ArticleGenome medicine2010
Information from cochlear potentials and genetic mutations helps localize the lesion site in auditory neuropathy.
Article in Genome medicine, 2010. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 34 papers, 2 of them syntheses that pooled it.
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Who cites it
34 citing papers in PubMed, 2 syntheses or guidelines pooled it, 79 citations in OpenAlex.
- Is auditory neuropathy an appropriate term? A systematic literature review on its aetiology and pathogenesis.Acta otorhinolaryngologica Italica : organo ufficiale della Societa italiana di otorinolaringologia e chirurgia cervico-facciale · 2021Pooled it
- Cochlear Implantation Outcomes in Post Synaptic Auditory Neuropathies: A Systematic Review and Narrative Synthesis.The journal of international advanced otology · 2020Pooled it
- The Genetic Causes of Auditory Neuropathy: A Systematic Review.Journal of clinical medicine · 2026Review
- Retrocochlear Auditory Dysfunctions (RADs) and Their Treatment: A Narrative Review.Audiology research · 2025Review
- Next-Generation Sequencing to Detect Mutations for the Molecular Diagnosis of Auditory Neuropathy Spectrum Disorder in a Chinese Series.The journal of international advanced otology · 2025Article
- Identification of genetic mechanisms of non-isolated auditory neuropathy with various phenotypes in Chinese families.Orphanet journal of rare diseases · 2025Article
- Polygenic risk of social isolation behavior and its influence on psychopathology and personality.Molecular psychiatry · 2024Article
- Remediation of Perceptual Deficits in Progressive Auditory Neuropathy: A Case Study.Journal of clinical medicine · 2024Article
- Navigating the Usher Syndrome Genetic Landscape: An Evaluation of the Associations between Specific Genes and Quality Categories of Cochlear Implant Outcomes.Audiology research · 2024Review
- The human OPA1Cellular and molecular life sciences : CMLS · 2024Article
- The natural history, clinical outcomes, and genotype-phenotype relationship of otoferlin-related hearing loss: a systematic, quantitative literature review.Human genetics · 2023Review
- Tone-Burst Auditory Brainstem Response and Cortical Potentials in Diagnosis of Syndromic Auditory Neuropathy Spectrum Disorder.Journal of audiology & otology · 2023Article
- Article
- Current Advances in Gene Therapies of Genetic Auditory Neuropathy Spectrum Disorder.Journal of clinical medicine · 2023Review
- Pathogenic mtDNA variants, in particular single large-scale mtDNA deletions, are strongly associated with post-lingual onset sensorineural hearing loss in primary mitochondrial disease.Molecular genetics and metabolism · 2022Article
- Neural Contributions to the Cochlear Summating Potential: Spiking and Dendritic Components.Journal of the Association for Research in Otolaryngology : JARO · 2022Article
- Electrocochleography in Auditory Neuropathy Related to Mutations in the OTOF or OPA1 Gene.Audiology research · 2021Review
- Familial Temperature-Sensitive Auditory Neuropathy: Distinctive Clinical Courses Caused by Variants of theFrontiers in cell and developmental biology · 2021Article
- Auditory Neuropathy Spectrum Disorders: From Diagnosis to Treatment: Literature Review and Case Reports.Journal of clinical medicine · 2020Review
- High Frequency ofNeural plasticity · 2020Article
Corrections and comments
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Authors and funding
1 author at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Auditory neuropathy (AN) is a disorder characterized by disruption of auditory nerve activity resulting from lesions involving the auditory nerve (postsynaptic AN), inner hair cells and/or the synapses with auditory nerve terminals (presynaptic AN). Affected subjects show impairment of speech perception beyond that expected for the hearing loss, abnormality of auditory brainstem potentials and preserved outer hair-cell activities. Furthermore, AN can be identified either as an isolated disorder or as an associated disorder with multisystem involvement including peripheral and optic neuropathies (non-isolated AN). Mutations in several nuclear and mitochondrial genes have been identified as underlying these forms of AN. Recently, new genes have been identified as involved in both isolated (DIAPH3, OTOF) and non-isolated AN (OPA1). Moreover, abnormal cochlear potentials have been recorded from patients with specific gene mutations by using acoustic stimuli or electrical stimulation through cochlear implant. In this review, different types of genetically based auditory neuropathies are discussed and the proposed molecular mechanisms underlying AN are reviewed.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.