| 1 | ADCADN, DNMT1, HSANDHL |
| Defects of mutant DNMT1 are linked to a spectrum of neurological disorders. | |
| Baets J, Duan X, Wu Y, Smith G, Seeley WW, Mademan I, McGrath NM, Beadell NC, Khoury J, Botuyan MV, Mer G, Worrell GA, Hojo K, DeLeon J, Laura M, Liu YT, Senderek J, Weis J, Van den Bergh P, Merrill SL, Reilly MM, Houlden H, Grossman M, Scherer SS, De Jonghe P, Dyck PJ, Klein CJ. | |
| Brain 138(Pt 4):845-61. doi: 10.1093/brain/awv010. Epub 2015 Feb 11. 2015 | |
| 2 | ADCADN, DNMT1 |
| Mutations in DNMT1 cause autosomal dominant cerebellar ataxia, deafness and narcolepsy. | |
| Winkelmann J, Lin L, Schormair B, Kornum BR, Faraco J, Plazzi G, Melberg A, Cornelio F, Urban AE, Pizza F, Poli F, Grubert F, Wieland T, Graf E, Hallmayer J, Strom TM, Mignot E. | |
| Hum Mol Genet 21(10):2205-10. doi: 10.1093/hmg/dds035. Epub 2012 Feb 9. 2012 | |