Results 231 to 240 of about 453,529 (294)

Differences in Motor and Perceptual Sequence Learning Between People Who Stutter and People Who Do Not Stutter. [PDF]

Psych J
Ma Q, Chen K, Wang C, Li M, Gao L, Kong L.   +5 more
europepmc   +1 more source

Super‐Refractory Status Epilepticus (SRSE) in a Patient With Compound Heterozygous OPA1 Variants: Case Report and Literature Review

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Super‐Refractory Status Epilepticus (SRSE) is a rare, life‐threatening neurological emergency with unclear etiology in many cases. Mitochondrial dysfunction, often due to disease‐causing genetic variants, is increasingly recognized as a cause, with each gene producing distinct pathophysiological mechanisms.
Pouria Mohammadi, Lara Basovic, Christopher Michael McGraw   +2 more
wiley   +1 more source

Growth pattern and molecular biological analysis of primary meningioma cell cultures under different conditions. [PDF]

Mol Med Rep
Linsler S, Moroldo AL, Schulz-Schaeffer W, Ketter R, Oertel J, Urbschat S.   +5 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

Delayed cerebral abscess caused by <i>Scedosporium apiospermum</i> following fecal pit near-drowning. [PDF]

Med Mycol Case Rep
Sheng H, Hongfei D, Ke F, Xiujuan G, Chunxia X.   +4 more
europepmc   +1 more source

Clinical Validation of Plasma p‐217tau in Neurological Diseases

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Plasma p‐217tau is a minimally invasive but specific biomarker for diagnosing Alzheimer's disease (AD). However, its disease specificity remains to be clinically evaluated. We validated the reliability of the p‐217tau biomarker in 12 other neurological diseases.
Takeshi Kawarabayashi, Takumi Nakamura, Ryoma Takahashi, Tetsuya Ueda, Seiji Kinoshita, Chikage Uchida, Takashi Sugawara, Kentaro Hashimoto, Kunihiko Ishizawa, Masakuni Amari, Hiroo Kasahara, Yoshio Ikeda, Masamitsu Takatama, Mikio Shoji   +13 more
wiley   +1 more source

The Treatment Process and Clinical Analysis of 2 Cases of Enterococcus Faecalis Infection Following Cataract Surgery. [PDF]

Clin Med Insights Case Rep
Bao W, Liu J, Yang Y, Sun G.
europepmc   +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, 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

Oral contraceptives and tissue factor expression. Comments on "Do combined oral contraceptives induce formation of tissue factor?" [PDF]

Res Pract Thromb Haemost
Østerud B.
europepmc   +1 more source

Application of a Novel Desirability of Outcome Ranking Endpoint Incorporating a Framework for Resistance Assessment and Microbiologic Evaluation in Antibiotic Trials: A Proof-of-Concept in a Post Hoc Analysis of the BALANCE Trial. [PDF]

Open Forum Infect Dis
Ong SWX, Patrikar A, Pinto R, Mahar RK, Rishu A, Davis JS, Fowler RA, Tong SYC, Daneman N.   +8 more
europepmc   +1 more source