Rotem Orbach

The recurrent deep intronic pseudoexon-inducing variant <i>COL6A1</i> c.930+189C&gt;T results in a consistently severe phenotype of COL6-related dystrophy: Towards clinical trial readiness for splice-modulating therapy

Recurrent<i>de-novo gain-of-function</i>mutation in<i>SPTLC2</i>confirms dysregulated sphingolipid production to cause juvenile amyotrophic lateral sclerosis