Exome sequencing: an efficient diagnostic tool for complex neurodegenerative disorders

nork 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
Argitaratua izan da Eur J Neurol (2012)

Mutations in GBA2 Cause Autosomal-Recessive Cerebellar Ataxia with Spasticity

nork 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.
Argitaratua 2013

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

nork 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.
Argitaratua izan da Neurodegener Dis (2017)