List of works - Pietro Scimemi

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.

scientific article

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

scientific article published on 17 March 2015

Abnormal cochlear potentials from deaf patients with mutations in the otoferlin gene

scientific article

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

scientific article published on 05 June 2020

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

scientific article published on 15 July 2015

Auditory neuropathy in systemic sclerosis: a speech perception and evoked potential study before and after cochlear implantation.

scientific article published on 9 June 2006

BAAV mediated GJB2 gene transfer restores gap junction coupling in cochlear organotypic cultures from deaf Cx26Sox10Cre mice

scientific article

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

scientific article published in 2021

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

scientific article published in 2021

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

scientific article published on 28 May 2020

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

scientific article published on 28 May 2019

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

scientific article published in 2022

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

scientific article

Reduced phosphatidylinositol 4,5-bisphosphate synthesis impairs inner ear Ca2+ signaling and high-frequency hearing acquisition

scientific article (publication date: 28 August 2012)

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

scientific article published on 25 March 2016

Speech Perception Changes in the Acoustically Aided, Nonimplanted Ear after Cochlear Implantation: A Multicenter Study

scientific article published on 05 June 2020

The novel PMCA2 pump mutation Tommy impairs cytosolic calcium clearance in hair cells and links to deafness in mice.

scientific article

List of works by Pietro Scimemi

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.

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

Abnormal cochlear potentials from deaf patients with mutations in the otoferlin gene

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

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

Auditory neuropathy in systemic sclerosis: a speech perception and evoked potential study before and after cochlear implantation.

BAAV mediated GJB2 gene transfer restores gap junction coupling in cochlear organotypic cultures from deaf Cx26Sox10Cre mice

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

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

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

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

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

Reduced phosphatidylinositol 4,5-bisphosphate synthesis impairs inner ear Ca2+ signaling and high-frequency hearing acquisition

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

Speech Perception Changes in the Acoustically Aided, Nonimplanted Ear after Cochlear Implantation: A Multicenter Study

The novel PMCA2 pump mutation Tommy impairs cytosolic calcium clearance in hair cells and links to deafness in mice.