| Title : ABHD16A deficiency causes a complicated form of hereditary spastic paraplegia associated with intellectual disability and cerebral anomalies - Lemire_2021_Am.J.Hum.Genet__ |
| Author(s) : Lemire G , Ito YA , Marshall AE , Chrestian N , Stanley V , Brady L , Tarnopolsky M , Curry CJ , Hartley T , Mears W , Derksen A , Rioux N , Laflamme N , Hutchison HT , Pais LS , Zaki MS , Sultan T , Dane AD , Gleeson JG , Vaz FM , Kernohan KD , Bernard G , Boycott KM |
| Ref : American Journal of Human Genetics , : , 2021 |
| Abstract : |
| PubMedSearch : Lemire_2021_Am.J.Hum.Genet__ |
| PubMedID: 34587489 |
| Gene_locus related to this paper: human-ABHD16A |
| 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 |