| 1 | PUM1, SCA47 |
| Investigating PUM1 mutations in a Taiwanese cohort with cerebellar ataxia. | |
| Lai KL, Liao YC, Tsai PC, Hsiao CT, Soong BW, Lee YC | |
| Parkinsonism Relat Disord. Sep;66:220-223. doi: 10.1016/j.parkreldis.2019.08.004. Epub 2019 Aug 7. 2019 | |
| 2 | PUM1, SCA47 |
| PADDAS syndrome associated with hair dysplasia caused by a de novo missense variant of PUM1. | |
| Bonnemason-Carrere P, Morice-Picard F, Pennamen P, Arveiler B, Fergelot P, Goizet C, Hellegouarch M, Lacombe D, Plaisant C, Raclet V, Rooryck C, Lasseaux E, Trimouille A. | |
| Am J Med Genet A. Jun;179(6):1030-1033. doi: 10.1002/ajmg.a.61127. Epub 2019 Mar 23. 2019 | |
| 3 | PUM1, SCA47 |
| A Mild PUM1 Mutation Is Associated with Adult-Onset Ataxia, whereas Haploinsufficiency Causes Developmental Delay and Seizures. | |
| Gennarino VA, Palmer EE, McDonell LM, Wang L, Adamski CJ, Koire A, See L, Chen CA, Schaaf CP, Rosenfeld JA, Panzer JA, Moog U, Hao S, Bye A, Kirk EP, Stankiewicz P, Breman AM, McBride A, Kandula T, Dubbs HA, Macintosh R, Cardamone M, Zhu Y, Ying K, Dias KR, Cho MT, Henderson LB, Baskin B, Morris P, Tao J, Cowley MJ, Dinger ME, Roscioli T, Caluseriu O, Suchowersky O, Sachdev RK, Lichtarge O, Tang J, Boycott KM, Holder JL Jr, Zoghbi HY. | |
| Cell Feb 22;172(5):924-936.e11. doi: 10.1016/j.cell.2018.02.006. 2018 | |