Results 141 to 150 of about 1,580,164 (331)

Exploratory Analysis of ELP1 Expression in Whole Blood From Patients With Familial Dysautonomia

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background Familial dysautonomia (FD) is a hereditary neurodevelopmental disorder caused by aberrant splicing of the ELP1 gene, leading to a tissue‐specific reduction in ELP1 protein expression. Preclinical models indicate that increasing ELP1 levels can mitigate disease manifestations.
Alejandra González‐Duarte, Lucy Norcliffe‐Kaufmann, Maria Luisa Cotrina, Zenith Khan, Kaia Dalamo, Patricio Millar Vernetti, Matthew Lawless, Elisabetta Morini, Monica Salani, Marla Weetall, Jana Narasimhan, Agostino G. Rocha, Susan A. Slaugenhaupt, Horacio Kaufmann   +13 more
wiley   +1 more source

Age‐Related Characteristics of SYT1‐Associated Neurodevelopmental Disorder

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objectives We describe the clinical manifestations and developmental abilities of individuals with SYT1‐associated neurodevelopmental disorder (Baker‐Gordon syndrome) from infancy to adulthood. We further describe the neuroradiological and electrophysiological characteristics of the condition at different ages, and explore the associations ...
Sam G. Norwitz, Josefine Eck, Joel S. Winston, Kate Baker   +3 more
wiley   +1 more source

Primary lymphoproliferative diseases of the central nervous system

Терапевтический архив, 2009
Primary CNS lymphomas have worse prognosis than other extranodal lymphomas: remissions are rare, recurrences are frequent. Literature is analysed on diagnosis, prognostic factors, perspectives and problems of treatment of primary CNS lymphomas.
ndrey Vladimirovich Gubkin, Evgeniy Evgen'evich Zvonkov, Aleksandra Mikhaylovna Kremenetskaya, Sergey Kirillovich Kravchenko, Andrey Ivanovich Vorob'ev, A V Gubkin, E E Zvonkov, A M Kremenetskaya, S K Kravchenko, A I Vorobyev   +9 more
doaj  

The Gut-Microglia Connection: Implications for Central Nervous System Diseases

Frontiers in Immunology, 2018
The importance of the gut microbiome in central nervous system (CNS) diseases has long been recognized; however, research into this connection is limited, in part, owing to a lack of convincing mechanisms because the brain is a distant target of the gut.
Yiliang Wang, Zhaoyang Wang, Yun Wang, Feng Li, Jiaoyan Jia, Xiaowei Song, Shurong Qin, Rongze Wang, Fujun Jin, K. Kitazato, Yifei Wang   +10 more
semanticscholar   +1 more source

Functional Connectivity Linked to Cognitive Recovery After Minor Stroke

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Patients with minor stroke exhibit slowed processing speed and generalized alterations in functional connectivity involving frontoparietal cortex (FPC). The pattern of connectivity evolves over time. In this study, we examine the relationship of functional connectivity patterns to cognitive performance, to determine ...
Vrishab Commuri, Isabella Dallasta, Ciaran Stone, Sophia Girgenti, Neda Gould, Rafael H. Llinas, Jonathan Z. Simon, Elisabeth Breese Marsh   +7 more
wiley   +1 more source

Extracellular proteases and their inhibitors ingenetic diseases of the central nervous system [PDF]

, 2017
Cumulative evidence has shown that a delicate balance between serine proteases and their inhibitors is crucial for normal functioning of several biological pathways.
Colleaux, Laurence, Meskanaite, Virginia, Molinari, Florence, Munnich, Arnold, Sonderegger, Peter   +4 more
core  

Discovery and Targeted Proteomic Studies Reveal Striatal Markers Validated for Huntington's Disease

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Clinical trials for Huntington's disease (HD) enrolling persons before clinical motor diagnosis (CMD) lack validated biomarkers. This study aimed to conduct an unbiased discovery analysis and a targeted examination of proteomic biomarkers scrutinized by clinical validation. Methods Cerebrospinal fluid was obtained from PREDICT‐HD and
Daniel Chelsky, Cara Joyce, H. Jeremy Bockholt, Paul A. Rudnick, William H. Adams, Fiona McAllister, Justin W. Smock, Michael A. Newton, Jane S. Paulsen   +8 more
wiley   +1 more source

Glymphatic system: a gateway for neuroinflammation

Neural Regeneration Research
The glymphatic system is a relatively recently identified fluid exchange and transport system in the brain. Accumulating evidence indicates that glymphatic function is impaired not only in central nervous system disorders but also in systemic diseases ...
Kailu Zou, Qingwei Deng, Hong Zhang, Changsheng Huang   +3 more
doaj   +1 more source

Prognostic Implications of Sleep Architecture for Patients Admitted to the Intensive Care Unit With Status Epilepticus

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Status epilepticus (SE) is associated with significant mortality. Sleep architecture may reflect normal brain function. Impaired sleep architecture is associated with poorer outcomes in numerous conditions. Here we investigate the association of sleep architecture in continuous EEG (cEEG) with survival in SE.
Ran R. Liu, Marcus C. Ng, Gavin P. Winston, Sabrina Schaly, Garima Shukla, Lysa Boissé Lomax   +5 more
wiley   +1 more source

Graphdiyne biomaterials: from characterization to properties and applications

Journal of Nanobiotechnology
Graphdiyne (GDY), the sole synthetic carbon allotrope with sp-hybridized carbon atoms, has been extensively researched that benefit from its pore structure, fully conjugated surfaces, wide band gaps, and more reactive C≡C bonds.
Ling-Xiao Zhao, Yong-Gang Fan, Xue Zhang, Chan Li, Xue-Yan Cheng, Feng Guo, Zhan-You Wang   +6 more
doaj   +1 more source