Peter Balicza and colleagues conduct a study on known HSP causing genes on patients with Background Hereditary spastic paraplegias (HSPs). They performed sequencing analyses including next generation sequencing and found nine previously unreported mutations with high confidence for pathogenicity.
Balicza, Peter et al. Journal of the Neurological Sciences.
"We were early Alamut adopters and this software has become essential to our daily diagnosis lab practice, saving time and reducing mistakes. The intuitivity of use and the new functionalities are a very useful help in our daily work."
PASCALE RICHARD M.D. Ph.D.