ABSTRACT C‐truncating variants in the charged multivesicular body protein 2B (CHMP2B) gene are a rare cause of frontotemporal lobar degeneration (FTLD), previously identified only in Denmark, Belgium, and China. We report a novel CHMP2B splice‐site variant (c.35‐1G>A) associated with familial FTLD in Spain. The cases were two monozygotic male twins who
Sara Rubio‐Guerra+17 more
wiley +1 more source
Analysis of Water-Based Polyurethane Properties in the Ballistic Behavior of Ultra-High Molecular Weight Polyethylene Fiber Composites. [PDF]
Yang S+5 more
europepmc +1 more source
Universal Proteomic Signature After Exercise‐Induced Muscle Injury in Muscular Dystrophies
ABSTRACT Objective Several neuromuscular disorders (NMDs) are characterized by progressive muscle damage and are marked by the elevation of circulating muscle proteins from activity‐related injury. Despite a diverse array of genetic drivers, many NMDs share similar patterns of exercise intolerance and higher concentrations of muscle injury proteins ...
Mads G. Stemmerik+5 more
wiley +1 more source
Prevention of Muscle Atrophy by Low-Molecular-Weight Fraction from Hirsutella sinensis Mycelium. [PDF]
Chen YW+6 more
europepmc +1 more source
Epitope Mapping of Anti‐Neurofascin 155 Antibody in a Large Cohort of Autoimmune Nodopathy Patients
ABSTRACT Objective Autoimmune nodopathy (AN), a newly recognized disease entity, is an immune‐mediated polyneuropathy involving autoantibodies against cell adhesion molecules located in nodes of Ranvier and paranodal regions, such as neurofascin 186 (NF186) and neurofascin 155 (NF155). The present study aimed to identify the epitopes for autoantibodies
Amina A. Abdelhadi+6 more
wiley +1 more source
Surface Modification of Ultra-High-Molecular-Weight Polyethylene and Applications: A Review. [PDF]
He J+5 more
europepmc +1 more source
A PANoptosis‐Based Signature for Survival and Immune Predication in Glioblastoma Multiforme
ABSTRACT Objective PANoptosis is a concept of total cell death characterized by pyroptosis, apoptosis, and necroptosis. We aimed to explore the clinical significance of PANoptosis‐related genes (PARGs) in glioblastoma multiforme (GBM). Methods Expression profiles of GBM were downloaded from the XENA database as a training dataset to construct a ...
Jun Yang+4 more
wiley +1 more source
Evaluating the efficacy of low-molecular-weight heparin in managing umbilical artery thrombosis during pregnancy: does it offer therapeutic benefits? [PDF]
Zhao P+5 more
europepmc +1 more source
The Molecular Weights of Protamines by means of Diffusion and Viscosity Measurements.
Koujirou Iso+2 more
openalex +2 more sources