Results 111 to 120 of about 513,528 (306)

Unraveling 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 more
wiley   +1 more source

Students with Acquired Brain Injury

Research, Advocacy, and Practice for Complex and Chronic Conditions, 2019
Representing a sequel to a similar snapshot in mid-2010, this article provides an updated overview of the judicial and administrative case law concerning students with traumatic and nontraumatic brain injury from pre-K to grade 12.  The scope is limited to cases under the Individuals with Disabilities Education Act and the pair of ...
openaire   +3 more sources

Early Recognition of Treatment‐Responsive Rapidly Progressive Dementia: The Modified STAM3mP Score

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Early identification of patients with treatment‐responsive rapidly progressive dementia (RPD) is important as early treatment improves outcomes. The STAM3P score identifies treatment‐responsive RPD using “high risk” presenting features. We optimized performance by adding a time component (i.e., dementia within 3 months) and validated the ...
R. W. van Steenhoven, N. Satyadev, A. E. M. Bastiaansen, Y. D. Piura, J. Kerstens, Y. S. Crijnen, J. Brenner, T. Brand, T. M. Bienfait, S. Veenbergen, J. M. de Vries, F. J. de Jong, E. G. P. Dopper, P. A. E. Sillevis Smitt, H. Seelaar, G. S. Day, M. J. Titulaer   +16 more
wiley   +1 more source

A 17 Year Old With Developmental Delay Presenting With Increasing Confusion and Imbalance

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Methylmalonic acidemia is an autosomal recessive genetic disorder primarily caused by defects in methylmalonyl‐CoA mutase and cobalamin (vitamin B12) metabolism. These defects disrupt the tricarboxylic acid cycle and oxidative phosphorylation, leading to the abnormal accumulation of metabolic products such as methylmalonic acid, propionic acid,
Wei Zhao, Yingli Zhang, Hongliang Zheng
wiley   +1 more source

Neurotrauma admission disparities in Scotland: a 6-year analysis of socioeconomic and demographic trends

Frontiers in Neurology
BackgroundNeurotrauma, encompassing traumatic brain injury (TBI) and spinal trauma, remains a significant global cause of mortality and morbidity. Socioeconomic deprivation is associated with higher injury incidence and poorer outcomes, though gradients ...
Andreas K. Demetriades, Andreas K. Demetriades, Andreas K. Demetriades, Wilco Peul, Wilco Peul   +4 more
doaj   +1 more source

White Matter Microstructural Abnormalities in Neonatal Onset Genetic Epilepsy

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Recent evidence indicates that epilepsy is associated with abnormal white matter. If seizures alter white matter, then the impact upon network function, epileptogenesis, and cognition could be pronounced in neonates undergoing rapid developmental myelination. Neonates with epilepsy due to nonstructural genetic causes provide a unique
Amanda G. Sandoval Karamian, Tianjia Zhu, Hao Huang, Shavonne L. Massey, Mark P. Fitzgerald, Darshana Parikh, Arastoo Vossough, Ingo Helbig, Nicholas S. Abend   +8 more
wiley   +1 more source

Subclinical 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 more
wiley   +1 more source

T1 Over Squared Proton Density Ratio to Characterize Multiple Sclerosis Lesions

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Differentiating remyelinated from demyelinated lesions in MS remains challenging without histological confirmation. This study introduces the T1‐to‐PD2 ratio (TPR) imaging approach and evaluates its ability to characterize MS lesions alongside other quantitative MRI (qMRI) metrics. Methods Thirty individuals with MS (mean age: 47.5 ± 
Sarah J. Wright, Scotty G. McKay, Jean Ramos Bou, Fen Bao, Vivian B. Truong, Chenyang Li, Li Jiang, Anza B. Memon, E. Mark Haacke, Yulin Ge, Yongsheng Chen   +10 more
wiley   +1 more source

Interaction 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 more
wiley   +1 more source

Editorial: Equity, diversity, and inclusion in rehabilitation sciences

Frontiers in Rehabilitation Sciences, 2023
Adria Quigley, Adria Quigley, Hellen Myezwa, Caitlin McArthur   +3 more
doaj   +1 more source