individuals from the Geneva Memory Center with available CSF synaptic biomarkers (neurogranin, SNAP‐25, GAP‐43). Participants were stratified according to amyloid (A)
Fausto Roveta +11 more
wiley +1 more source
Recovery of a New England salt marsh six years after a natural sediment deposition event. [PDF]
Moore GE +4 more
europepmc +1 more source
ABSTRACT Objective Sleep disturbances have been implicated as a risk factor for developing Alzheimer's disease (AD), but evidence linking plasma AD biomarkers to sleep in cognitively unimpaired individuals remains limited. The present study examined associations between evening, morning, and overnight changes in plasma AD biomarkers and measures of ...
Cornelia Sauter +5 more
wiley +1 more source
Polymeric Kinetic Hydrate Inhibitors in NaCl Brine-Sediment Media: Hydrate Performance, Rheological Structuring, and Interfacial Responses. [PDF]
Zhong GL +7 more
europepmc +1 more source
Systemic sclerosis (SSc) is a rare autoimmune disease defined by immune dysregulation, vasculopathy, and progressive fibrosis of the skin and internal organs. Despite advances in care, major complications such as interstitial lung disease (ILD) and myocardial involvement remain the leading causes of morbidity and mortality.
Cristiana Sieiro Santos +2 more
wiley +1 more source
Using GIS, remote-sensing and linear modeling to prioritize spatially explicit action against erosion and sediment transport within Lake Victoria watershed in Kenya. [PDF]
Otieno NE.
europepmc +1 more source
White Feces Syndrome is closely linked to impaired antioxidant capacity, the aquaculture environment, and microbial dysbiosis in Litopenaeus vannamei reared in small-pond culture system. [PDF]
Wang Z +7 more
europepmc +1 more source
Objective JAK inhibitors (JAKi) have shown promising effects in early‐phase studies of systemic sclerosis (SSc). We aimed to assess the safety and explore the effectiveness of JAKi compared to conventional immunosuppressants in SSc. Methods A longitudinal retrospective study of the European Scleroderma Trials and Research Group (EUSTAR) cohort was ...
Stefano Di Donato +27 more
wiley +1 more source

