Articles with "homozygous gba2" as a keyword



Photo from wikipedia

Novel homozygous GBA2 mutation in a patient with complicated spastic paraplegia

Sign Up to like & get
recommendations!
Published in 2018 at "Clinical Neurology and Neurosurgery"

DOI: 10.1016/j.clineuro.2018.02.042

Abstract: Hereditary spastic paraplegias (HSPs) are a heterogeneous group of neurological disorders characterized primarily by a pyramidal syndrome with lower limb spasticity, which can manifest as pure HSP or associated with a number of neurological or… read more here.

Keywords: novel homozygous; homozygous gba2; mutation; spastic paraplegia ... See more keywords