Results 91 to 100 of about 80,540 (232)

Cracking the Code: Genotype–Phenotype Correlation Models in Sarcoglycanopathies

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Sarcoglycanopathies are among the most severe limb‐girdle muscular dystrophies (LGMD), though milder presentations have been described. These diseases are primarily caused by missense variants, but the limited predictability of their effect on protein maturation, complex formation, and transport has hindered reliable genotype ...
Leonela Luce, Goknur Selen Kocak, José Verdú‐Díaz, Jorge Alonso‐Pérez, Kristl G. Claeys, Tanya Stojkovic, Gorka Fernández‐Eulate, Pascal Laforêt, Najoua Miladi, Filipe Di Pace, Cristiane Araujo Martins Moreno, Edmar Zanoteli, Conrad C. Weihl, Volker Straub, Ana Töpf, Jordi Díaz‐Manera, Sarcoglycan European Cohort Consortium, Adele D′Amico, Adolfo López de Munain, Alicia Alonso‐Jiménez, Ana Camacho‐Salas, Andrea Gangfuß, Andrés Nascimento, Anna Sarkozy, Anneke J. van der Kooi, Arturo Fraga‐Bau, Béla Melegh, Benedikt Schoser, Bjarne Udd, Blaz Koritnik, Carlos Ortez, Chiara Marini Bettolo, Chiara Panicucci, Claudia Weiss, Claudio Bruno, Claudio Semplicini, Cristina Dominguez‐González, Cristina Garrido, David Gómez‐Andrés, Edoardo Malfatti, Elena Pegoraro, Elke De Vos, Francina Munell, Gabriele Dekomien, Giacomo Pietro Comi, Giorgio Tasca, Isabelle Richard, Jan L. De Bleecker, Jana Haberlová, Jesper Helbo Storgaard, Johanna Palmio, John Vissing, Juan Carlos de Leon‐Hernández, Kinga Hadzsiev, Laura Costa‐Comellas, Lea Leonardis, Leroy ten Dam, Lidia González‐Quereda, Luca Bello, Luisa Politano, Manuela Santos, Marianne de Visser, Marie Rohlenová, Matteo Garibaldi, Michela Guglieri, Nicolas Deconinck, Nicoline Løkken, Omar Abdel‐Mannan, Pia Gallano, Roberto Fernández‐Torrón, Ulrike Schara‐Schmidt, Vincenzo Nigro, Vittoria Zangaro   +72 more
wiley   +1 more source

Compatibility of divertor detachment and ELM suppression in DIII-D high- plasmas with ITER-similar shape

Nuclear Fusion
Integration of transient and steady-state divertor heat fluxes control with a high-performance core is necessary for future fusion reactors. In recent DIII-D high- ${\beta _{\text{p}}}$ experiments, divertor detachment and simultaneous edge localized ...
D.G. Wu, L. Wang, H.Q. Wang, A.M. Garofalo, X.Z. Gong, S. Ding, Y.F. Wang, H. Lan, N. Yan, J. McClenaghan, D.B. Weisberg, A.W. Hyatt, T.H. Osborne, D. Eldon, M.E. Fenstermacher, F. Scotti, Q.Q. Yang, J. Huang, J.P. Qian, K.D. Li, J.B. Liu   +20 more
doaj   +1 more source

Effectiveness of rTMS on Working Memory and Inhibitory Impairments in Patients With Post‐Stroke Executive Deficits

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Considerable efforts have been dedicated to developing effective treatments for post‐stroke executive impairment (PSEI), among which repetitive transcranial magnetic stimulation (rTMS) has shown great potential. This study aimed to investigate the therapeutic effects of high‐frequency rTMS on working memory (WM) and response ...
Mengting Lao, Rongwei Du, Zhujun Wang, Yang Gao, Meiling Cheng, Xianglong Wang, Wen Wu   +6 more
wiley   +1 more source

How turbulence spreading improves power handling in quiescent high confinement fusion plasmas

Communications Physics
Viable magnetic fusion devices necessitate combining good confinement with effective power flux handling. A major concern for ITER, and devices beyond, is the divertor heat load width, which sets peak boundary heat loads on the plasma-facing materials ...
Zeyu Li, Xi Chen, Patrick. H. Diamond, Xueqiao Xu, Xijie Qin, Huiqian Wang, Filippo Scotti, Rongjie Hong, Guanying Yu, Zheng Yan, Filipp Khabanov, George R. McKee   +11 more
doaj   +1 more source

Histogram-Derived MREPT connectome: A distribution-Aware framework for brain network analysis

Neuroscience Informatics
Conventional magnetic resonance electrical properties tomography (MREPT) has primarily focused on reconstructing conductivity maps and comparing mean regional values.
Geon-Ho Jahng, Mun Bae Lee, Oh-In Kwon
doaj   +1 more source

Prodromal Lewy Body Disorder Features in REM Sleep Behavior Disorder With Biomarker‐Defined Synucleinopathy

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Isolated rapid eye movement sleep behavior disorder (iRBD) is a prodromal state for Lewy body disorders and exhibits biological heterogeneity that may influence clinical expression and progression. We examined clinical features in individuals with iRBD and biomarker‐defined synucleinopathy.
Daniel Weintraub, Michele K. York, Roseanne Dobkin, Anuprita R. Nair, Ryan Kurth, David‐Erick Lafontant, Chelsea Caspell‐Garcia, Roy N. Alcalay, Ethan G. Brown, Lana M. Chahine, Christopher Coffey, Tatiana Foroud, Douglas Galasko, Karl Kieburtz, Kenneth Marek, Kalpana Merchant, Brit Mollenhauer, Kathleen L. Poston, Andrew Siderowf, Cristina Simonet, Tanya Simuni, Caroline M. Tanner, Thomas F. Tropea, Aleksandar Videnovic, The Parkinson's Progression Markers Initiative   +24 more
wiley   +1 more source

Large-Scale Model-Enhanced Vision-Language Navigation: Recent Advances, Practical Applications, and Future Challenges

Sensors
The ability to autonomously navigate and explore complex 3D environments in a purposeful manner, while integrating visual perception with natural language interaction in a human-like way, represents a longstanding research objective in Artificial ...
Zecheng Li, Xiaolin Meng, Xu He, Youdong Zhang, Wenxuan Yin   +4 more
doaj   +1 more source

Spatial and Volumetric Characteristics of Glioblastoma: Associations With Clinical Presentation and Survival

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective We aim to comprehensively analyze how regional tumor and edema characteristics are associated with clinical presentations and survival outcomes in a large cohort of glioblastoma patients. Methods Patients with IDH‐wildtype glioblastoma who received brain MRI from 2010 to 2023 were included.
Daniel J. Zhou, Marc Jaskir, Julian Gal, Yombe Fonkeu, Christos Davatzikos, MacLean P. Nasrallah, Jose Garcia, Rubo Xing, Stephen J. Bagley, Arati Desai, Richard E. Phillips, Steven Tobochnik, Colin A. Ellis, James J. Gugger, Nishant Sinha, Joel M. Stein, Kathryn A. Davis   +16 more
wiley   +1 more source

Core-edge integrated modeling of ARC: on the effect of impurity transport and detachment conditions

Integrated modeling of ARC H-modes has been conducted to assess the feasibility of high-performance scenarios compatible with divertor detachment. The analysis incorporates self-consistent evolution of impurity radiation and density profiles, demonstrating that fusion power levels approaching a GW can be achieved while maintaining divertor temperatures
Muraca, Marco, Rodriguez-Fernandez, Pablo, Howard, Nathaniel T., Hall, Joe, Tardini, Giovanni, Silvagni, Davide, Body, Thomas, Hillesheim, Jon   +7 more
openaire   +1 more source

Plasma EV Proteomics Identifies ECM Remodeling and Inflammatory Proteins LUM and C7 as Candidate Biomarkers in FSHD

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Facioscapulohumeral muscular dystrophy (FSHD) is one of the most debilitating and common muscular dystrophies. Despite its severity, no approved therapy exists for FSHD patients. However, several therapeutic candidates are currently under development, and some have recently entered clinical trials, marking the need for reliable ...
Mustafa Bilal Bayazit, Chiranth K. Nagaraj, Jackson S. Newell, Kim Truc Nguyen, Xilal Y. Rima, Jacob Doon‐Ralls, Eduardo Reátegui, Jeffrey M. Statland, Rabi Tawil, Kevin M. Flanigan, Scott Q. Harper, Nizar Y. Saad   +11 more
wiley   +1 more source