RNA Sequencing Resolves Cryptic Pathogenic Variants in Mitochondrial Disease
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 +21 more
wiley +1 more source
Dual Priority Scheduling is Not Optimal.
In dual priority scheduling, periodic tasks are executed in a fixed-priority manner, but each job has two phases with different priorities. The second phase is entered after a fixed amount of time has passed since the release of the job, at which point the job changes its priority.
openaire +4 more sources
An optimal scheduling method of integrated energy system in industrial parks considering carbon trading and electric vehicle charging load. [PDF]
Wendong H +6 more
europepmc +1 more source
ABSTRACT Background Cognitive impairment is a common non‐motor symptom in Multiple Sclerosis (MS), negatively affecting autonomy and Quality of Life (QoL). Innovative rehabilitation strategies, such as semi‐immersive virtual reality (VR) and computerized cognitive training (CCT), may offer advantages over traditional cognitive rehabilitation (TCR ...
Maria Grazia Maggio +8 more
wiley +1 more source
An Exergy-Enhanced Improved IGDT-Based Optimal Scheduling Model for Electricity-Hydrogen Urban Integrated Energy Systems. [PDF]
Xie M, Qing L, Ye JN, Lu YX.
europepmc +1 more source
Early Clinical, Imaging, and Pathological Characteristics of SRPK3/TTN‐Digenic Myopathy
ABSTRACT Objective SRPK3/TTN‐digenic myopathy was recently established as a skeletal muscle myopathy caused by digenic inheritance. This study characterizes the early clinical presentation of SRPK3/TTN‐digenic myopathy in one previously reported and seven newly identified pediatric patients.
Rotem Orbach +23 more
wiley +1 more source
Classified modeling and day-ahead optimal scheduling of multi-type adjustable industrial loads in industrial microgrid using improved approximate dynamic programming. [PDF]
Sun T +5 more
europepmc +1 more source
Comparative Effectiveness and Safety of Inebilizumab Versus Rituximab in AQP4‐IgG‐Positive NMOSD
ABSTRACT Objective Rituximab (anti‐CD20, RTX) and inebilizumab (anti‐CD19, INE) represent B‐cell‐depleting therapies used for aquaporin‐4 antibody‐positive (AQP4‐IgG+) neuromyelitis optica spectrum disorder (NMOSD); however, direct comparative evidence remains limited.
Jie Lin +11 more
wiley +1 more source
Retraction: Research on multi-objective optimal scheduling considering the balance of labor workload distribution. [PDF]
PLOS One Editors.
europepmc +1 more source
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 +5 more
wiley +1 more source

