Results 21 to 30 of about 8,326 (219)
Developmental and Epileptic Encephalopathy due to Biallelic Pathogenic Variants in PIGM
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective PIGM encodes a critical enzyme in the glycosylphosphatidylinositol (GPI)‐anchor biosynthesis pathway. While promoter‐region mutations in PIGM have been associated with a relatively mild phenotype characterized by portal vein thrombosis and absence seizures, recent evidence suggests that coding‐region mutations result in a more severe
Júlia Sala‐Coromina +11 more
wiley +1 more source
SPG4 and Dementia: Expanding the Clinical Spectrum
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Hereditary spastic paraplegia (HSP) is a group of disorders characterized by progressive spasticity and lower limb weakness, with mutations in SPG4/SPAST being the most common cause. Detailed studies and clinical and molecular comparisons across different populations are missing.
Emanuele Panza +19 more
wiley +1 more source
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
Sertraline Treatment Can Mimic Niemann‐Pick Type C Biomarker Profile: A Diagnostic Pitfall
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Background Oxysterols (cholestane‐3β,5α,6β‐triol and 7‐ketocholesterol) and N‐palmitoyl‐O‐phosphocholineserine (PPCS) are sensitive biomarkers for Niemann‐Pick disease type C (NPC) screening. However, false‐positive results occur, with a biomarker profile suggestive of NPC despite the absence of pathogenic variants in genes involved in NPC or ...
Maria Makrygianni +19 more
wiley +1 more source
, 2014 The enormous radiative and mechanical luminosities of massive stars impact a vast range of scales and processes, from the reionization of the universe, to the evolution of galaxies, to the regulation of the interstellar medium, to the formation of star clusters, and even to the formation of planets around stars in such clusters.
J. C. Tan +7 more
openaire +2 more sources
Harnessing Fungal Biowelding for Constructing Mycelium‐Engineered Materials
Advanced Engineering Materials, EarlyView.Mycelium‐bound composites (MBCs) offer low‐carbon alternatives for construction, yet interfacial bonding remains a critical challenge. This review examines fungal biowelding as a biocompatible adhesive, elucidating mycelium‐mediated interfacial mechanisms and their role in material assembly. Strategies to optimize biowelding are discussed, highlighting
Xue Brenda Bai +2 more
wiley +1 more source
Fragmentation in Massive Star Formation [PDF]
Science, 2004 Studies of evolved massive stars indicate that they form in a clustered mode. During the earliest evolutionary stages, these regions are embedded within their natal cores. Here we present high-spatial-resolution interferometric dust continuum observations disentangling the cluster-like structure of a young massive star–forming region.
Beuther, H., Schilke, P.
openaire +3 more sources
Advanced Engineering Materials, EarlyView.Powder metal processing provides scalable advantages in nanoporous (np) metal development. Mechanical alloying is used to produce unique precursors for hybrid nanopore formation by oxide reduction and dealloying. As demonstrated in np Ag, this approach improves process efficiency while promoting smaller ligaments and larger pores, both of which are ...
Mark A. Atwater, Oliver A. Fowler
wiley +1 more source
Advanced Engineering Materials, EarlyView.The wettability of aluminum droplets (Al) on different copper substrates (Cu), where liquid Al spreads on solid Cu surfaces to form a liquid–solid interface, is studied numerically and experimentally. The experimental and numerical results show good agreement in the fast‐spreading regime.
Shan Lyu +8 more
wiley +1 more source
Advanced Engineering Materials, EarlyView.This study investigates the effects of milling parameters, including rotational speed, milling duration, and ball‐to‐powder ratio, on TiAl particle size and morphology in an XHV‐equivalent atmosphere. The creation of oxide‐free surfaces enhances the mechanical properties of green bodies.
Jytte Möckelmann +4 more
wiley +1 more source