Supporting Rare Disease Research with BeHeard 2017
Type
Blog Post
...these devastating afflictions.
Elia Di Schiavi - Spinal muscular atrophy
Dr. Elia Di Schiavi is a Research...Bioresources in Naples, Italy. His group works on spinal muscular atrophy, a disease in which disruption...of the smn1 gene results in the degeneration of spinal cord motor neurons. This disease is estimated to...While disruption of the smn1 gene is known to cause spinal muscular atrophy, the molecular mechanisms behind...clinic and thereby restore motor neuron function in spinal muscular atrophy patients.
Noushin Nabavi - Peritoneal...Systematic review of incidence and prevalence of spinal muscular atrophy (SMA)." European Journal of Paediatric...