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Information from cochlear potentials and genetic mutations helps localize the lesion site in auditory neuropathy

Genome medicine, 2010-12, Vol.2 (12), p.91-91

Santarelli, Rosamaria

2010

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Audibility, speech perception and processing of temporal cues in ribbon synaptic disorders due to OTOF mutations

Hearing research, 2015-12, Vol.330 (Pt B), p.200-212

2015

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OPA1-related auditory neuropathy: site of lesion and outcome of cochlear implantation

Brain (London, England : 1878), 2015-03, Vol.138 (Pt 3), p.563-576

2015

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Frequency of Usher gene mutations in non-syndromic hearing loss: higher variability of the Usher phenotype

Journal of human genetics, 2020-10, Vol.65 (10), p.855-864

2020

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A European Perspective on Auditory Processing Disorder-Current Knowledge and Future Research Focus

Frontiers in neurology, 2017-11, Vol.8, p.622-622

2017

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Tryptophan-rich basic protein (WRB) mediates insertion of the tail-anchored protein otoferlin and is required for hair cell exocytosis and hearing

The EMBO journal, 2016-12, Vol.35 (23), p.2536-2552

2016

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Cochlear implantation in children with Autism Spectrum Disorder (ASD): Outcomes and implant fitting characteristics

International journal of pediatric otorhinolaryngology, 2021-10, Vol.149, p.110876-110876, Article 110876

2021

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

Audiology research (Pavia, Italy), 2021-11, Vol.11 (4), p.639-652

2021

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

Frontiers in neuroscience, 2019-05, Vol.13, p.501-501

2019

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The human deafness-associated connexin 30 T5M mutation causes mild hearing loss and reduces biochemical coupling among cochlear non-sensory cells in knock-in mice

Human molecular genetics, 2010-12, Vol.19 (24), p.4759-4773

2010

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Cochlear Implantation Outcome in Prelingually Deafened Young Adults

Audiology & neurotology, 2008-01, Vol.13 (4), p.257-265

2008

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An audiological perspective on ‘‘Two further patients with Warsaw breakage syndrome. Is a mild phenotype possible?

Molecular genetics & genomic medicine, 2020-09, Vol.8 (9), p.e1283-n/a

2020

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

The Journal of the Acoustical Society of America, 2021-10, Vol.150 (4), p.2492-2502

2021

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Reduction of Kir4.1 channel activity in an oxidative stress‐related aging model

The FASEB journal, 2021-05, Vol.35 (S1), p.n/a, Article fasebj.2021.35.S1.01854

2021

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Preservation of Distortion Product Otoacoustic Emissions in OTOF -Related Hearing Impairment

Ear and hearing, 2024-01, Vol.45 (1), p.250-256

2024

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

Ear and hearing, 2021-11, Vol.42 (6), p.1627-1639

2021

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Mutation of OPA1 gene causes deafness by affecting function of auditory nerve terminals

Brain research, 2009-11, Vol.1300, p.97-104

2009

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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

International journal of pediatric otorhinolaryngology, 2018-01, Vol.104, p.88-93

2018

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Botulinum a Toxin Effects on Rat Jaw Muscle Spindles

Acta oto-laryngologica, 1993, Vol.113 (3), p.400-404

1993

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Neural and receptor cochlear potentials obtained by transtympanic electrocochleography in auditory neuropathy

Clinical neurophysiology, 2008-05, Vol.119 (5), p.1028-1041

2008

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Reply: Both mitochondrial DNA and mitonuclear gene mutations cause hearing loss through cochlear dysfunction

Brain (London, England : 1878), 2016-06, Vol.139 (Pt 6), p.e34-e34

2016

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Abnormal Cochlear Potentials in Friedreich's Ataxia Point to Disordered Synchrony of Auditory Nerve Fiber Activity

Neuro-degenerative diseases, 2015-01, Vol.15 (2), p.114-120

2015

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

Genes, 2022-01, Vol.13 (1), p.149

2022

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Auditory neuropathies and electrocochleography

Hearing, balance and communication, 2013-09, Vol.11 (3), p.130-137

2013

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Cochlear Implantation Outcome in Prelingually Deafened Young Adults : A Speech Perception Study

Audiology & neurotology, 2008-06, Vol.13 (4), p.257-265

2008

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Information from cochlear potentials and genetic mutations helps localize the lesion site in auditory neuropathy

Audibility, speech perception and processing of temporal cues in ribbon synaptic disorders due to OTOF mutations

OPA1-related auditory neuropathy: site of lesion and outcome of cochlear implantation

Frequency of Usher gene mutations in non-syndromic hearing loss: higher variability of the Usher phenotype

A European Perspective on Auditory Processing Disorder-Current Knowledge and Future Research Focus

Tryptophan-rich basic protein (WRB) mediates insertion of the tail-anchored protein otoferlin and is required for hair cell exocytosis and hearing

Cochlear implantation in children with Autism Spectrum Disorder (ASD): Outcomes and implant fitting characteristics

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

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

The human deafness-associated connexin 30 T5M mutation causes mild hearing loss and reduces biochemical coupling among cochlear non-sensory cells in knock-in mice

Cochlear Implantation Outcome in Prelingually Deafened Young Adults

An audiological perspective on ‘‘Two further patients with Warsaw breakage syndrome. Is a mild phenotype possible?

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

Reduction of Kir4.1 channel activity in an oxidative stress‐related aging model

Preservation of Distortion Product Otoacoustic Emissions in OTOF -Related Hearing Impairment

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

Mutation of OPA1 gene causes deafness by affecting function of auditory nerve terminals

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

Botulinum a Toxin Effects on Rat Jaw Muscle Spindles

Neural and receptor cochlear potentials obtained by transtympanic electrocochleography in auditory neuropathy

Reply: Both mitochondrial DNA and mitonuclear gene mutations cause hearing loss through cochlear dysfunction

Abnormal Cochlear Potentials in Friedreich's Ataxia Point to Disordered Synchrony of Auditory Nerve Fiber Activity

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

Auditory neuropathies and electrocochleography

Cochlear Implantation Outcome in Prelingually Deafened Young Adults : A Speech Perception Study

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