Results 141 to 150 of about 493,232 (287)

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, Xin Duan, Fatemeh Peymani, Jia Wang, Chengjia Bao, Chaolong Xu, Ying Zou, Zixuan Zhang, Yunxi Zhang, Tongyue Li, Martin Pavlov, Junling Wang, Minhan Song, Tianyu Song, Xiaodi Han, Mingxi Sun, Danmin Shen, Ruoyu Duan, Huafang Jiang, Manting Xu, Holger Prokisch, Fang Fang   +21 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, Xiaoning Ren, Cuihua Fan, Chun Li, Lijie Zhang, Zaiqiang Zhang, Shaowu Li, Zhongmeng Lai, Bin Cai, Ying Fu, Yi Lin, Zhibao Zhu   +11 more
wiley   +1 more source

Memory and Resting‐State Connectivity in Acute Transient Global Amnesia: A Case–Control fMRI Study

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background and Objectives Transient global amnesia (TGA) is a striking model of isolated amnesia. While hippocampal lesions are well described, the network‐level mechanisms and the precise neuropsychological profile remain debated. Our objective was thus to characterize functional and neuropsychological correlates of acute TGA and their ...
Elias El Otmani, Emmanuel Barbeau, Béatrice Lemesle, Emilie Milongo‐Rigal, Sophie Fernandez, Sandrine Charpentier, Jean‐François Albucher, Nicolas Raposo, Fabrice Bonneville, Patrice Péran, Jérémie Pariente   +10 more
wiley   +1 more source

The Tale of the Residual Tail: Insights From Continuous Intracranial Monitoring From Post‐Hippocampectomy Dynamics

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Subtotal hippocampal resection can leave residual hippocampal tissue, yet the immediate postoperative electrophysiologic evolution of such remnants is unknown. We describe a patient with drug‐resistant temporal lobe epilepsy in whom a hippocampal remnant was continuously monitored using a responsive neurostimulator (RNS) following subtotal ...
Patrick Hartnett, Syeda Amrah Hashmi, Amaan Qureshi, Heather Spader, Shayan Moosa, Ifrah Zawar   +5 more
wiley   +1 more source

Thermoreflectance Detection of Point Defects Resulting from Focused Ion Beam Milling

Advanced Engineering Materials, EarlyView.
Focused ion beam (FIB) milling is a common tool for nanoscale material processing, however irradiation damage, redeposition, and contamination can occur. We use several characterization tools to show FIB‐induced effects beyond 1 mm from the milled area.
Thomas W. Pfeifer, Eric R. Hoglund, Anton V. Ievlev, Patrick E. Hopkins   +3 more
wiley   +1 more source

The Role of the HMGB1 C-Terminal Domain in Epithelial-Mesenchymal Transition and Invasion in 2D and 3D MDA-MB-231 Breast Cancer Models. [PDF]

Int J Mol Sci
Vladimirova D, Yusein-Myashkova S, Pasheva E, Ugrinova I, Todorova J.   +4 more
europepmc   +1 more source

Characterization of Defect Distribution in an Additively Manufactured AlSi10Mg as a Function of Processing Parameters and Correlations with Extreme Value Statistics

Advanced Engineering Materials, EarlyView.
Predicting extreme defects in additive manufacturing remains a key challenge limiting its structural reliability. This study proposes a statistical framework that integrates Extreme Value Theory with advanced process indicators to explore defect–process relationships and improve the estimation of critical defect sizes. The approach provides a basis for
Muhammad Muteeb Butt, Varma Kvvssn, Hossein Laieghi, Zia Uddin, Peyman Ansari, E. Kıvanç Sadak, Can Barış Toprak, Hüseyin Kızıl, Enrico Salvati   +8 more
wiley   +1 more source

Imaging photoplethysmography reveals differences in the reactions of cerebral and systemic hemodynamics to infusion of vasoactive drugs. [PDF]

Front Physiol
Sokolov AY, Zaytsev VV, Shcherbinin AV, Kamshilin AA.   +3 more
europepmc   +1 more source

Numerical Exploration of Thermal Shock Resistance in MgO–C Refractories

Advanced Engineering Materials, EarlyView.
A mesostructure‐resolved numerical framework is developed to evaluate the thermal shock resistance of MgO–C refractories. By modeling interface debonding under rapid temperature changes and introducing a modified thermal shock parameter that accounts for mesocracks, the study shows how graphite content and aggregate size influence thermal shock ...
Jishnu Vinayak Gopi, Stephan Roth, Christos G. Aneziris, Bjoern Kiefer   +3 more
wiley   +1 more source

Differential effect of pulsatile pressure on the myogenic responses of small arteries. [PDF]

Pflugers Arch
Budrowitz A, Mladenov M, Gagov H, Schubert R.   +3 more
europepmc   +1 more source