Loss of function of glucocerebrosidase GBA2 is responsible for motor neuron defects in hereditary spastic paraplegia.

Martin, Elodie

Loss of function of glucocerebrosidase GBA2 is responsible for motor neuron defects in hereditary spastic paraplegia. [electronic resource] - American journal of human genetics Feb 2013 - 238-44 p. digital

Publication Type: Journal Article; Research Support, Non-U.S. Gov't

1537-6605

10.1016/j.ajhg.2012.11.021 doi


Adolescent
Adult
Aged
Animals
Brain--pathology
Child
Child, Preschool
Family
Female
Glucosylceramidase
Humans
Infant
Male
Middle Aged
Motor Neurons--pathology
Mutation--genetics
Neuroimaging
Pedigree
Spastic Paraplegia, Hereditary--enzymology
Young Adult
Zebrafish
Zebrafish Proteins--genetics
beta-Glucosidase--genetics