Mutations in GBA2 Cause Autosomal-Recessive Cerebellar Ataxia with Spasticity
Hammer MB, Eleuch-Fayache G, Schottlaender LV, Nehdi H, Gibbs JR, Arepalli SK, Chong SB, Hernandez DG, Sailer A, Liu G, Mistry PK, Cai H, Shrader G, Sassi C, Bouhlal Y, Houlden H, Hentati F, Amouri R, Singleton AB. Mutations in GBA2 Cause Autosomal-Recessive Cerebellar Ataxia with Spasticity. American Journal Of Human Genetics 2013, 92: 245-251. PMID: 23332917, PMCID: PMC3567281, DOI: 10.1016/j.ajhg.2012.12.012.Peer-Reviewed Original Research