Lista de obras - Pietro Scimemi - Dominio Público Uruguay

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.

artículo científico publicado en 2017

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

artículo científico publicado en 2015

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

artículo científico publicado en 2009

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

artículo científico publicado en 2020

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

artículo científico

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

artículo científico publicado en 2006

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

artículo científico publicado en 2011

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

artículo científico publicado en 2021

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

artículo científico publicado en 2021

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

artículo científico publicado en 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

artículo científico publicado en 2022

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

artículo científico publicado en 2015

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

artículo científico publicado en 2012

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

artículo científico publicado en 2016

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

artículo científico publicado en 2020

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

artículo científico publicado en 2010

Lista de obras de 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.