Epilepsy‐Associated Variants of a Single SCN1A Codon Exhibit Divergent Functional Properties
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Pathogenic variants in SCN1A, which encodes the voltage‐gated sodium channel NaV1.1, are associated with multiple epilepsy syndromes exhibiting a range of clinical severity. SCN1A variants are reported in different syndromes, including Dravet syndrome, which is associated with loss‐of‐function, whereas neonatal/infantile‐onset ...
Lanie N. Liebovitz +3 more
wiley +1 more source
OVH-guided planning for superior heart and lung sparing in breast cancer radiotherapy. [PDF]
J Appl Clin Med PhysLei H +5 more
europepmc +1 more source
Low Incidence of Relapses After Vaccination in Anti‐Aquaporin‐4 Antibody‐Positive NMOSD
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Patients with neuromyelitis optica spectrum disorder (NMOSD) may experience increased signs and symptoms of their underlying disease when vaccinated against meningococcal disease before receiving complement component 5 inhibitor therapies. This retrospective analysis indicated an overall low relapse incidence (mean [range], 3.3% [0.7%–10.6 ...
Sean J. Pittock +4 more
wiley +1 more source
Prevalence of teenage pregnancy and its associated factors among adolescent girls in Ghana. [PDF]
J Egypt Public Health AssocOsborne A +4 more
europepmc +1 more source
Quantifying the Impact of Ocrelizumab on Paramagnetic Rim Lesions in Multiple Sclerosis
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Paramagnetic rim lesions (PRLs) are a subset of chronic active multiple sclerosis (MS) lesions marked by iron‐laden microglia and macrophages. Ocrelizumab, a monoclonal antibody targeting CD20+ B cells, suppresses acute MS activity, but its effect on PRLs remains unclear. In a longitudinal study of 29 ocrelizumab‐treated patients with at least
Kimberly H. Markowitz +8 more
wiley +1 more source
Virtual planning in orthognathic surgery among Swedish maxillofacial surgeons: a retrospective register-based cohort study. [PDF]
Oral Maxillofac SurgSpändbåge M +3 more
europepmc +1 more source
Cracking the Code: Genotype–Phenotype Correlation Models in Sarcoglycanopathies
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Sarcoglycanopathies are among the most severe limb‐girdle muscular dystrophies (LGMD), though milder presentations have been described. These diseases are primarily caused by missense variants, but the limited predictability of their effect on protein maturation, complex formation, and transport has hindered reliable genotype ...
Leonela Luce +72 more
wiley +1 more source
Representing relations between individual contributions: when does joint action planning facilitate task performance? [PDF]
Psychol ResFriebe K, Sebanz N, Knoblich G.
europepmc +1 more source
Arthritis Care &Research, EarlyView.Objective This study aims to develop hip morphology‐based radiographic hip osteoarthritis (RHOA) risk prediction models and investigates the added predictive value of hip morphology measurements and the generalizability to different populations. Methods We combined data from nine prospective cohort studies participating in the Worldwide Collaboration ...
Myrthe A. van den Berg +26 more
wiley +1 more source
Arthritis Care &Research, Accepted Article.Objectives There is growing interest in evaluating new strategies to delay or prevent post‐traumatic osteoarthritis (PTOA) in individuals who have sustained anterior cruciate ligament (ACL) injury. This study sought to determine characteristics of potential treatments that are acceptable to patients with ACL injury.
Kevin Kennedy +9 more
wiley +1 more source