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& Styszko, K

This has implications for the genetic diagnosis of THAP1 dystonia and supports the use of broader strategies like targeted next generation or whole exome sequencing in this population

Results: FD involves loss of function mutations in SLC40A1 that impair the iron export efficiency of ferroportin leading to iron retention in reticuloendothelial cells and hyperferritinemia with normal TSAT

Since the majority of research uses observational and correlational data, it is challenging to determine whether gut dysbiosis is a direct cause of CVD development or merely an effect of the illness state

Revisiting the concept of drug-resistant epilepsy: A TASK1 report of the ILAE/AES joint translational task force