TY  - GEN
AU  - Martin,Elodie
AU  - Schüle,Rebecca
AU  - Smets,Katrien
AU  - Rastetter,Agnès
AU  - Boukhris,Amir
AU  - Loureiro,José L
AU  - Gonzalez,Michael A
AU  - Mundwiller,Emeline
AU  - Deconinck,Tine
AU  - Wessner,Marc
AU  - Jornea,Ludmila
AU  - Oteyza,Andrés Caballero
AU  - Durr,Alexandra
AU  - Martin,Jean-Jacques
AU  - Schöls,Ludger
AU  - Mhiri,Chokri
AU  - Lamari,Foudil
AU  - Züchner,Stephan
AU  - De Jonghe,Peter
AU  - Kabashi,Edor
AU  - Brice,Alexis
AU  - Stevanin,Giovanni
TI  - Loss of function of glucocerebrosidase GBA2 is responsible for motor neuron defects in hereditary spastic paraplegia
SN  - 1537-6605
PY  - 2013///0404
KW  - Adolescent
KW  - Adult
KW  - Aged
KW  - Animals
KW  - Brain
KW  - pathology
KW  - Child
KW  - Child, Preschool
KW  - Family
KW  - Female
KW  - Glucosylceramidase
KW  - Humans
KW  - Infant
KW  - Male
KW  - Middle Aged
KW  - Motor Neurons
KW  - Mutation
KW  - genetics
KW  - Neuroimaging
KW  - Pedigree
KW  - Spastic Paraplegia, Hereditary
KW  - enzymology
KW  - Young Adult
KW  - Zebrafish
KW  - Zebrafish Proteins
KW  - beta-Glucosidase
N1  - Publication Type: Journal Article; Research Support, Non-U.S. Gov't
UR  - https://doi.org/10.1016/j.ajhg.2012.11.021
ER  -