Results 251 to 260 of about 1,609,811 (321)

A Novel CHMP2B Splicing Variant in Atypical Presentation of Familial Frontotemporal Lobar Degeneration

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
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

Universal Proteomic Signature After Exercise‐Induced Muscle Injury in Muscular Dystrophies

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
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]

open access: yesCurr Issues Mol Biol
Chen YW   +6 more
europepmc   +1 more source

Epitope Mapping of Anti‐Neurofascin 155 Antibody in a Large Cohort of Autoimmune Nodopathy Patients

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
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

A PANoptosis‐Based Signature for Survival and Immune Predication in Glioblastoma Multiforme

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
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

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