Morgane Stum

Stress response silencing by an E3 ligase mutated in neurodegeneration

Mechanical state transitions in the regulation of tissue form and function

Evidence of a dosage effect and a physiological endplate acetylcholinesterase deficiency in the first mouse models mimicking Schwartz–Jampel syndrome neuromyotonia

Spectrum ofHSPG2(Perlecan) mutations in patients with Schwartz-Jampel syndrome