Mutations in GBA2 Cause Autosomal-Recessive Cerebellar Ataxia with Spasticity

Tekijä Hammer, Monia B., Eleuch-Fayache, Ghada, Schottlaender, Lucia V., Nehdi, Houda, Gibbs, J. Raphael, Arepalli, Sampath K., Chong, Sean B., Hernandez, Dena G., Sailer, Anna, Liu, Guoxiang, Mistry, Pramod K., Cai, Huaibin, Shrader, Ginamarie, Sassi, Celeste, Bouhlal, Yosr, Houlden, Henry, Hentati, Fayçal, Amouri, Rim, Singleton, Andrew B.
Julkaistu 2013

SLC25A46 mutations associated with Autosomal Recessive Cerebellar Ataxia in North African families

Tekijä Hammer, Monia B., Ding, Jinhui, Mochel, Fanny, Eleuch-Fayache, Ghada, Charles, Perrine, Coutelier, Marie, Gibbs, J. Raphael, Arepalli, Sampath K., Chong, Sean B., Hernandez, Dena G., Majounie, Elisa, Clipman, Steven, Bouhlal, Yosr, Nehdi, Houda, Brice, Alexis, Hentati, Faycal, Stevanin, Giovanni, Amouri, Rim, Durr, Alexandra, Singleton, Andrew B.
Julkaisussa Neurodegener Dis (2017)