Zobrazeno 1 - 10
of 79
pro vyhledávání: '"Pietro Scimemi"'
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
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:
Genes, Vol 13, Iss 1, p 149 (2022)
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://doaj.org/article/c864e0961298435fa756d44ff9deb2f0
Autor:
Davide Brotto, Renzo Manara, Pietro Scimemi, Flavia Sorrentino, Silvia Montino, Francesca Maritan, Ezio Caserta, Elisa Lovo, Alessandro Martini, Rosamaria Santarelli, Patrizia Trevisi
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 8, Iss 9, Pp n/a-n/a (2020)
Externí odkaz:
https://doaj.org/article/ad9d753f87b342e58e25279f10f364ef
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
Autor:
Mario A. Svirsky, Arlene C. Neuman, Jonathan D. Neukam, Annette Lavender, Margaret K. Miller, Ksenia A. Aaron, Piotr H. Skarzynski, Katarzyna B. Cywka, Henryk Skarzynski, Eric Truy, Fabien Seldran, Ruben Hermann, Paul Govaerts, Geert De Ceulaer, Francois Bergeron, Matthieu Hotton, Michelle Moran, Richard C. Dowell, Maria Valeria Schmidt Goffi-Gomez, Ana Tereza de Matos Magalhães, Rosamaria Santarelli, Pietro Scimemi
Publikováno v:
Journal of Clinical Medicine, Vol 9, Iss 6, p 1758 (2020)
In recent years there has been an increasing percentage of cochlear implant (CI) users who have usable residual hearing in the contralateral, nonimplanted ear, typically aided by acoustic amplification. This raises the issue of the extent to which th
Externí odkaz:
https://doaj.org/article/919572a9a210472fa2f37ff226cbd196
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:
Genes
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
Autor:
Alessia Remigante, Cristiana Picco, Rosamaria Santarelli, Angela Marino, Pietro Scimemi, Rossana Morabito, Michael Pusch, Silvia Dossena, Giovanni Zifarelli
Publikováno v:
The FASEB Journal. 35
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
Autor:
Rosamaria Santarelli, Diego Zanetti, Laura Mariani, Silvia Montino, Ilaria Giallini, Pietro Scimemi, Maria Nicastri, Elisa Lovo, Patrizia Trevisi, Federica Di Berardino, Sara Cavicchiolo, Patrizia Mancini
Background Little is known regarding fitting parameters and receptive and expressive language development in cochlear-implanted children (CCI) with profound sensorineural hearing loss (SHL) who are diagnosed with Autism Spectrum Disorder (ASD). The a
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::472a0ed113abbe0eeca8f864e4f2a32d
http://hdl.handle.net/11577/3388645
http://hdl.handle.net/11577/3388645
Autor:
Katarzyna B. Cywka, Ksenia A Aaron, Richard C. Dowell, François Bergeron, Arlene C. Neuman, Ruben Hermann, Pietro Scimemi, Michelle Moran, Paul J. Govaerts, Ana Tereza de Matos Magalhães, Piotr H. Skarzynski, Eric Truy, Matthieu Hotton, Maria Valéria Schmidt Goffi-Gomez, Fabien Seldran, Mario A. Svirsky, Jonathan D Neukam, Annette Lavender, Margaret K. Miller, Geert De Ceulaer, Rosamaria Santarelli, Henryk Skarżyński
Publikováno v:
Journal of Clinical Medicine
Volume 9
Issue 6
Journal of Clinical Medicine, Vol 9, Iss 1758, p 1758 (2020)
Volume 9
Issue 6
Journal of Clinical Medicine, Vol 9, Iss 1758, p 1758 (2020)
In recent years there has been an increasing percentage of cochlear implant (CI) users who have usable residual hearing in the contralateral, nonimplanted ear, typically aided by acoustic amplification. This raises the issue of the extent to which th