Results 161 to 170 of about 2,666,439 (212)

Cognitive and Neuroimaging Divergence Between Juvenile and Adult FUS Amyotrophic Lateral Sclerosis

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disorder characterized by progressive motor neuron degeneration. Fused in sarcoma (FUS)‐associated juvenile ALS (jALS) represents a distinct and aggressive subgroup with rapid deterioration and poor prognosis.
Alexandra V. Jürs, Marcel Naumann, Annaliis Lehto, Hanna Schön, Jens Kurth, Johannes Prudlo, Andreas Hermann, Elisabeth Kasper   +7 more
wiley   +1 more source

Digital Cognitive Testing in Mitochondrial Disease: Validity and Challenges for Clinical Trial Use

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background Primary mitochondrial disease is a group of genetic disorders caused by pathogenic variants in nuclear or mitochondrial DNA, often resulting in progressive neurodegeneration and cognitive decline. Current management is primarily supportive, though recent research offers hope for disease‐modifying treatments in the future.
Oksana Pogoryelova, Jan Smeitink, Herma Renkema, Rosabeth White, Frankie Barton, Rachel Lyon, Jane Newman, Aye Moe, Yi Shiau Ng, Grainne Siobhan Gorman   +9 more
wiley   +1 more source

Validation of a Cellular Imaging‐Based Method as a Potential Biomarker for SPG4 Hereditary Spastic Paraplegia

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background Hereditary Spastic Paraplegia (HSP) comprises a group of rare genetic diseases characterized by length‐dependent axonal degeneration of the corticospinal tracts and dorsal columns, whose main clinical feature is spastic gait. Pathogenic variants in the SPG4 gene cause Spastic Paraplegia Type 4 (SPG4‐HSP), the most common form of HSP.
Gaia Fattorini, Valerio Licursi, Gianmarco Dalla Zanna, Flavio Dal Canto, Melissa Barghigiani, Nunzio Setola, Salvatore Rossi, Antonio Funcis, Filippo M. Santorelli, Gabriella Silvestri, Carlo Casali, Francesca Sardina, Cinzia Rinaldo   +12 more
wiley   +1 more source

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

The Price of Precision: A Critical Review of Molecular Diagnostics in Glioma, From Guidelines to Global Disparities

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Gliomas have undergone a profound redefinition over the past decade, transitioning from morphology‐based entities to biologically coherent diseases defined by molecular alterations. The 2021 WHO Classification of Tumors of the Central Nervous System and its 2022 update formalize this shift, establishing integrated diagnosis as the global ...
Maria Guarnaccia, Sebastiano Cavallaro
wiley   +1 more source

Nationwide Survey of Association Between Fever and Epileptic Seizure in CDKL5 Deficiency Disorder Revealed Therapeutic Implications

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective CDKL5 deficiency disorder (CDD) is a rare, severe developmental and epileptic encephalopathy. There is a pressing need to develop effective and sustainable therapeutic strategies. We aimed to investigate the causal association between febrile episodes and epileptic seizures for therapeutic implications in CDD patients.
Siyi Wang, Jialin Du, Jinghui Liu, Dongmei Hu, Hongxin Wang, Xiaoxiao Man, Lehong Gao, Shimin Hu, Xianghong Meng, Hongyang Zhao, Minjing Hu, Yingxue Yang, Zhiqi Xiong, Liankun Ren   +13 more
wiley   +1 more source

Clinical Impact of MGMT Promoter Methylation in IDH‐Mutant Gliomas: Influence of Threshold Selection and Clinical Confounding

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background The clinical relevance of MGMT promoter methylation in IDH‐mutant gliomas remains controversial in the era of molecular classification. We aimed to systematically evaluate its clinical relevance by integrating quantitative assessment, cutoff exploration, and adjustment for clinical confounding.
Haihui Jiang, Linxi Cao, Xiaodong Chen, Siqi Tong, Qinghui Zhu, Jun Yang, Song Lin, Yong Cui   +7 more
wiley   +1 more source

Extending Service Beyond Active Duty: Generalizability of Rheumatoid Arthritis Research Conducted Among U.S. Veterans

Arthritis Care &Research, Accepted Article.
Biomedical research involving United States Veterans continues to advance healthcare beyond the Veterans Health Administration. This is particularly true in rheumatoid arthritis (RA), where Veteran‐centric research has uncovered novel insights into pathogenesis, risk factors, and disease manifestations, informing clinical care and research across both ...
Austin M. Wheeler, Joshua F. Baker, Jennifer L. Barton, Maria I. Danila, Tate M. Johnson, Kamini Kuchinad, Kaleb Michaud, Amir A. Razmjou, J. Steuart Richards, Namrata Singh, Isaac D. Smith, Katherine D. Wysham, Grant W. Cannon, Bryant R. England, Amy Joseph, Deana Lazaro, Katherine P. Liao, Courtney Loecker, Andreas Reimold, Beth I. Wallace, Ted R. Mikuls   +20 more
wiley   +1 more source

Esterified Cholesterol Conjugates Enable LNP‐Mediated mRNA Delivery to the Blood–Brain Barrier Following Intravenous Administration

Advanced Materials, EarlyView.
A cholesterol‐conjugated lipid library enabled the identification of a ligand‐free LNP platform for efficient mRNA delivery to brain endothelial cells via systemic administration. This platform achieves selective BBB targeting without disrupting barrier integrity, and enables modulation of neuroinflammation and vascular function without requiring trans‐
Zeru Tian, Xu Wang, Alexis Pacheco Benitez, Erick Guerrero, Yaou Duan, Jingwen Wei, Lukas Farbiak, Daniel J. Siegwart   +7 more
wiley   +1 more source

Chemical Screening Identifies Danofloxacin as a Self‐Renewal Agonist of Embryonic Stem Cells through Alleviation of HDAC1‐Mediated Deacetylation of Tert and Prdm10

Advanced Science, EarlyView.
This study identified Danofloxacin as a novel supporter of the maintenance of mouse embryonic stem cell (ESC) pluripotency. It functions partially by inhibiting HDAC1, which increases specific histone acetylation marks and activates key genes like Tert and Prdm10.
Yan Zhang, Junxiang Ji, Baoxing Dong, Zhenhua Zhu, Xucheng Lv, Peng Chen, Wenqiang Liu, Min Zhou, Shou‐Dong Ye   +8 more
wiley   +1 more source