| Title : Mutation in CPT1C Associated With Pure Autosomal Dominant Spastic Paraplegia - Rinaldi_2015_JAMA.Neurol_72_561 |
| Author(s) : Rinaldi C , Schmidt T , Situ AJ , Johnson JO , Lee PR , Chen KL , Bott LC , Fado R , Harmison GH , Parodi S , Grunseich C , Renvoise B , Biesecker LG , De Michele G , Santorelli FM , Filla A , Stevanin G , Durr A , Brice A , Casals N , Traynor BJ , Blackstone C , Ulmer TS , Fischbeck KH |
| Ref : JAMA Neurol , 72 :561 , 2015 |
| Abstract : |
| PubMedSearch : Rinaldi_2015_JAMA.Neurol_72_561 |
| PubMedID: 25751282 |
| Title : Exome sequencing links corticospinal motor neuron disease to common neurodegenerative disorders - Novarino_2014_Science_343_506 |
| Author(s) : Novarino G , Fenstermaker AG , Zaki MS , Hofree M , Silhavy JL , Heiberg AD , Abdellateef M , Rosti B , Scott E , Mansour L , Masri A , Kayserili H , Al-Aama JY , Abdel-Salam GMH , Karminejad A , Kara M , Kara B , Bozorgmehri B , Ben-Omran T , Mojahedi F , El Din Mahmoud IG , Bouslam N , Bouhouche A , Benomar A , Hanein S , Raymond L , Forlani S , Mascaro M , Selim L , Shehata N , Al-Allawi N , Bindu PS , Azam M , Gunel M , Caglayan A , Bilguvar K , Tolun A , Issa MY , Schroth J , Spencer EG , Rosti RO , Akizu N , Vaux KK , Johansen A , Koh AA , Megahed H , Durr A , Brice A , Stevanin G , Gabriel SB , Ideker T , Gleeson JG |
| Ref : Science , 343 :506 , 2014 |
| Abstract : |
| PubMedSearch : Novarino_2014_Science_343_506 |
| PubMedID: 24482476 |