Refinement of Molecular Diagnostic Protocol of Auditory Neuropathy Spectrum Disorder: Disclosure of Significant Level of Etiologic Homogeneity in Koreans and Its Clinical Implications.

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ATP1A3 mutations can cause progressive auditory neuropathy: a new gene of auditory synaptopathy.

P2860

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P2860

Refinement of Molecular Diagnostic Protocol of Auditory Neuropathy Spectrum Disorder: Disclosure of Significant Level of Etiologic Homogeneity in Koreans and Its Clinical Implications.

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2015 nî lūn-bûn

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2015年の論文

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2015年学术文章

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Refinement of Molecular Diagno ...... and Its Clinical Implications.

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Refinement of Molecular Diagno ...... and Its Clinical Implications.

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Refinement of Molecular Diagno ...... and Its Clinical Implications.

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Refinement of Molecular Diagno ...... and Its Clinical Implications.

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Refinement of Molecular Diagno ...... and Its Clinical Implications.

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Refinement of Molecular Diagno ...... and Its Clinical Implications.

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P1476

Refinement of Molecular Diagno ...... and Its Clinical Implications.

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P2093

Ah Reum Kim

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Byung Yoon Choi

http://www.w3.org/2001/XMLSchema#string

Chung Lee

http://www.w3.org/2001/XMLSchema#string

Mun Young Chang

http://www.w3.org/2001/XMLSchema#string

Nayoung K D Kim

http://www.w3.org/2001/XMLSchema#string

P2860

A mutation in OTOF, encoding otoferlin, a FER-1-like protein, causes DFNB9, a nonsyndromic form of deafness

OTOF encodes multiple long and short isoforms: genetic evidence that the long ones underlie recessive deafness DFNB9.

OTOF mutations revealed by genetic analysis of hearing loss families including a potential temperature sensitive auditory neuropathy allele

Non-syndromic recessive auditory neuropathy is the result of mutations in the otoferlin (OTOF) gene

Otoferlin, defective in a human deafness form, is essential for exocytosis at the auditory ribbon synapse

A multicenter study on the prevalence and spectrum of mutations in the otoferlin gene (OTOF) in subjects with nonsyndromic hearing impairment and auditory neuropathy

Rab8b GTPase, a protein transport regulator, is an interacting partner of otoferlin, defective in a human autosomal recessive deafness form

Differential expression of otoferlin in brain, vestibular system, immature and mature cochlea of the rat

Calcium- and otoferlin-dependent exocytosis by immature outer hair cells

Mutations in the gene encoding pejvakin, a newly identified protein of the afferent auditory pathway, cause DFNB59 auditory neuropathy

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e1996

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scholarly article

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10.1097/MD.0000000000001996

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English

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Woong-Yang Park

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2015-11-01T00:00:00Z

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26632695

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Auditory neuropathy spectrum disorder

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5058964

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Refinement of Molecular Diagnostic Protocol of Auditory Neuropathy Spectrum Disorder: Disclosure of Significant Level of Etiologic Homogeneity in Koreans and Its Clinical Implications.

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P2860

P2860

Refinement of Molecular Diagnostic Protocol of Auditory Neuropathy Spectrum Disorder: Disclosure of Significant Level of Etiologic Homogeneity in Koreans and Its Clinical Implications.

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