Results 101 to 110 of about 170,173 (258)
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective High‐resolution MRI enables detailed assessment of intracranial vessel wall pathology in moyamoya vasculopathy. We aimed to classify adult moyamoya vasculopathy etiologies using high‐resolution MRI and to examine subtype‐specific associations between high‐resolution MRI features and ischemic infarction.
Guangsong Han +8 more
wiley +1 more source
Early Clinical, Imaging, and Pathological Characteristics of SRPK3/TTN‐Digenic Myopathy
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective SRPK3/TTN‐digenic myopathy was recently established as a skeletal muscle myopathy caused by digenic inheritance. This study characterizes the early clinical presentation of SRPK3/TTN‐digenic myopathy in one previously reported and seven newly identified pediatric patients.
Rotem Orbach +23 more
wiley +1 more source
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Variants in SLC6A1, encoding the GABA transporter 1 (GAT‐1), cause epilepsy, autism spectrum disorder, and developmental delay via loss of GABA uptake, impaired trafficking, and ER retention. We previously found that 4‐Phenylbutyrate (PBA), an FDA‐approved drug, restores GABA uptake and reduces seizures in SLC6A1‐related disorders ...
Melissa B. DeLeeuw +5 more
wiley +1 more source
Prominent Movement Disorders in RNU2‐2‐Related Spliceosomopathy
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Pediatric movement disorders often overlap with neurodevelopmental diseases, suggesting shared molecular mechanisms. Variants in small nuclear RNA (snRNA) genes encoding spliceosome components have recently been associated with neurodevelopmental disorders, termed “RNUopathies.” We analyzed genome sequencing data from 14 patients with ...
Magdalena Krygier +6 more
wiley +1 more source
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Neurochemical levels measured by brain MR spectroscopy (MRS) have been proposed as endpoints for clinical trials in early‐stage spinocerebellar ataxia (SCA) trials. We tested their trial‐readiness by quantifying neurochemicals in three affected brain regions in early‐stage cohorts of SCA2 and SCA3, examining their reproducibility in ...
James M. Joers +19 more
wiley +1 more source
Cognitive and Neuroimaging Divergence Between Juvenile and Adult FUS Amyotrophic Lateral Sclerosis
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disorder characterized by progressive motor neuron degeneration. Fused in sarcoma (FUS)‐associated juvenile ALS (jALS) represents a distinct and aggressive subgroup with rapid deterioration and poor prognosis.
Alexandra V. Jürs +7 more
wiley +1 more source
Mechanoluminescent HOF Nanotransducers Enabled Sono‐Optogenetics in Parkinsonian Rats
Advanced Functional Materials, EarlyView.We present a mechanoluminescent system utilizing porous hydrogen‐bonded organic frameworks (HOFs) as a toolkit for focused ultrasound‐triggered, non‐invasive light delivery to the deep brain in rats. This approach enables the specific activation of PV‐GPe neurons in dopamine‐depleted Parkinson's disease rat models, resulting in a comparable alleviation
Wenliang Wang +18 more
wiley +1 more source
Ecology and EvolutionSpecies syngameons are groups of more than two hybridizing species that form complex hybrid networks. Syngameons facilitate sharing the gene pool among species while maintaining morphological differentiation.
Manuel Curto +2 more
doaj +1 more source
Double‐Interpenetrating Composite Bioink for Multi‐Component 3D Bioprinting and Biofabrication
Advanced Functional Materials, EarlyView.Marine‐polysaccharides‐derived double interpenetrating network hydrogel‐based bioink, combining the attributes of physical and ionic crosslinking, enables room‐temperature bioprinting of mechanically defined structures that can be handled and are cytocompatible.
Fabian Tribukait‐Riemenschneider +1 more
wiley +1 more source
Mechanically Programmable DNA Hydrogel Microparticles for 3D Cellular Systems
Advanced Materials, EarlyView.DNA hydrogel microparticles are designed to exhibit controllable viscoelasticity and stiffness across three orders of magnitude from 30Pa$30 \,\mathrm{Pa}$ to 6.5kPa$6.5 \,\mathrm{kPa}$. They are uptaken into fibroblast spheroids where they are actively remodeled by cellular forces depending on their mechanical properties.
Tobias Walther +9 more
wiley +1 more source