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splicing modulators reduce 4R tau and rescue tauopathy phenotypes in human neurons and in a mouse model. (opens in a new tab)
Integrating Genetic Modifier Genotype With Serum Proteomics in Duchenne Muscular Dystrophy Clinical Trials Links LTBP4 Genetic Modifier to IL ‐23/ CD93 Pathways in Muscle (opens in a new tab)
Mechanism of age-related accumulation of mtDNA mutations in human blood. (opens in a new tab)
FNIP1 variants are associated with favourable metabolism in 1 million humans. (opens in a new tab)
Rare Biallelic CTU2 Variants in an Individual With CAKUT: Clinical Characterization and Minigene Splicing Analysis. (opens in a new tab)
The Clinical Phenotype and Genetic Analysis of Monogenic Non Syndromic Obesity Caused by MC4R Gene Variation. (opens in a new tab)
Expanding the Genotypic Spectrum of POMGNT1-Related Muscle-Eye-Brain Disease: A Case Report. (opens in a new tab)
Novel Clinical and Neurophysiological Insights in Neonatal-Onset 3-Methylglutaconic Aciduria Type VIII due to HTRA2 Mutations. (opens in a new tab)
N-Terminal Variant p.Ala2Val in X-Linked Dyskeratosis Congenita Gene (DKC1) Disrupts Its Post-Translational Modification and Nucleolar Localization. (opens in a new tab)
PLCG2 downregulation impairs synaptic function and increases Alzheimer's disease hallmarks in neuronal cultures. (opens in a new tab)