Variants in USP48 encoding ubiquitin hydrolase are associated with autosomal dominant non-syndromic hereditary hearing loss
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Introduction: As otology enters the field of gene therapy and human studies commence, the question arises whether audiograms - the current gold standard for the evaluation of hearing function - can consistently predict cellular damage within the human inne ...
In 2015, 360 million people, including 32 million children, were suffering from hearing impairment all over the world. This makes hearing disability a major worldwide issue. In the US, the prevalence of hearing loss increased by 160% over the past generati ...
The design of a proximity sensor to be integrated into cochlea implants is described. The sensor allows the anticipation of contact between the cochlear implant and intracochlear structures, including the cochlear canal wall and basilar membrane, providing ...
Optogenetics has become an important research tool and is being considered as the basis for several neural prostheses. However, few studies have applied optogenetics to the auditory brainstem. This study explored whether optical activation of the cochlear ...
PURPOSE. To define the phenotypic manifestation, confirm the genetic basis, and delineate the pathogenic mechanisms underlying an oculoauricular syndrome (OAS). METHODS. Two individuals from a consanguineous family underwent comprehensive clinical phenotyp ...
This paper describes a novel mechatronic platform, named "Up-Down Chair" (UDC), aimed at investigating otolith function in patients with vestibular disorders. The UDC was designed to provide a wide range of repeatable and controllable vertical oscillations ...
Genetic hearing loss accounts for up to 50% of prelingual deafness worldwide, yet there are no biologic treatments currently available. To investigate gene therapy as a potential biologic strategy for restoration of auditory function in patients with genet ...
American Association for the Advancement of Science2015
We studied possible brain changes with functional MRI (fMRI) and fluorodeoxyglucose positron emission tomography (FDG-PET) in a patient with a rare, high-intensity "objective tinnitus" (high-level SOAEs) in the left ear of 10 years duration, with no associ ...
Of the seven thousand diseases that are described as rare, 80% of them have an identified genetic cause. With this in the mind, the development of technologies, such as gene therapy, to address the genetic factors involved in these pathologies, might be a ...
The auditory brainstem implant (ABI) restores hearing in patients with damaged auditory nerves. One of the main ideas to improve the efficacy of ABIs is to increase spatial specificity of stimulation, in order to minimize extra-auditory side-effects and to ...
