Results 181 to 190 of about 1,098,495 (316)
Annals of Clinical and Translational Neurology, EarlyView.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
Sex Differences in ER Stress Pathways Are a Key Determinant of β-Cell Proliferation and Resilience. [PDF]
DiabetesChen SY, Rideout EJ, Johnson JD.
europepmc +1 more source
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 +72 more
wiley +1 more source
CsmR controls both, motility and cell shape, in Haloferax volcanii. [PDF]
PLoS GenetNußbaum P +12 more
europepmc +1 more source
SPG4 and Dementia: Expanding the Clinical Spectrum
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Hereditary spastic paraplegia (HSP) is a group of disorders characterized by progressive spasticity and lower limb weakness, with mutations in SPG4/SPAST being the most common cause. Detailed studies and clinical and molecular comparisons across different populations are missing.
Emanuele Panza +19 more
wiley +1 more source
Multi-Agent Simulation of Emergence of Schwa Deletion Pattern in Hindi [PDF]
Recently, there has been a revival of interest in multi-agent simulation techniques for exploring the nature of language change. However, a lack of appropriate validation of simulation experiments against real language data often calls into question the ...
Anupam Basu +2 more
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ALDOA Promotes Glycolysis and NLRP3/GSDMD Pyroptosis to Accelerate ALS Progression
Annals of Clinical and Translational Neurology, EarlyView.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
Catatonia associated with mosaic 18q deletion syndrome: a case report. [PDF]
BMC PsychiatryHerscheid AL, Franke C, Cosma NC.
europepmc +1 more source