Results 41 to 50 of about 2,229 (260)

RNA Sequencing Resolves Cryptic Pathogenic Variants in Mitochondrial Disease

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Mitochondrial diseases are the most common inherited metabolic disorders, characterized by pronounced clinical and genetic heterogeneity that complicates molecular diagnosis. Although DNA‐based sequencing approaches have become standard in genetic testing, up to half of patients remain without a definitive diagnosis.
Zhimei Liu, Xin Duan, Fatemeh Peymani, Jia Wang, Chengjia Bao, Chaolong Xu, Ying Zou, Zixuan Zhang, Yunxi Zhang, Tongyue Li, Martin Pavlov, Junling Wang, Minhan Song, Tianyu Song, Xiaodi Han, Mingxi Sun, Danmin Shen, Ruoyu Duan, Huafang Jiang, Manting Xu, Holger Prokisch, Fang Fang   +21 more
wiley   +1 more source

Effects of edge-localized electron cyclotron current drive on edge-localized mode suppression by resonant magnetic perturbations in DIII-D

Nuclear Fusion
According to recent DIII-D experiments (Logan et al 2024 Nucl. Fusion 64 014003), injecting edge localized electron cyclotron current drive (ECCD) in the counter-plasma-current (counter- I _p ) direction reduces the n = 3 resonant magnetic perturbation ...
Q.M. Hu, N.C. Logan, Q. Yu, A. Bortolon
doaj   +1 more source

Anti‐CD19 CAR T Cells in Autoimmune Encephalitis: Inflammation Controlled, Neurodegeneration Unchecked?

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Just recently, successful chimeric antigen receptor (CAR) T cell therapy was reported in the first patient with refractory, anti‐diacylglycerol lipase alpha (DAGLA) antibody‐mediated autoimmune encephalitis, achieving partial clinical remission.
Dimitrios Mougiakakos, Marwa Al‐Dubai, Denise Walther, Dominic Borie, Jan D. Lünemann, Marc Pawlitzki, Sven G. Meuth, Solveig Henneicke, Stefan Vielhaber, Stefanie Schreiber   +9 more
wiley   +1 more source

Influence of rotating resonant magnetic perturbations on particle confinement [PDF]

Nuclear Fusion, 2014
The effect of resonant magnetic perturbations (RMPs) on particle confinement is studied in J-TEXT tokamak by using externally applied rotating RMPs. It is found that RMPs cause improved (degraded) particle confinement when its frequency is higher (lower) than the natural m/n = 2/1 tearing mode frequency, and the amount of change in electron density is ...
Hu, Q., Yu, Q., Wang, N., Shi, P., Yi, B., Ding, Y., Rao, B., Chen, Z., Gao, L., Hu, X., Jin, H., Li, M., Li, J., Yu, K., Zhuang, G.   +14 more
openaire   +2 more sources

Prominent Movement Disorders in RNU2‐2‐Related Spliceosomopathy

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Pediatric movement disorders often overlap with neurodevelopmental diseases, suggesting shared molecular mechanisms. Variants in small nuclear RNA (snRNA) genes encoding spliceosome components have recently been associated with neurodevelopmental disorders, termed “RNUopathies.” We analyzed genome sequencing data from 14 patients with ...
Magdalena Krygier, Ugo Sorrentino, Matias Wagner, Marta Zawadzka, Anna Lemska, Maria Mazurkiewicz‐Bełdzińska, Michael Zech   +6 more
wiley   +1 more source

Impact of error fields and error field correction on heat fluxes in SPARC

Nuclear Fusion
Using a single toroidal array of coils to reduce the $m,n = 2,1$ resonant error field (EF) produced by the misalignment of the axisymmetric coils in SPARC can result in the enhancement of the local divertor heat fluxes. Managing high divertor heat fluxes
S. Munaretto, A. Kleiner, R.M. Churchill, D. Corona, T. Looby, M. Scotto d’Abusco, A. Wingen   +6 more
doaj   +1 more source

Strong atmospheric disturbances as a possible origin of inner zone particle diffusion [PDF]

Annales Geophysicae, 1999
A new mechanism of the atmosphere-magnetosphere interaction, which might be called "acoustic-magnetospheric cyclotron accelerator", is proposed.
O. A. Pokhotelov, V. A. Pilipenko, M. Parrot   +2 more
doaj   +1 more source

Neurochemical Endpoints to Inform Early‐Stage Trials of Spinocerebellar Ataxia 2 and 3 in a Multisite Setting

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Neurochemical levels measured by brain MR spectroscopy (MRS) have been proposed as endpoints for clinical trials in early‐stage spinocerebellar ataxia (SCA) trials. We tested their trial‐readiness by quantifying neurochemicals in three affected brain regions in early‐stage cohorts of SCA2 and SCA3, examining their reproducibility in ...
James M. Joers, Yaqiao Wei, Dinesh K. Deelchand, Adam Berrington, Young Woo Park, Guita Banan, Michal Povazan, Jens T. Rosenberg, André J. W. van der Kouwe, Tetsuo Ashizawa, Khalaf O. Bushara, Chiadi U. Onyike, Sub H. Subramony, Jeremy D. Schmahmann, Brian J. Soher, Peter B. Barker, Thomas H. Mareci, Eva‐Maria Ratai, Lynn E. Eberly, Gülin Öz   +19 more
wiley   +1 more source

Progress towards edge-localized mode suppression via magnetic perturbations in hydrogen plasmas

Nuclear Fusion
The suppression of edge-localized modes (ELMs) by applying resonant magnetic perturbations (RMPs) is well studied in low collisionality deuterium plasmas as a measure to reduce transient divertor heat loads.
N. Leuthold, W. Suttrop, C. Paz-Soldan, M.G. Dunne, R. Fischer, E. Hinson, M. Knolker, F. Laggner, N.C. Logan, T. Osborne, D. Orlov, L. Schmitz, M. Shafer, M. Willensdorfer, the ASDEX Upgrade Team, the EUROfusion MST1 Team   +15 more
doaj   +1 more source

Effects 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 more
wiley   +1 more source