Results 121 to 130 of about 609,287 (254)
Comprehensive Characterization of 98 Chinese Cases of Genetic Creutzfeldt‐Jakob Disease With T188K Mutation
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective
To characterize the demographic, clinical, and laboratory features of the Chinese patients of genetic Creutzfeldt‐Jakob disease with T188K variant (T188K‐gCJD), the most common subtype of genetic prion diseases (gPrDs) in China. Methods
In this nationwide retrospective study, data from 98 genetically confirmed T188K‐gCJD patients ...Chun‐Jie Li, Dong‐Lin Liang, Li‐Ping Gao, Wei‐Wei Zhang, Wei Zhou, A. Ruhan, Bing Xu, Run‐Dong Cao, Kang Xiao, Cao Chen, Qi Shi, Xiao‐Ping Dong +11 morewiley +1 more sourceProgression of visual cognition and neuropsychiatric symptoms in Huntington’s disease: a 1-year follow-up study across preclinical and clinical phases
Frontiers in PsychologyIntroductionHuntington’s disease (HD) is a progressive and complex neurodegenerative disorder marked by motor, psychiatric, and cognitive impairments. This study evaluates the progression of visual cognition across the HD spectrum—including pre-manifest ...Rocio Del Pino, Rocio Del Pino, Maria Ángeles Acera, Ane Murueta-Goyena, Ane Murueta-Goyena, Beatriz Tijero, Beatriz Tijero, Marta Ruiz-Lopez, Marta Ruiz-Lopez, Johanne Somme, Silvia Pérez-Fernández, Javier Ruiz, Andrea Gabilondo, Rosario Sánchez-Pernaute, Rosario Sánchez-Pernaute, Iñigo Gabilondo, Iñigo Gabilondo, Iñigo Gabilondo, Tamara Fernández-Valle, Tamara Fernández-Valle, Juan Carlos Gómez Esteban, Juan Carlos Gómez Esteban, Juan Carlos Gómez Esteban +22 moredoaj +1 more sourceUnraveling 4‐Phenylbutyrate's Therapeutic Role in SLC6A1 Disorders: Pharmacochaperoning Over HDAC Inhibition
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective
Variants in SLC6A1, encoding the GABA transporter 1 (GAT‐1), cause epilepsy, autism spectrum disorder, and developmental delay via loss of GABA uptake, impaired trafficking, and ER retention. We previously found that 4‐Phenylbutyrate (PBA), an FDA‐approved drug, restores GABA uptake and reduces seizures in SLC6A1‐related disorders ...Melissa B. DeLeeuw, Karishma Randhave, Ekta Anand, Ziang (Debbie) Song, Wangzhen Shen, Jing‐Qiong Kang +5 morewiley +1 more sourceSubclinical Optic Nerve Involvement in Radiologically Isolated Syndrome: Multimodal Detection and Diagnostic Impact
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objectives
We aimed to determine the frequency of subclinical optic nerve (ON) lesions using MRI, optical coherence tomography (OCT), and visual evoked potentials (VEP) in radiologically isolated syndrome (RIS), and to assess their diagnostic and prognostic significance.Christine Lebrun‐Frenay, Cassandre Landes‐Château, Lydiane Mondot, Mikael Cohen, Margherita Popolo, Jérôme de Seze, Bertrand Bourre, Françoise Durand‐Dubief, Olivier Casez, Orhun H. Kantarci, Aksel Siva, Stephanie Baillif, Darin T. Okuda, Letizia Leocani +13 morewiley +1 more sourceInteraction of Intraprocedural Antiplatelets and Intravenous Thrombolysis in Acute Intracranial Stenting: RESISTANT Registry Subanalysis
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Introduction/Objective
Acute intracranial stenting during endovascular thrombectomy (EVT) for ischemic stroke requires intraprocedural antiplatelet therapy (APT) to maintain patency. However, the hemorrhagic risk of combining APT with intravenous thrombolysis (IVT) remains uncertain.Aaron Rodriguez‐Calienes, Leonardo Cruz‐Criollo, Eric Kontowicz, Marta Olivé‐Gadea, Francesco Diana, Johannes Kaesmacher, Adnan Mujanovic, Serdar Geyik, Songul Senadim, Amedeo Cervo, Andrea Salcuni, Mariangela Piano, Manuel Moreu, Alfonso López‐Frías, Ameer E. Hassan, Samantha Miller, Elena Zapata‐Arriaza, Asier de Albóniga‐Chindurza, Mauro Bergui, Stefano Molinaro, João André Sousa, Fábio Gomes, João Sargento‐Freitas, Andrea Alexandre, Alessandro Pedicelli, Jeremy Hofmeister, Paolo Machi, Luca Scarcia, Erwah Kalsoum, Jose Amorim, Torcato Meira, Leonardo Renieri, Francesco Capasso, Daniele Romano, Eduardo Bárcena‐Ruiz, David Seoane, Mohamad Abdalkader, Piers Klein, Thanh N. Nguyen, Catarina Perry da Câmara, Anderson Brito, Nashwa Abdelhakim, Isabel Fragata, Dileep R. Yavagal, Jude H. Charles, Jose Rodriguez Castro, Pedro Vega, Atilla Özcan Özdemir, Zehra Uysal Kocabaş, Stanislas Smajda, Sadiq Al Salman, Jane Khalife, Tudor G. Jovin, Francesco Biraschi, Francesca Richetti, Pedro Castro, Luis Albuquerque, Adnan Siddiqui, Vinay Jaikumar, Pedro Navia, Nikolaos Ntoulias, Marios Psychogios, Mariano Velo, Joaquín Zamarro, Gonzalo de Paco, Yazan Ashouri, Mohammad AlMajali, Juan F. Arenillas, Alicia Sierra, Michele Romoli, João Pedro Marto, Shadi Yaghi, Marc Ribo, Alejandro Tomasello, Manuel Requena, Santiago Ortega‐Gutierrez +75 morewiley +1 more sourceHuman Pegivirus Encephalitis With Brain Detection and Response to Sofosbuvir Ledipasvir
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT
Human pegivirus (HPgV‐1) has been associated with severe encephalomyelitis in immunocompromised patients. Its neurological spectrum remains poorly defined. We report a slowly progressive encephalitis in a person living with well‐controlled HIV, characterized by white matter abnormalities and inflammatory cerebrospinal fluid (CSF). HPgV RNA was Antoine Moulignier, Françoise Heran, Francis Lallemand, Pierre Bourdillon +3 morewiley +1 more sourceEffects of Add‐On Icosapent Ethyl With Standard Treatment on Functional Outcomes and Inflammatory Biomarkers in Acute Ischemic Stroke: A Blinded Randomized Controlled Trial
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Background
Ischemic stroke, a major cause of mortality and long‐term disability, results from the abrupt cessation of cerebral blood flow due to vascular occlusion or rupture. Icosapent Ethyl (EPA‐EE), approved for hypertriglyceridemia, has anti‐inflammatory and antithrombotic properties that may lessen ischemic damage.Mitra Mahmoudi Meymand, Seyed Hossein Aghamiri, Saeed Mohmammad Soleymani, Shadiyeh Bararpoor Poshkohi, Samaneh Masoudi, Hadi Esmaily +5 morewiley +1 more sourceClinical and Modifiable Factors Associated With Disability and Relapse in MOGAD: A Multicentre Cohort Study
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Background
Factors associated with relapse course and disability in myelin oligodendrocyte glycoprotein antibody‐associated disease (MOGAD) remain incompletely understood. Objectives
To identify clinical and modifiable factors associated with relapse and disability in MOGAD. Methods
In this ambispective multicentre cohort study using data from Yingtao Wang, Shaoxin Tao, Qiujia Wang, Xiaoyu Xu, Hui Yao, Zheng Liu, Dawei Li, Zhandong Qiu, Jinming Han, Jiangwei Xia, Qi Wang, Jun Sun, Kai Shao, Jiao Li, Shishuang Ruan, Yi Zhong, Jun Guo, Shougang Guo, Yue Huang, Guoliang Chai, Tao Jin, Hongyu Zhou, Junwei Hao, Yinan Zhao +23 morewiley +1 more source