The Genetics of Tuberous Sclerosis Complex and Related mTORopathies: Current Understanding and Future Directions
A Man, M Di Scipio, S Grewal, Y Suk, E Trinari, R Ejaz… - Genes, 2024 - mdpi.com
The mechanistic target of rapamycin (mTOR) pathway serves as a master regulator of cell
growth, proliferation, and survival. Upregulation of the mTOR pathway has been shown to …
growth, proliferation, and survival. Upregulation of the mTOR pathway has been shown to …
A Prospective, Observational, Non-interventional Clinical Study of Participants With Choroideremia: The NIGHT Study
Purpose The NIGHT study aimed to assess the natural history of choroideremia (CHM), an X-
linked inherited chorioretinal degenerative disease leading to blindness, and determine …
linked inherited chorioretinal degenerative disease leading to blindness, and determine …
[HTML][HTML] Mevalonic Aciduria in a Pediatric Patient: A Case Report and Literature Review of Neuroimaging Findings
Mevalonic aciduria is a rare autosomal recessive disorder resulting from mevalonate kinase
deficiency. Neuroimaging findings associated with the disease have been documented in …
deficiency. Neuroimaging findings associated with the disease have been documented in …