Results 291 to 300 of about 755,873 (344)
Genome‐Wide Insights and Polygenic Risk Scores in Common Epilepsies: A Narrative Review
American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.ABSTRACT The research of single gene‐related disorders or pathogenic copy‐number variations (CNVs) has given a significant impetus to the shift from a diagnostic work‐up focused on epileptic syndromes to genomic approaches in individuals with severe pediatric‐onset epilepsies and in developmental and epileptic encephalopathies.
Mario Mastrangelo +5 more
wiley +1 more source
m6A Methylation‐Induced Autophagy Impairment by TFEB Regulation in SOD1‐G93A ALS Cell Model
American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.ABSTRACT We investigate the role of m6A RNA methylation in regulating transcription factor EB (TFEB) and its contribution to mitochondrial autophagy (mitophagy) dysfunction in amyotrophic lateral sclerosis (ALS). ALS cell models were used to analyse mitophagy markers and TFEB expression under METTL3 and TFEB modulation, using RT‐qPCR, Western blot ...
Di An +7 more
wiley +1 more source
Relevance of choroid plexus volumes in multiple sclerosis. [PDF]
Fluids Barriers CNSKrieger B +11 more
europepmc +1 more source
Brain-derived blood biomarkers in multiple sclerosis-current trends and beyond. [PDF]
Front ImmunolAnandan S +6 more
europepmc +1 more source
Oral Manifestations of Multiple Sclerosis: A Systematic Review. [PDF]
J Clin MedGarcía-Rios P +2 more
europepmc +1 more source