A dominantly inherited progressive deafness affecting distal auditory nerve and hair cells. - Wikidata - awgldk - TriplyDB

A dominantly inherited progressive deafness affecting distal auditory nerve and hair cells.

A dominantly inherited progressive deafness affecting distal auditory nerve and hair cells.

http://www.wikidata.org/entity/Q30492630

about

Impairment of SLC17A8 encoding vesicular glutamate transporter-3, VGLUT3, underlies nonsyndromic deafness DFNA25 and inner hair cell dysfunction in null mice.Remodeling of the Inner Hair Cell Microtubule Meshwork in a Mouse Model of Auditory Neuropathy AUNA1.ACEMg Diet Supplement Modifies Progression of Hereditary Deafness.Central recruitment in individual with auditory neuropathy.Diaphanous homolog 3 (Diap3) overexpression causes progressive hearing loss and inner hair cell defects in a transgenic mouse model of human deafness.Nerve maintenance and regeneration in the damaged cochlea.Information from cochlear potentials and genetic mutations helps localize the lesion site in auditory neuropathy.Abnormal cochlear potentials from deaf patients with mutations in the otoferlin gene Synchronous auditory nerve activity in the carboplatin-chinchilla model of auditory neuropathy.N100 cortical potentials accompanying disrupted auditory nerve activity in auditory neuropathy (AN): effects of signal intensity and continuous noise.Math5 expression and function in the central auditory system.Increased activity of Diaphanous homolog 3 (DIAPH3)/diaphanous causes hearing defects in humans with auditory neuropathy and in Drosophila.Cochlear microphonic potential recorded by transtympanic electrocochleography in normally-hearing and hearing-impaired ears Pathophysiological mechanisms and functional hearing consequences of auditory neuropathy.AUNA2: A Novel Type of Non-Syndromic Slowly Progressive Auditory Synaptopathy/Auditory Neuropathy with Autosomal-Dominant Inheritance.Auditory neuropathy--neural and synaptic mechanisms.Perceptual consequences of disrupted auditory nerve activity.Inhibition of repulsive guidance molecule, RGMa, increases afferent synapse formation with auditory hair cells AUNX1, a novel locus responsible for X linked recessive auditory and peripheral neuropathy, maps to Xq23-27.3.ATP1A3 mutations can cause progressive auditory neuropathy: a new gene of auditory synaptopathy.The auditory characteristics of children with inner auditory canal stenosis.[Diagnosis and therapy of auditory synaptopathy/neuropathy].

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P2860

A dominantly inherited progressive deafness affecting distal auditory nerve and hair cells.

http://www.wikidata.org/entity/Q30492630

description

2004 nî lūn-bûn

@nan

2004 թուականի Դեկտեմբերին հրատարակուած գիտական յօդուած

@hyw

2004 թվականի դեկտեմբերին հրատարակված գիտական հոդված

@hy

2004年の論文

@ja

2004年論文

@yue

2004年論文

@zh-hant

2004年論文

@zh-hk

2004年論文

@zh-mo

2004年論文

@zh-tw

2004年论文

@wuu

name

A dominantly inherited progres ...... auditory nerve and hair cells.

@ast

A dominantly inherited progres ...... auditory nerve and hair cells.

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type

label

A dominantly inherited progres ...... auditory nerve and hair cells.

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A dominantly inherited progres ...... auditory nerve and hair cells.

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prefLabel

A dominantly inherited progres ...... auditory nerve and hair cells.

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A dominantly inherited progres ...... auditory nerve and hair cells.

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A dominantly inherited progres ...... auditory nerve and hair cells

@en

P2093

Arnold Starr

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Bronya J B Keats

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Fan-Gang Zeng

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George W Paulson

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Henry J Michalewski

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Marci M Lesperance

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Paula Beale

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Ying-Yee Kong

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P2860

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

N-myc downstream-regulated gene 1 is mutated in hereditary motor and sensory neuropathy-Lom

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

Progressive auditory neuropathy in patients with Leber's hereditary optic neuropathy.

Selective loss of inner hair cells and type-I ganglion neurons in carboplatin-treated chinchillas. Mechanisms of damage and protection.

Cochlear implants in five cases of auditory neuropathy: postoperative findings and progress.

Auditory neuropathy.

Pediatric cochlear implantation in auditory neuropathy.

Anticipation in a unique family with Charcot-Marie-Tooth syndrome and deafness: delineation of the clinical features and review of the literature.

Deafness and CMT disease associated with a novel four amino acid deletion in the PMP22 gene.

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s10162-004-5014-5

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411-426

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10.1007/S10162-004-5014-5

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4

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5

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Brandon Isaacson

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