RNA Sequencing Resolves Cryptic Pathogenic Variants in Mitochondrial Disease
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Mitochondrial diseases are the most common inherited metabolic disorders, characterized by pronounced clinical and genetic heterogeneity that complicates molecular diagnosis. Although DNA‐based sequencing approaches have become standard in genetic testing, up to half of patients remain without a definitive diagnosis.
Zhimei Liu +21 more
wiley +1 more source
How did we get opaque windows? - Mutual constitution of technology and the built environment [PDF]
, 2016 Construction professionals are continually faced with the challenge of incorporating new technology into their buildings. Much of the current research treats innovations as a discrete entity, thereby overlooking the system properties of many innovations.
Boyd, Philippa, Schweber, Libby
core
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
Choroid Plexus Enlargement and USPIO‐Based Inflammatory Feature in Cerebral Small Vessel Disease
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective The choroid plexus (CP) is a key component of the blood–cerebrospinal fluid barrier (BCSFB), but its mechanism of action in cerebral small vessel disease (CSVD) remains unclear. This study investigated CP volume (CPV) alterations and their association with conventional imaging markers in CSVD and explored the underlying role of ...
Yongqiang Qu +11 more
wiley +1 more source
IET Renewable Power GenerationIn this study, the integration of grid‐forming (GFM) converters in power systems is discussed in terms of both the fundamental aspects of system stability and the technical possibilities of converter‐based resources.
Soenke Rogalla +6 more
doaj +1 more source
Submaximal Force Steadiness and Accuracy in Patients With Chronic Ankle Instability. [PDF]
J Athl Train, 2021 Lee H +5 more
europepmc +1 more source
A compact high-efficiency GaN based 400W solar micro inverter in ZVS operation
, 2020 Văn Sáng Nguyễn +5 more
openalex +1 more source
Advancing Age Modulates Associations Between Cognitive Impairment and Brain Volumes in Early MS
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Introduction Cognitive impairment is common in multiple sclerosis (MS), but manifestations following the first demyelinating event are relatively unexplored. We investigated cross‐sectional associations between magnetic resonance imaging (MRI)–derived brain volumes and the presence of cognitive impairment outcomes five years after the first ...
Piriyankan Ananthavarathan +14 more
wiley +1 more source
Effect of Foot Orthoses in Children With Symptomatic Flexible Flatfoot Based on Ultrasonography of the Ankle Invertor and Evertor Muscles. [PDF]
Ann Rehabil Med, 2021 Cho DJ, Ahn SY, Bok SK.
europepmc +1 more source
Persistent Bilateral [18F]THK5351 and Migrating Unilateral [18F]FDG Uptake in Anti‐LGI1 Encephalitis
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Anti–leucine‐rich glioma‐inactivated 1 encephalitis (LGI1‐E) can cause persistent cognitive deficits, but the mechanisms remain unclear. A 40‐year‐old woman with LGI1‐E presented with subacute cognitive deficits and showed mild left medial temporal lobe (MTL) swelling and fluid‐attenuated inversion recovery (FLAIR) hyperintensity on initial ...
Yusuke Akitomi +8 more
wiley +1 more source