ABSTRACT Objective Super‐Refractory Status Epilepticus (SRSE) is a rare, life‐threatening neurological emergency with unclear etiology in many cases. Mitochondrial dysfunction, often due to disease‐causing genetic variants, is increasingly recognized as a cause, with each gene producing distinct pathophysiological mechanisms.
Pouria Mohammadi +2 more
wiley +1 more source
Long-term degradation of U-values: A dataset of experimental evidence and energy performance consequences. [PDF]
Alkhatib H, Omar OK, Norton B.
europepmc +1 more source
Concept development of a mainstream deammonification and comparison with conventional process in terms of energy, performance and economical construction perspectives. [PDF]
Cheenakula D +3 more
europepmc +1 more source
Epigenetic reprogramming in hematopoietic stem and progenitor cells (HSPCs) and downstream myeloid cells, mediated by H3.3 downregulation and endogenous retroelement (ERE) overexpression, contributes to the progression of multiple sclerosis (MS). ABSTRACT Background Skewed myelopoiesis in the bone marrow has been identified as a key driver of multiple ...
Li‐Mei Xiao +6 more
wiley +1 more source
A spatial typology of energy (in)efficiency in the private rental sector in England and Wales using Energy Performance Certificates. [PDF]
Robinson C +5 more
europepmc +1 more source
On the Energy Performance of Iridium Satellite IoT Technology. [PDF]
Gomez C +3 more
europepmc +1 more source
ALDOA Promotes Glycolysis and NLRP3/GSDMD Pyroptosis to Accelerate ALS Progression
ABSTRACT Objective Amyotrophic lateral sclerosis (ALS) is characterized by progressive motor neuron degeneration. Glycolytic dysregulation is implicated in disease progression, yet the underlying mechanisms remain unclear. This study investigates how Aldolase A (ALDOA) drives ALS progression through glycolysis‐mediated motor neuron pyroptosis.
Kaixin Yan +9 more
wiley +1 more source
Energy Performance of LR-FHSS: Analysis and Evaluation. [PDF]
Sanchez-Vital R +5 more
europepmc +1 more source
Applying modified coot optimization algorithm with artificial neural network meta-model for building energy performance optimization: A case study. [PDF]
You X, Yan G, Thwin M.
europepmc +1 more source
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

