| 1 | SCAR19, SLC9A1 |
| Mutation of SLC9A1, encoding the major Na⁺/H⁺ exchanger, causes ataxia-deafness Lichtenstein-Knorr syndrome. | |
| Guissart C, Li X, Leheup B, Drouot N, Montaut-Verient B, Raffo E, Jonveaux P, Roux AF, Claustres M, Fliegel L, Koenig M. | |
| Hum Mol Genet 24(2):463-70. doi: 10.1093/hmg/ddu461. Epub 2014 Sep 8. 2015 | |
| 2 | SCAR19, SLC9A1 |
| Hearing loss associated with progressive ataxia (Lichtenstein-Knorr disease?). Report of a sporadic case with peculiar neuroradiological findings. | |
| Striano S, Barbieri F, Meo R, Bilo L, Cirillo S. | |
| Acta Neurol (Napoli) 11(5):351-9. 1989 | |