Exome sequencing: an efficient diagnostic tool for complex neurodegenerative disorders

Por Hammer, Monia B, Eleuch-Fayache, Ghada, Gibbs, J Raphael, Arepalli, Sampath K, Chong, Sean B, Sassi, Celeste, Bouhlal, Yosr, Hentati, Fayçal, Amouri, Rim, Singleton, Andrew B
Publicado no Eur J Neurol (2012)

Mutations in GBA2 Cause Autosomal-Recessive Cerebellar Ataxia with Spasticity

Por 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.
Publicado em 2013

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

Por 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.
Publicado no Neurodegener Dis (2017)