Results 321 to 330 of about 8,339,405 (403)

Fluid and Neuroimaging Biomarkers in Microgliopathy Colony‐Stimulating Factor‐1 Receptor‐Related Disorders

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective This study aims to identify both fluid and neuroimaging biomarkers for CSF1R‐RD that can inform the optimal timing of treatment administration to maximize therapeutic benefit, while also providing sensitive quantitative measurements to monitor disease progression.
Tomasz Chmiela   +13 more
wiley   +1 more source

Gene editing and CRISPR-dependent homology-mediated end joining. [PDF]

open access: yesExp Mol Med
Ruis BL, Bielinsky AK, Hendrickson EA.
europepmc   +1 more source

Exploratory Analysis of ELP1 Expression in Whole Blood From Patients With Familial Dysautonomia

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background Familial dysautonomia (FD) is a hereditary neurodevelopmental disorder caused by aberrant splicing of the ELP1 gene, leading to a tissue‐specific reduction in ELP1 protein expression. Preclinical models indicate that increasing ELP1 levels can mitigate disease manifestations.
Alejandra González‐Duarte   +13 more
wiley   +1 more source

The McCance Brain Care Score and Mortality: Evidence From a Large‐Scale Population‐Based Cohort

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objectives This study aimed to examine the relationship between the McCance Brain Care Score (BCS) and mortality in the general population. Methods We conducted a prospective, population‐based cohort study using data from the UK Biobank. Participants with complete data enabling calculation of BCS and full mortality information were included ...
Zhiqiang Xu, Xiaoxiao Wang, Nan Li
wiley   +1 more source

Stem cells in regenerative medicine: Unlocking therapeutic potential through stem cell therapy, 3D bioprinting, gene editing, and drug discovery

open access: gold
Idris Zubairu Sadiq   +8 more
openalex   +1 more source

Chronological and Spatial Distribution of Skeletal Muscle Fat Replacement in FHL1‐Related Myopathies

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

Reduced Muscular Carnosine in Proximal Myotonic Myopathy—A Pilot 1H‐MRS Study

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Myotonic dystrophy type 2 (proximal myotonic myopathy, PROMM) is a progressive multisystem disorder with muscular symptoms (proximal weakness, pain, myotonia) and systemic manifestations such as diabetes mellitus, cataracts, and cardiac arrhythmias.
Alexander Gussew   +11 more
wiley   +1 more source

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