Results 51 to 60 of about 3,138 (265)

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

Quantifying resonant drive in resistive perturbed tokamak equilibria

Nuclear Fusion
Resonant drive in tokamaks is routinely quantified using a variety of different metrics that target different aspects of a resonant response to an external perturbation. Two of the most direct metrics, $\Delta_{mn}$ and $b_\mathrm{pen}$ , are widely used
M. Pharr, N.C. Logan, C. Paz-Soldan, J.-K. Park   +3 more
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

2D heat flux in ASDEX Upgrade L-Mode with magnetic perturbation

Nuclear Materials and Energy, 2017
Power exhaust is one of the major challenges for a future fusion device like ITER. Future devices are foreseen to operate in a regime that exhibits periodic outbursts of particles and energy, so called edge localised modes (ELMs).
M. Faitsch, B. Sieglin, T. Eich, A. Herrmann, W. Suttrop   +4 more
doaj   +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

Nonlinear modeling of ELM mitigation with RMP on HL-2A

Nuclear Fusion
Nonlinear modeling of mitigation of the edge localized mode (ELM) with resonant magnetic perturbation (RMP) is performed for the HL-2A tokamak, utilizing the three-dimensional (3D) magnetohydrodynamic code JOREK.
L. Wang, G.Z. Hao, M. Becoulet, Y.Q. Liu, Y.H. Xu, J.Q. Li, P.F. Zheng, D. Hu, S.L. Hu, G.Q. Dong, S. Wang, X.X. He, T.F. Sun, G.T.A. Huijsmans, W.L. Zhong, the JOREK Team   +15 more
doaj   +1 more source

Transport and acceleration mechanism of fast ions during edge localized modes in ASDEX Upgrade

Nuclear Fusion, 2023
Observations of enhanced fast-ion losses during edge localized modes (ELMs) have been reported in the ASDEX Upgrade tokamak, revealing losses above the injection energy. This suggests that fast ions can be accelerated and lost due to the ELMs.
J.F. Rivero-Rodríguez, J. Galdon-Quiroga, J. Domínguez-Palacios, M. García-Muñoz, D. Garcia-Vallejo, J. Gonzalez-Martin, K.G. McClements, L. Sanchís, K. Särkimäki, A. Snicker, Y. Todo, L. Velarde, E. Viezzer, the ASDEX Upgrade Team   +13 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

Resonant Absorption and Fluctuations via Hybrid Simulations on Coronal Loops. I. Plasma Multifluid Description

The Astrophysical Journal
We investigate the resonant absorption process of a combination of left- and right-hand polarized waves (with a fixed perturbation amplitude) in a plasma slab with linearly inhomogeneous particle densities.
Hugo A. Carril, Jaume Terradas, Roberto E. Navarro, Adolfo F. Viñas, Marcel Goossens   +4 more
doaj   +1 more source