Electrocochleography in Auditory Neuropathy Related to Mutations in the OTOF or OPA1 Gene

Autor: Rosamaria Santarelli, Pietro Scimemi, Chiara La Morgia, Elona Cama, Ignacio del Castillo, Valerio Carelli

Publikováno v: Audiology Research, Vol 11, Iss 4, Pp 639-652 (2021)

Auditory Neuropathy (AN) is characterized by disruption of temporal coding of acoustic signals in auditory nerve fibers resulting in alterations of auditory perceptions. Mutations in several genes have been associated to the most forms of AN. Underly

Externí odkaz: https://doaj.org/article/37e0df065ec847a69e75d200f3a1997c

Hearing Dysfunction in a Large Family Affected by Dominant Optic Atrophy (OPA8-Related DOA): A Human Model of Hidden Auditory Neuropathy

Autor: Rosamaria Santarelli, Chiara La Morgia, Maria Lucia Valentino, Piero Barboni, Anna Monteleone, Pietro Scimemi, Valerio Carelli

Publikováno v: Frontiers in Neuroscience, Vol 13 (2019)

Hidden auditory neuropathy is characterized by reduced performances in challenging auditory tasks with the preservation of hearing thresholds, resulting from diffuse loss of cochlear inner hair cell (IHC) synapses following primary degeneration of un

Externí odkaz: https://doaj.org/article/2aba641b164248c29b5d63602d7db7a4

Novel Pathogenic Variants in PJVK, the Gene Encoding Pejvakin, in Subjects with Autosomal Recessive Non-Syndromic Hearing Impairment and Auditory Neuropathy Spectrum Disorder

Autor: María Domínguez-Ruiz, Montserrat Rodríguez-Ballesteros, Marta Gandía, Elena Gómez-Rosas, Manuela Villamar, Pietro Scimemi, Patrizia Mancini, Nanna D. Rendtorff, Miguel A. Moreno-Pelayo, Lisbeth Tranebjaerg, Carme Medà, Rosamaria Santarelli, Ignacio del Castillo

Publikováno v: Domínguez-Ruiz, M, Rodríguez-Ballesteros, M, Gandía, M, Gómez-Rosas, E, Villamar, M, Scimemi, P, Mancini, P, Rendtorff, N D, Moreno-Pelayo, M A, Tranebjaerg, L, Medà, C, Santarelli, R & Del Castillo, I 2022, ' Novel Pathogenic Variants in PJVK, the Gene Encoding Pejvakin, in Subjects with Autosomal Recessive Non-Syndromic Hearing Impairment and Auditory Neuropathy Spectrum Disorder ', Genes, vol. 13, no. 1, 149 . https://doi.org/10.3390/genes13010149
Genes, Vol 13, Iss 149, p 149 (2022)
Genes; Volume 13; Issue 1; Pages: 149

Pathogenic variants in the PJVK gene cause the DFNB59 type of autosomal recessive non-syndromic hearing impairment (AR-NSHI). Phenotypes are not homogeneous, as a few subjects show auditory neuropathy spectrum disorder (ANSD), while others show cochl

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::47560eabd096824ebcabfc1a1d8d84bc
https://curis.ku.dk/portal/da/publications/novel-pathogenic-variants-in-pjvk-the-gene-encoding-pejvakin-in-subjects-with-autosomal-recessive-nonsyndromic-hearing-impairment-and-auditory-neuropathy-spectrum-disorder(4927f0c2-ea26-491c-9e25-f2e425ee6235).html

The summating potential in human electrocochleography: Gaussian models and Fourier analysis

Autor: Kenneth E. Hancock, Stéphane F. Maison, M. Charles Liberman, Rosamaria Santarelli, Bennett O'Brien

Publikováno v: J Acoust Soc Am

In recent electrocochleographic studies, the amplitude of the summating potential (SP) was an important predictor of performance on word-recognition in difficult listening environments among normal-hearing listeners; paradoxically the SP was largest

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8a017fd81d30375a61c046997093ba80
https://pubmed.ncbi.nlm.nih.gov/34717457

Cochlear Synaptopathy due to Mutations in OTOF Gene May Result in Stable Mild Hearing Loss and Severe Impairment of Speech Perception

Autor: Pietro Scimemi, Montserrat Rodríguez-Ballesteros, Ignacio del Castillo, Marco Costantini, Rosamaria Santarelli, María Domínguez-Ruiz

Publikováno v: Ear and hearing. 42(6)

Objectives Congenital profound hearing loss with preserved cochlear outer hair cell activity (otoacoustic emissions and cochlear microphonic) is the most common phenotype associated with mutations in the OTOF gene. The aim of this study was to invest

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7d0f8a85777be743af0caaa8cbabd9e9
https://pubmed.ncbi.nlm.nih.gov/33908410