Citations for
1DNM2, SPG69
Adult-onset autosomal dominant spastic paraplegia linked to a GTPase-effector domain mutation of dynamin 2.
Sambuughin N, Goldfarb LG, Sivtseva TM, Davydova TK, Vladimirtsev VA, Osakovskiy VL, Danilova AP, Nikitina RS, Ylakhova AN, Diachkovskaya MP, Sundborger AC, Renwick NM, Platonov FA, Hinshaw JE, Toro C.
BMC Neurol 15:223. doi: 10.1186/s12883-015-0481-3. 2015
2ARL6IP1, ARSI, ERLIN1, FLRT1, KIF1C, PGAP1, RAB3GAP2, SPAX2, SPG59, SPG60, SPG61, SPG62, SPG66, SPG67, SPG68, SPG69, SPG71, USP8, WDR48, ZFR
Exome sequencing links corticospinal motor neuron disease to common neurodegenerative disorders.
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.
Science 343(6170):506-511. doi: 10.1126/science.1247363. 2014