Generalized Dystonia With Cervical Predominance in a Patient With a De Novo TCF20 Variant
ABSTRACT TCF20 has been implicated in developmental delay and intellectual disability, with dystonia reported less frequently. We describe a woman in her early twenties with childhood‐onset learning difficulties, progressive dysarthria, tremor, and generalized dystonia with marked cervical predominance, associated with a de novo TCF20 frameshift ...
Melisa Kilic +7 more
wiley +1 more source
Amino-Functionalized Ionic Liquid Phase Change Absorbents for Efficient CO<sub>2</sub> Capture. [PDF]
Yang J, Wu M, Yang Z, Tian M.
europepmc +1 more source
Investigation of Complement Activation and Cytokine Signatures in AQP4+ NMOSD, MOGAD, and MS
ABSTRACT Objective Aquaporin‐4‐IgG seropositive neuromyelitis optica spectrum disorder (AQP4+ NMOSD), myelin oligodendrocyte glycoprotein antibody‐associated disease (MOGAD), and multiple sclerosis (MS) are pathophysiologically distinct neuroinflammatory disorders. Complement activation is a major mechanism of injury in AQP4+ NMOSD, whereas its role in
Angeliki G. Filippatou +23 more
wiley +1 more source
Essential Oils from Seed-Depleted Infructescences of Industrial Hemp: Chemical Diversity and Biological Potential. [PDF]
Sugier P +10 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
Designing a Robust MEA-Based Post-Combustion Carbon Capture Process with Capture Rate Guarantees. [PDF]
Sherman JAF +3 more
europepmc +1 more source
Myostatin/Smad3 in Spinal Muscular Atrophy: Biomarkers of Disease Severity and Treatment Response
ABSTRACT Objective Given the role of Myostatin (MSTN) in muscle homeostasis and its modulation by current spinal muscular atrophy (SMA) therapies, we investigated serum MSTN and, for the first time, its downstream effector Smad3 as candidate non‐invasive biomarkers in SMA patients undergoing disease‐modifying therapies (DMTs).
Giorgia Riolo +11 more
wiley +1 more source
Arsenate immobilisation and mimetite formation on Pb-modified zeolite under variable aqueous chemistry. [PDF]
Stępień E +3 more
europepmc +1 more source
Acute Endocrine Alterations After Traumatic Brain Injury and 6‐Month Functional Outcome
ABSTRACT Objective Acute multi‐axis endocrine alterations after traumatic brain injury (TBI) remain incompletely characterized. This study aimed to examine their temporal patterns and explore their associations with 6‐month functional outcome and early inflammatory markers.
Biao Xu +9 more
wiley +1 more source

