Mutation of SLC9A1, encoding the major Na+/H+ exchanger, causes ataxia-deafness Lichtenstein-Knorr syndrome

The Autosomal Recessive Cerebellar Ataxias

(2012) Mathieu Anheim et al.   NEW ENGLAND JOURNAL OF MEDICINE

A framework for variation discovery and genotyping using next-generation DNA sequencing data

(2011) Mark A DePristo et al.   NATURE GENETICS

A syndrome of olivopontocerebellar atrophy and deafness with onset in infancy

(2010) R. Pratap-Chand et al.   ACTA NEUROLOGICA SCANDINAVICA

Mutations in ABHD12 Cause the Neurodegenerative Disease PHARC: An Inborn Error of Endocannabinoid Metabolism

(2010) Torunn Fiskerstrand et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Interferon-γ suppresses Na+-H+exchanger in cultured human endolymphatic sac epithelial cells

(2009) Eun Jin Son et al.   JOURNAL OF CELLULAR BIOCHEMISTRY

Human Splicing Finder: an online bioinformatics tool to predict splicing signals

(2009) François-Olivier Desmet et al.   NUCLEIC ACIDS RESEARCH