BCS1L‐Associated Disease: 5′‐UTR Variant Shifts the Phenotype Towards Axonal Neuropathy
ABSTRACT Objectives To investigate the consequences of a pathogenic missense variant (c.838C>T; p.L280F) and a 5′‐UTR regulatory variant (c.‐122G>T) in BCS1L on disease pathogenesis and to understand how regulatory variants influence disease severity and clinical presentation.
Rotem Orbach+11 more
wiley +1 more source
Electron and Hole Doping Effects on the Magnetic Properties and Band Gap Energy of Ba<sub>2</sub>FeMoO<sub>6</sub> and Sr<sub>2</sub>FeMoO<sub>6</sub>. [PDF]
Apostolov AT+2 more
europepmc +1 more source
ABSTRACT Background Bladder dysfunction affects over 85% of people with multiple sclerosis (PwMS), yet current assessment methods are limited to periodic in‐clinic evaluations or subjective patient reports, failing to capture real‐world symptom fluctuations.
Valerie J. Block+8 more
wiley +1 more source
A planar pentacoordinate oxygen in the experimentally observed [Be<sub>5</sub>O<sub>6</sub>]<sup>2-</sup> dianion. [PDF]
Sun R+5 more
europepmc +1 more source
Digital Activity Markers in Chronic Inflammatory Demyelinating Polyneuropathy
ABSTRACT Objective To evaluate the utility of smartwatch and smartphone‐based activity metrics for assessing disease severity and quality of life in patients with chronic inflammatory demyelinating polyneuropathy (CIDP). Methods In the electronic monitoring of disease activity in patients with CIDP (EMDA‐CIDP) trial, we performed a prospective ...
Lars Masanneck+15 more
wiley +1 more source
Application of pseudo-parameter iteration method to nonlinear deflection analysis of an infinite beam with variable beam cross-sections on a nonlinear elastic foundation. [PDF]
Lee C, Hwang YG, Jang TS.
europepmc +1 more source
The Road Not Taken: Misclassifying an Anti‐Seizure Medication as a Failure
ABSTRACT Objective To quantify how often anti‐seizure medications (ASMs) appear ineffective yet provide benefit when considering seizure frequency (SF) variability. Methods We used the CHOCOLATES seizure diary simulator to generate 100,000 patient seizure diaries that reflect natural SF variation in a heterogeneous population.
Christopher N. Henry+1 more
wiley +1 more source
Metabolic Consequences of Rheumatoid Arthritis
Patients with rheumatoid arthritis (RA) may have metabolic disruption, which can contribute to adverse long‐term outcomes, for multiple reasons. Patients with RA appear to have a higher risk of sarcopenia, type 1 and type 2 diabetes mellitus, metabolic syndrome, and hypertension. Systemic inflammation in RA can cause a “lipid paradox,” with reduced low‐
Stevie Barry+2 more
wiley +1 more source
Charge transport through the multiple end zigzag edge states of armchair graphene nanoribbons and heterojunctions. [PDF]
Kuo DMT.
europepmc +1 more source