Developmental, Neuroanatomical and Cellular Expression of Genes Causing Dystonia
ABSTRACT Objective Dystonia is one of the most common movement disorders, with variants in multiple genes identified as causative. However, an understanding of which developmental stages, brain regions, and cell types are most relevant is crucial for developing relevant disease models and therapeutics.
Darren Cameron +5 more
wiley +1 more source
An Out‐of‐Place Etiology: Recognizing FMR1 Premutation in the Memory Clinic
ABSTRACT The FMR1 gene premutation (55–200 CGG repeats) is usually associated with a wide range of symptoms and phenotypes within the Fragile X‐tremor/ataxia syndrome (FXTAS), but may also manifest as predominant or isolated cognitive decline. We describe three male patients referred for progressive cognitive impairment and behavioral changes. Standard
Guido Greco +7 more
wiley +1 more source
Influence of Endurance Training, High-Intensity Interval Training, and Acute Exercise on Left Ventricular Mechanics: A Systematic Review. [PDF]
Sonaglioni A +3 more
europepmc +1 more source
Development and External Validation of a Genetic Risk Score for Pain in Rheumatoid Arthritis
Objective Several single‐nucleotide polymorphisms (SNPs) have been associated with chronic pain syndromes. Our objective was to determine whether genetic variants are associated with pain and disease activity in rheumatoid arthritis (RA). Methods Participants were included from two independent RA cohorts: FORWARD (National Databank for Rheumatic ...
Katie J. McMenamin +15 more
wiley +1 more source
Constitutive Model of Secondary Annealing Behavior of Cu-Cu Joints in Cu/SiO<sub>2</sub> Hybrid Bonding. [PDF]
Hao Y +7 more
europepmc +1 more source
Objective Systemic sclerosis (SSc) is a rare autoimmune disease characterized by tissue fibrosis, vasculopathy, and immune dysregulation. Our objectives were to quantify the overall and site‐specific cancer risks in patients with SSc compared to the general population, examine temporal trends in cancer incidence following SSc diagnosis, and explore ...
Jihyun Na +4 more
wiley +1 more source
Agile cyber defense: Enhancing digital substation resilience with SDN-based smart switching. [PDF]
Almotiri SH.
europepmc +1 more source
This review summarizes artificial intelligence (AI)‐supported nonpharmacological interventions for adults with chronic rheumatic diseases, detailing their components, purpose, and current evidence base. We searched Embase, PubMed, Cochrane, and Scopus databases for studies describing AI‐supported interventions for adults with chronic rheumatic diseases.
Nirali Shah +5 more
wiley +1 more source
Chronic Stress Segregates Mice into Distinct Behavioral Phenotypes Based on Glucocorticoid Sensitivity. [PDF]
Ritter P +3 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

