Age‐Related Characteristics of SYT1‐Associated Neurodevelopmental Disorder
ABSTRACT Objectives We describe the clinical manifestations and developmental abilities of individuals with SYT1‐associated neurodevelopmental disorder (Baker‐Gordon syndrome) from infancy to adulthood. We further describe the neuroradiological and electrophysiological characteristics of the condition at different ages, and explore the associations ...
Sam G. Norwitz +3 more
wiley +1 more source
Variably Protease‐Sensitive Prionopathy: Two New Cases With Motor Neuron‐Dementia Syndrome
ABSTRACT We describe two patients with variably protease‐sensitive prionopathy (VPSPr) who developed progressive upper motor neuron symptoms, insomnia, behavioral and cognitive decline, compatible with primary lateral sclerosis associated with frontotemporal dementia (FTD).
María Elena Erro +10 more
wiley +1 more source
Impact of N-terminal domain on the sHSP Lo18 function. [PDF]
Bellanger T +6 more
europepmc +1 more source
Real‐World Performance of CSF Kappa Free Light Chains in the 2024 McDonald Criteria
ABSTRACT Objective Kappa free light chains (KFLCs) in the cerebrospinal fluid (CSF) have a similar performance to CSF‐restricted oligoclonal bands (OCB) for multiple sclerosis (MS) diagnosis. To help with implementation, we set out to resolve several remaining uncertainties: (1) performance in a real‐world cohort and the 2024 McDonald criteria; (2 ...
Maya M. Leibowitz +11 more
wiley +1 more source
Deep-Sea Genome Mining Reveals Cooperative ATP-Grasp Ligase-Directed Biosynthesis of Pentacyclic Myxomiditides with Potent Protease Inhibition. [PDF]
Li Y +5 more
europepmc +1 more source
ABSTRACT Objective Cognitive decline is a disabling and variable feature of Parkinson disease (PD). While cholinergic system degeneration is linked to cognitive impairments in PD, most prior research reported cross‐sectional associations. We aimed to fill this gap by investigating whether baseline regional cerebral vesicular acetylcholine transporter ...
Taylor Brown +6 more
wiley +1 more source
Collaborative optimization of computational offloading and resource allocation based on Stackelberg game. [PDF]
Li L +6 more
europepmc +1 more source
Hydroxychloroquine Associated With Lower Glomerular Filtration Rate Decline in Lupus Nephritis
Objective Hydroxychloroquine (HCQ) protects kidney function in lupus nephritis (LN) by preventing flares, yet some cohort studies show no significant benefit in kidney function with HCQ. Clarifying these conflicting findings by showing early and long‐term benefits of HCQ on kidney function preservation is critical.
Shivani Garg +9 more
wiley +1 more source
Detección del paciente paliativo con insuficiencia cardiaca aguda en urgencias
S. Iglesias López +3 more
doaj +1 more source
Atomistic Simulations of Individual Amphiphilic Carbosilane Dendrimers with -(OCH<sub>2</sub>CH<sub>2</sub>)<sub>n</sub>-OCH<sub>3</sub> Terminal Groups in Hydrophilic and Hydrophobic Environments and at Interfaces. [PDF]
Kurbatov AO +4 more
europepmc +1 more source

