Results 191 to 200 of about 214,395 (302)

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, Anna Marcé‐Grau, Barbara Masotto, Marta Codina, Lamia BenJemaa, Yasmina Elaribi, Mónica Martinez‐Gallo, Roger Colobran, Angel Sanchez‐Montañez, Irene Valenzuela, Yoshiko Murakami, Alfons Macaya   +11 more
wiley   +1 more source

Foreshock-induced slip transients set mainshock nucleation timing. [PDF]

Nature
Fryer B, Garagash D, Lebihain M, Passelègue F.   +3 more
europepmc   +1 more source

Efficacy of Intermittent Theta‐Burst Stimulation for Prolonged Disorders of Consciousness: A Prospective, Randomized, Controlled Trial

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background Emerging evidence suggests that low‐frequency neural oscillations are dynamically regulated by consciousness levels, with the recovery of low cortical activity potentially serving as a neurophysiological substrate for conscious emergence. Targeted enhancement of these low‐frequency rhythms in patients with disorders of consciousness
Chuan Xu, Jun Hu, Qianqian Wu, Min Wu, Yamei Yu, Hangcheng Li, Jian Gao, Jingqi Li, Nai Ding, Jie Yu, Benyan Luo   +10 more
wiley   +1 more source

Creation of a Merged Harmonized Large Database of Subject-Level Data from Acute Secondary Prevention Studies in Minor Non-Cardioembolic Stroke or TIA. [PDF]

Int J Cerebrovasc Dis Stroke
Brorson JR, Beniwal S, Giurcanu M, Landron D, Landron S, Siegler JE, Prabhakaran S, Johnson JA.   +7 more
europepmc   +1 more source

Epilepsy‐Associated Variants of a Single SCN1A Codon Exhibit Divergent Functional Properties

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Pathogenic variants in SCN1A, which encodes the voltage‐gated sodium channel NaV1.1, are associated with multiple epilepsy syndromes exhibiting a range of clinical severity. SCN1A variants are reported in different syndromes, including Dravet syndrome, which is associated with loss‐of‐function, whereas neonatal/infantile‐onset ...
Lanie N. Liebovitz, Christopher H. Thompson, Linda C. Laux, Alfred L. George Jr.   +3 more
wiley   +1 more source

Single-Molecule Discrimination of Multisialylated Ganglioside Oligosaccharides Using an Engineered Nanopore. [PDF]

Research (Wash D C)
Yao G, Ren B, Zhu D, Tan J, Hou J, Ma Y, Hang Z, Xu Z, Gao Z, Li T, Xia B.   +10 more
europepmc   +1 more source

Normal‐Appearing White Matter Injury Mediates Chronic Deep Venous Hypoxia and Disease Progression in Multiple Sclerosis

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective To explore how cerebral hypoxia and Normal‐Appearing White Matter (NAWM) integrity affect MS lesion burden and clinical course. Methods Seventy‐nine MS patients, including 13 clinically isolated syndrome (CIS) patients and 66 relapsing–remitting multiple sclerosis (RRMS) patients, and 44 healthy controls (HCs) were recruited from ...
Xinli Wang, Huiying Wang, Zhizheng Zhuo, Ai Guo, Ke Lv, Decai Tian, Chao Chai, Yunyun Duan, Shuang Xia   +8 more
wiley   +1 more source

Geometric Confinement in Solid-State Nanopores Enables Single-Molecule Discrimination of Ferritin Subunits and Translocation Bias. [PDF]

Nano Lett
Gu C, Zhu X, Khatri S, Thyashan N, Joty K, Kim MJ.   +5 more
europepmc   +1 more source

Reperfusion‐Dependent Outcomes After Endovascular Thrombectomy Stratified by NIHSS‐ASPECTS Clinical‐Core Mismatch

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective This analysis evaluates the effect of successful reperfusion on functional outcomes after MT, stratified by admission National Institutes of Health Stroke Scale (NIHSS) and Alberta Stroke Program Early CT Score (ASPECTS) as surrogates for clinical‐core mismatch, using multicenter registry data.
Felix Schlicht, Lukas Meyer, Gabriel Broocks, Matthias Bechstein, Christian Thaler, Christian Heitkamp, Laurens Winkelmeier, Vincent Geest, Alexander Heitkamp, Maximilian Jungnitz, Gregor Peter, Luca Meucci, Tobias Faizy, Jawed Nawabi, Caspar Brekenfeld, Fabian Flottmann, Maximilian Schell, Alexandros Hadjilaou, Uta Hanning, Götz Thomalla, Jens Fiehler, Susanne Gellißen, Helge C. Kniep, for the German Stroke Registry Endovascular Treatment, (GSR‐ET) Alexander Nave, Anna Alegiani, Annerose Mengel, Arno Reich, Bernd Eckert, Charlotte Pietrock, Christian Nolte, Eberhard Siebert, Fabian Flottmann, Fee Keil, Franziska Dorn, Gabor Petzold, Götz Thomalla, Hanna Zimmermann, Jan Borggrefe, Jan Hendrik Schäfer, Jens Fiehler, Joachim Röther, Klaus Gröschel, Lars Kellert, Mario Abruscato, Maximilian Schell, Omid Nikoubashman, Peter Schellinger, Silke Wunderlich, Steffen Tiedt, Sven Thonke, Timo Uphaus, Tobias Boeckh‐Behrens, Ulrike Ernemann   +53 more
wiley   +1 more source

Xenon isotopes reveal a geomagnetic prelude to Earth's oxygenation. [PDF]

Natl Sci Rev
Wei Y.
europepmc   +1 more source