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Non-syndromic recessive auditory neuropathy is the result of mutations in the otoferlin (OTOF) gene.
PMID: 12525542 [PubMed - indexed for MEDLINE]
PMCID: PMC1735255
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Cited by 10 PubMed Central articles
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Impairment of SLC17A8 encoding vesicular glutamate transporter-3, VGLUT3, underlies nonsyndromic deafness DFNA25 and inner hair cell dysfunction in null mice.
Ruel J, Emery S, Nouvian R, Bersot T, Amilhon B, Van Rybroek JM, Rebillard G, Lenoir M, Eybalin M, Delprat B, et al.
Am J Hum Genet. 2008 Aug; 83(2):278-92.
[Am J Hum Genet. 2008]
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A missense mutation in the conserved C2B domain of otoferlin causes deafness in a new mouse model of DFNB9.
Longo-Guess C, Gagnon LH, Bergstrom DE, Johnson KR.
Hear Res. 2007 Dec; 234(1-2):21-8. Epub 2007 Sep 29.
[Hear Res. 2007]
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ReviewThe potential role of endogenous stem cells in regeneration of the inner ear.
Martinez-Monedero R, Oshima K, Heller S, Edge AS.
Hear Res. 2007 May; 227(1-2):48-52. Epub 2007 Jan 20.
[Hear Res. 2007]
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