In this Chinese family with hereditary deafness, we identified a novel DIAPH3 point variant (NM_001042517.2:c.1472A>G). This variant manifests as late‐onset progressive sensorineural hearing loss, with congruent pure‐tone audiometry (PTA) and auditory brainstem response (ABR) thresholds.
Lingling Zeng +8 more
wiley +1 more source
Electron Microscopic Mapping of Mitochondrial Morphology in the Cochlear Nerve Fibers. [PDF]
Lu Y, Jiang Y, Wang F, Wu H, Hua Y.
europepmc +1 more source
Comparison of ABR and ASSR using narrow-band-chirp-stimuli in children with cochlear malformation and/or cochlear nerve hypoplasia suffering from severe/profound hearing loss. [PDF]
Eder K +6 more
europepmc +1 more source
Two-tone interaction in phase locking of cat cochlear nerve fibers.
Susumu Ito +3 more
openalex +2 more sources
A Novel Intronic Variant Causes Aberrant Splicing of PCDH15 in a Family With Usher Syndrome Type 1F
Minigene splicing assays elucidated the pathogenicity of a novel intronic c.3717+5G>A mutation in the PCDH15 gene, which was identified in a family affected by Usher syndrome type 1F. The results demonstrated that the c.3717+5G>A mutation can lead to exon 27 skipping and retention of 51 bp at the 5′ end of intron 27, resulting in truncated or abnormal ...
Qifan Ma +3 more
wiley +1 more source
Assessing Neural Synchrony in the Cochlear Nerve to Electrical Stimulation in Children With Auditory Neuropathy Spectrum Disorder. [PDF]
He S +4 more
europepmc +1 more source
Modeled auditory nerve responses to amplitude modulated cochlear implant stimulation
M.J. van Gendt +3 more
openalex +2 more sources
Abstract Objective To evaluate the petrosquamous septum in children under 5 years of age and its usefulness as a surgical landmark using computed tomography (CT); to identify petrosquamous stalactite and its relationship to the ossicular chain and external acoustic meatus is also described. Study Design Retrospective review of CT scans.
Tomasz Wojciechowski +2 more
wiley +1 more source
A postmortem high-resolution MRI study of the development of cochlear nerve-related structures in the second and third trimesters of pregnancy. [PDF]
Zhao H +8 more
europepmc +1 more source

