Results 231 to 240 of about 1,832,592 (294)

Juvenile Huntington Disease With Cerebellar‐Predominant Atrophy Identified by Genome Sequencing

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Juvenile Huntington disease accounts for a small fraction of Huntington disease cases and is driven by the largest trinucleotide repeat expansions. We describe a 6‐year‐old boy with progressive global regression, generalized dystonia, and epilepsy, in whom serial imaging showed striking cerebellar‐predominant atrophy with an initially normal ...
Enrique Gonzalez Saez‐Diez   +5 more
wiley   +1 more source

Multimodal <i>KCNQ1</i> Variant-Effect Maps Define Ion Channel Mechanisms and Disease Risk. [PDF]

open access: yesCirculation
Harvey ML   +28 more
europepmc   +1 more source

Microvascular Damage Is Associated With Carotid Wall Structural Changes in Systemic Sclerosis: A Capillaroscopy and Ultrasound‐Based Observational Study

open access: yesArthritis Care &Research, EarlyView.
Objective Systemic sclerosis (SSc) is characterized by cardiovascular risk excess not fully explained by traditional factors. Whether the severity of microvascular damage correlates with structural subclinical atherosclerosis remains unclear. We investigated the relationship between nailfold videocapillaroscopy (NVC) abnormalities and carotid ...
Eugenio Capparelli   +13 more
wiley   +1 more source

Entropy‐Driven Design of Low‐Melting‐Point Alloys via Compositionally Complex Strategy

open access: yesAdvanced Engineering Materials, EarlyView.
Conventional low‐melting‐point alloys (LMPAs) are limited by a narrow compositional space and inherent property trade‐offs. This review presents an entropy‐driven design strategy that overcomes these limitations, ushering in a new class of low‐melting‐point compositionally complex alloys (LMCCAs).
Yinghui Shang   +6 more
wiley   +1 more source

Investigating the Low‐Temperature Phase Stability of the Binary Ta–W System

open access: yesAdvanced Engineering Materials, EarlyView.
Atomistic simulations show that the binary Ta–W system forms ordered intermetallic phases, B2‐TaW and D03‐TaW3, as 0 K ground states. Configurational entropy, however, lowers the free energy of the disordered bcc solid solution, which becomes the stable phase above about 400 K.
Klemens Lechner   +7 more
wiley   +1 more source

Cryogenic Deformation Behavior of TiAl and Insights Into Embrittlement After High‐Temperature Exposure Combined With Secondary Ion Mass Spectroscopy of Near Surface Chemistry

open access: yesAdvanced Engineering Materials, EarlyView.
Near‐surface deuterium enrichment profiles for different microstructural types of TiAl after exposure at 700 °C in a heavy water‐containing environment. The deuterium levels are significantly higher than expected from natural occurrence, indicating that the heavy water dissociated during the exposure treatment and entered the specimens.
Jonathan D. H. Paul   +5 more
wiley   +1 more source

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