Publications

Guissart C, Li, et al. Mutation of SLC9A1, encoding the major Na+/H+ exchanger, causes ataxia deafness Lichtenstein-Knorr syndrome.Hum Mol Genet. 2015;24(2):463-470. PMID: 25205112.

Iwama K, et al. A novel SLC9A1 mutation causes cerebellar ataxia.J Hum Genet. 2018;63(10):1049-1054. PMID: 30018422.

Fliegel L. Role of Genetic Mutations of the Na+/H+ Exchanger Isoform 1, in Human Disease and Protein Targeting and Activity.Mol Cell Biochem. 2021;476(2):1221-1232. PMID: 33201382.

Hesarur N, et al. Lichtenstein-Knorr Syndrome: A Rare Case of Ataxia with Sensorineural Hearing Loss.Ann Indian Acad Neurol. 2022;25(5):970-973. PMID: 36561016.