Sfoglia per Autore
The outcome of cochlear implantation in otoferlin-related cochlear synaptopathy
2023 Santarelli, Rosamaria; Scimemi, Pietro; Dominguez-Ruiz, Maria; Ferraboschi, Alessandra; Pistello, Marica; Chiara Mardegan, Anna; Calegaro, Michela; del Castillo, Ignacio
Preservation of Distortion Product Otoacoustic Emissions in OTOF-Related Hearing Impairment
2023 Santarelli, Rosamaria; Scimemi, Pietro; Cama, Elona; Domínguez-Ruiz, María; Bonora, Chiara; Gallo, Chiara; Rodríguez-Ballesteros, Montserrat; del Castillo, Ignacio
Novel Pathogenic Variants in PJVK, the Gene Encoding Pejvakin, in Subjects with Autosomal Recessive Non-Syndromic Hearing Impairment and Auditory Neuropathy Spectrum Disorder
2022 Dominguez-Ruiz, M.; Rodriguez-Ballesteros, M.; Gandia, M.; Gomez-Rosas, E.; Villamar, M.; Scimemi, P.; Mancini, P.; Rendtorff, N. D.; Moreno-Pelayo, M. A.; Tranebjaerg, L.; Meda, C.; Santarelli, R.; Del Castillo, I.
Cochlear synaptopathy due to mutations in OTOF gene may result in stable mild hearing loss and severe impairment of speech perception
2021 Santarelli, Rosamaria; Scimemi, Pietro; Costantini, Marco; Domìnguez-Ruiz, Maria; Rodrìguez-Ballesteros, Montserrat; del Castillo, Ignacio
Cochlear implantation in children with Autism Spectrum Disorder (ASD): outcomes and implant fitting characteristics
2021 Mancini, Patrizia; Mariani, Laura; Nicastri, Maria; Cavicchiolo, Sara; Giallini, Ilaria; Scimemi, Pietro; Zanetti, Diego; Montino, Silvia; Lovo, Elisa; Di Berardino, Federica; Trevisi, Patrizia; Santarelli, Rosamaria
Gaussian models and Fourier analysis of human ABRs: The search for biomarkers of cochlear nerve degeneration.
2021 Hancock, Ke; Santarelli, R; Liberman, Mc; Maison, Sf
Reduction of Kir4.1 channel activity in an oxidative stress‐related aging model
2021 Remigante, Alessia; Morabito, Rossana; Marino, Angela; Scimemi, Pietro; Picco, Cristiana; Santarelli, Rosamaria; Zifarelli, Giovanni; Dossena, Silvia; Pusch, Michael
The summating potential in human electrocochleography: Gaussian models and Fourier analysis
2021 Hancock Kennet, E; O’Brien, Bennett; Santarelli, Rosamaria; Liberman Charles, M; Maison, Stéphane
Electrocochleography in Auditory Neuropathy Related to Mutations in the OTOF or OPA1 Gene
2021 Santarelli, R; Scimemi, P; La Morgia, C; Cama, E; del Castillo, I; Carelli, V
Speech Perception Changes in the Acoustically Aided, Nonimplanted Ear after Cochlear Implantation: A Multicenter Study
2020 Svirsky, Mario A; Neuman, Arlene C; Neukam, Jonathan D; Lavender, Annette; Miller, Margaret K; Aaron, Ksenia A; Skarzynski, Piotr H; Cywka, Katarzyna B; Skarzynski, Henryk; Truy, Eric; Seldran, Fabien; Hermann, Ruben; Govaerts, Paul; De Ceulaer, Geert; Bergeron, Francois; Hotton, Matthieu; Moran, Michelle; Dowell, Richard C; Goffi-Gomez, Maria Valeria Schmidt; Magalhães, Ana Tereza de Matos; Santarelli, Rosamaria; Scimemi, Pietro
An audiological perspective on ‘‘Two further patients with Warsaw breakage syndrome. Is a mild phenotype possible?”
2020 Brotto, D.; Manara, R.; Scimemi, P.; Sorrentino, F.; Montino, S.; Maritan, F.; Caserta, E.; Lovo, E.; Martini, A.; Santarelli, R.; Trevisi, P.
Frequency of Usher gene mutations in non-syndromic hearing loss: higher variability of the Usher phenotype
2020 Cesca, F.; Bettella, E.; Polli, R.; Leonardi, E.; Aspromonte, M. C.; Sicilian, B.; Stanzial, F.; Benedicenti, F.; Sensi, A.; Ciorba, A.; Bigoni, S.; Cama, E.; Scimemi, P.; Santarelli, R.; Murgia, A.
Hearing Dysfunction in a Large Family Affected by Dominant Optic Atrophy (OPA8-Related DOA): A Human Model of Hidden Auditory Neuropathy
2019 Santarelli, Rosamaria; La Morgia, Chiara; Valentino, Maria Lucia; Barboni, Piero; Monteleone, Anna; Scimemi, Pietro; Carelli, Valerio
A novel mutation of the EYA4 gene associated with post-lingual hearing loss in a proband is co-segregating with a novel PAX3 mutation in two congenitally deaf family members
2018 Cesca, Federica; Bettella, Elisa; Polli, Roberta; Cama, Elona; Scimemi, Pietro; Santarelli, Rosamaria; Murgia, Alessandra
European 17 countries consensus endorses more approaches to APD than reported in Wilson 2018
2018 Iliadou, Vasiliki Vivian; Ptok, Martin; Grech, Helen; Pedersen, Ellen Raben; Brechmann, André; Deggouj, Naïma; Kiese-Himmel, Christiane; S´liwin´ska-Kowalska, Mariola; Nickisch, Andreas; Demanez, Laurent; Veuillet, Evelyne; Thai-Van, Hung; Sirimanna, Tony; Callimachou, Marina; Santarelli, Rosamaria; Kuske, Sandra; Barajas de Prat, Jose Juan; Hedever, Mladen; Konukseven, Ozlem; Veraguth, Dorothy; Mattsson, Tone Stokkereit; Martins, Jorge Humberto; Bamiou, Doris-Eva
Implicit sequence learning and verbal rehearsal skills in hearing and cochlear implanted children
2017 Arfe', Barbara; Fastelli, Ambra; Mulattia, Claudio; Scimemi, Pietro; Santarelli, Rosamaria
L'utilizzo di misure oggettive nella verifica del fitting audioprotesico in Italia
2017 Scimemi, Pietro; Borghi, Cristian; Cama, Elona; Santarelli, Rosamaria
A European perspective on auditory processing disorder-current knowledge and future research focus
2017 Iliadou, Vasiliki; Ptok, Martin; Grech, Helen; Pedersen, Ellen Raben; Brechmann, Andrã©; Deggouj, Naã¯ma; Kiese-Himmel, Christiane; Sliwinska-Kowalska, Mariola; Nickisch, Andreas; Demanez, Laurent; Veuillet, Evelyne; Thai-Van, Hung; Sirimanna, Tony; Callimachou, Marina; Santarelli, Rosamaria; Kuske, Sandra; Barajas, Jose; Hedjever, Mladen; Konukseven, Ozlem; Veraguth, Dorothy; Mattsson, Tone Stokkereit; Martins, Jorge Humberto; Bamiou, Doris-Eva
OPA1- and OTOF-related auditory neuropathy: site of lesion and outcome of cochlear implantation
2016 Santarelli, Rosamaria; Cama, Elona; Scimemi, Pietro; La Morgia, Chiara; Del Castillo, Ignacio; Carelli, Valerio
Tryptophan-rich basic protein (WRB) mediates insertion of the tail-anchored protein otoferlin and is required for hair cell exocytosis and hearing
2016 Panou I, 1.; Yamanbaeva, G; Vogl, C; Wichmann, C; Mangosing, S; Vilardi, F; Indzhykulian, Aa; Pangršič T, T.; Santarelli, Rosamaria; Rodriguez Ballesteros, M; Weber, T; Jung, Sy; Wu, X; Wojcik, Sm; Kwan, Ky; del Castillo, I; Schwappach, B; Strenzke, N; Corey, Dp; Lin, Sy; Moser, T.
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