Chronological and Spatial Distribution of Skeletal Muscle Fat Replacement in FHL1‐Related Myopathies
ABSTRACT Objectives Variants in the FHL1 gene cause FHL1‐related myopathies (FHL1‐RMs), a group of neuromuscular disorders with diverse clinical presentations. This study aimed to comprehensively characterize the spatial and temporal patterns of skeletal muscle fat replacement throughout the whole body in FHL1‐RMs, to examine disease progression over ...
Rui Shimazaki +8 more
wiley +1 more source
Xarxes semàntiques en el lèxic disponible de València. Una aproximació al lexicó bilingüe
This work deals with the situation of languages in contact and explores the nature of bilingual lexicon by studying lexical availability. Based on the results published in 2010 in Lèxic disponible de València, and in relation to ‘town’ as the center of ...
M-Begoña Gómez-Devís +1 more
doaj
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
The Experience of Spanish Cancer Patients and Professionals With Quality of Life Assessment in Clinical Practice. [PDF]
Arraras JI +8 more
europepmc +1 more source
Functional Connectivity Linked to Cognitive Recovery After Minor Stroke
ABSTRACT Objective Patients with minor stroke exhibit slowed processing speed and generalized alterations in functional connectivity involving frontoparietal cortex (FPC). The pattern of connectivity evolves over time. In this study, we examine the relationship of functional connectivity patterns to cognitive performance, to determine ...
Vrishab Commuri +7 more
wiley +1 more source
Making sense of PROM outcomes: a mixed method study to optimize graphical visualization formats for children. [PDF]
Limmen S +8 more
europepmc +1 more source
ABSTRACT Background Myasthenia gravis (MG) is an autoimmune disorder characterized by antibody‐mediated complement activation. Efgartigimod, a neonatal Fc receptor (FcRn) antagonist, is approved for treating generalized MG (gMG). However, its modulatory effects on upstream innate and adaptive immune cells remain largely unexplored.
Lei Jin +11 more
wiley +1 more source
DNA-PK interacts with cyclic dinucleotides and inhibits type I interferon responses. [PDF]
Vila IK +29 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
The Pictorial-Semantic-Task Framework for Understanding Graph Comprehension. [PDF]
Tsai EH, Hahn Y, Siegler RS.
europepmc +1 more source

