Cristina Cereda

This study identifies G-quadruplex structures in the SNCA gene and demonstrates their modulation using ligands and peptide nucleic acids to lower alpha-synuclein expression.

The paper analyzes 27 Italian GLUT1DS patients, identifying 10 novel variants and correlating mutation types with clinical severity.

The paper compares TDP-43's transcriptional and splicing effects in muscle and neuronal cells, showing tissue-specific roles in disease.

The paper analyzes genomic data from Indigenous groups in Panama to reveal pre-Hispanic demographic changes and the genetic structure of the Isthmo-Colombian area.

The paper compares RNA profiles in plasma-derived large and small extracellular vesicles from neurodegenerative disease patients and healthy controls, identifying disease-specific miRNA signatures.

This study shows that TDP-43 deficiency leads to R-loop accumulation and DNA damage, linking ALS pathology to R-loop homeostasis.