Results 201 to 210 of about 69,259,824 (258)

Augmenting and Assaying Nav1.1 Protein Quantity for Dravet Syndrome Therapy

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Dravet Syndrome (DS) is a developmental and epileptic encephalopathy predominantly caused by heterozygous loss‐of‐function variants in SCN1A, which encodes Nav1.1. Conserved upstream open reading frames (uORFs) in SCN1A were validated to regulate translation in reporter assays, demonstrating the therapeutic viability of increasing Nav1.1 from ...
Aiswarya Saravanan, Jordan Safran, Anna Loughman, Grace Lin, Shivanshi Vaid, Dana Allababidi, Peter M. Tessier, Louis T. Dang   +7 more
wiley   +1 more source

Posterior Disconnection Syndrome in Early‐Stage Adult‐Onset Cerebral Adrenoleukodystrophy

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Adult‐onset cerebral adrenoleukodystrophy is potentially treatable but often difficult to recognize before advanced cerebral involvement. Herein, we describe three men with early‐stage disease who initially presented with subtle visual complaints rather than subcortical dementia. Targeted neuropsychological testing revealed higher‐order visual
Kazuto Katsuse, Takashi Matsukawa, Yumiko Nakamura, Kazuo Kakinuma, Shoko Ota, Ryo Hara, Saki Nakashima, Kaoru Ito, Yutaro Nakamori, Toshiyuki Kakumoto, Masashi Hamada, Shigenori Kanno, Kyoko Suzuki, Tatsushi Toda   +13 more
wiley   +1 more source

The Comprehensive Live Cell‐Based Cytotoxicity Assay for Monitoring Disease Activity and Guiding Rescue Therapy in Acute Attacks of NMOSD

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Neuromyelitis optica spectrum disorder (NMOSD) is a devastating neurological disease that lacks serological biomarkers that can accurately reflect disease activity. We established a live cell‐based assay (LCBA) using serum with endogenous complement to quantify the overall cytotoxicity, offering a novel functional tool for monitoring
Xiaona Xu, Jie Ding, Yupeng Du, Guibao Luo, Jinming Li, Rui Liu, Xiaoyi Xu, Xiao Li, Minshu Li, Wei Jiang, Chunsheng Yang   +10 more
wiley   +1 more source

Ofatumumab Therapy and Long‐Term Seizure Outcomes of Patients With Relapsing Anti‐NMDA Receptor Encephalitis

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective There is a lack of studies on seizure outcomes associated with ofatumumab therapy in patients for relapsing anti‐N‐methyl‐D‐aspartate (NMDA) receptor encephalitis. We aimed to evaluate long‐term seizure outcomes of ofatumumab therapy for relapsing anti‐NMDA receptor encephalitis.
Jian Wang, Mengjiao Li, Ping Kong
wiley   +1 more source

Stage‐Specific Patterns of Imaging and Non‐Motor Biomarkers in Spinocerebellar Ataxia Type 3

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Advancements in disease‐modifying therapies for spinocerebellar ataxia Type 3 (SCA3) underscore the need for robust biomarkers to monitor disease progression and evaluate treatment efficacy. Although motor phenotypes have been well characterized, less is known about non‐motor and imaging‐based features across different disease stages.
Chun Li, Zhi‐Xian Ye, Xuan‐Yu Chen, Liang‐Liang Qiu, Zhi‐li Chen, Yu‐Sen Qiu, Wei Lin, Ru‐Ying Yuan, Xin‐Tong Yu, Chun‐Yu Huang, Xin‐Yuan Chen, Min‐Ting Lin, Jian‐Ping Hu, Wan‐Jin Chen, Ning Wang, Shao‐Bo Yao, Shi‐Rui Gan, Ying Fu   +17 more
wiley   +1 more source

PCGF1 Promotes the Tumorigenesis of Malignancies Through Upregulating CCDC34 in Glioma

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background Polycomb group factor 1 (PCGF1) and coiled‐coil domain‐containing protein 34 (CCDC34) have been implicated in tumorigenesis in multiple malignancies. However, their biological functions and prognostic significance in glioma remain poorly defined.
Yuanbing Chen, Jianbing Xiong, Ziran Ou, Tianhao Zhao, Hui Li, Jun Huang, Zhi Tian, Wuyang Cao   +7 more
wiley   +1 more source

Determinants of Body Mass Index in Early Systemic Sclerosis: Implications for Nutritional Risk Stratification

Arthritis Care &Research, EarlyView.
Objective Gastrointestinal (GI) involvement can lead to malnutrition in patients with systemic sclerosis (SSc). Body mass index (BMI) remains the most widely used marker to screen nutritional status. We aimed to identify predictors of lower BMI in patients with SSc. Methods Patients with SSc from a prospective US cohort meeting 2013 American College of
Ali Y. Ayla, Meng Zhang, Bingrui Chen, Claudia Pedroza, Brian Skaug, Maureen Mayes, Michael Hughes, Shervin Assassi, Zsuzsanna H. McMahan   +8 more
wiley   +1 more source

Association of Elevated Platelets and C‐Reactive Protein With Severe Disease and Poor Survival in Systemic Sclerosis

Arthritis Care &Research, EarlyView.
Objective Elevated C‐reactive protein (CRP) levels in systemic sclerosis (SSc) have been linked with severe disease and worse survival, but the role of platelet levels remains unclear. This study examined whether elevated platelet levels, CRP levels, or both are associated with disease severity, progression, and survival in SSc.
Brian S. Lee, Shufeng Li, Srijana Davuluri, Jennifer Lee, Lorinda Chung   +4 more
wiley   +1 more source

Development of a Disease Activity Index for the Assessment of VEXAS Syndrome (VEXAS‐DAI)

Arthritis Care &Research, EarlyView.
Objective Vacuoles, E1 enzyme, X‐linked, autoinflammatory, somatic syndrome (VEXAS) syndrome is characterized by a complex spectrum of inflammatory and hematologic manifestations. Clinical research to identify effective therapies is urgently needed but is hindered by the lack of validated outcome measures.
Kevin Byram, Heřman Mann, Danielle Hammond, Onima Chowdhury, Sinisa Savic, Yohei Kirino, Carmelo Gurnari, Maël Heiblig, Thibault Comont, Arsène Mekinian, Mrinal M. Patnaik, Lachelle D. Weeks, Gary Ho, Adam Al‐Hakim, Scott Goldberg, Marcela A. Ferrada, Sophie Georgin‐Lavialle, Peter C. Grayson, Emma M. Groarke, Bhavisha Patel, Megan Sullivan, Sarah A. Buckley, Bryan G. Harder, Raman Garcha, David B. Beck, Matthew J. Koster   +25 more
wiley   +1 more source

Comparison of Triply Periodic Minimal Surface Energy Absorbers Under Uniaxial Compressive Loading

Advanced Engineering Materials, EarlyView.
This study investigates LCD 3D printed Triply Periodic Minimal Surface (TPMS) structures as mechanical energy absorbers. By comparing various base designs and layered combinations under uniaxial compression, it identifies that a Diamond‐Gyroid sandwich structure offers superior performance.
Sergej Grednev, Noah‐Lean Roschlaub, Anne Jung   +2 more
wiley   +1 more source