A. Munich

发表

A rare recessive distal hereditary motor neuropathy with HSJ1 chaperone mutation

S. Blumen, R. Carasso, N. Blumen, 2012, Annals of neurology.

A nonsense variant in HERC1 is associated with intellectual disability, megalencephaly, thick corpus callosum and cerebellar atrophy

Sébastien Moutton, Nathalie Boddaert, Lam Son Nguyen, 2015, European Journal of Human Genetics.