Cargando…

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

Hearing impairment is the second most prevalent clinical feature after optic atrophy in dominant optic atrophy associated with mutations in the OPA1 gene. In this study we characterized the hearing dysfunction in OPA1-linked disorders and provided effective rehabilitative options to improve speech p...

Descripción completa

Detalles Bibliográficos
Autores principales:	Santarelli, Rosamaria, Rossi, Roberta, Scimemi, Pietro, Cama, Elona, Valentino, Maria Lucia, La Morgia, Chiara, Caporali, Leonardo, Liguori, Rocco, Magnavita, Vincenzo, Monteleone, Anna, Biscaro, Ariella, Arslan, Edoardo, Carelli, Valerio
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Oxford University Press 2015
Materias:	Original Articles
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4339771/ https://www.ncbi.nlm.nih.gov/pubmed/25564500 http://dx.doi.org/10.1093/brain/awu378

Ejemplares similares

Electrocochleography in Auditory Neuropathy Related to Mutations in the OTOF or OPA1 Gene
por: Santarelli, Rosamaria, et al.
Publicado: (2021)

Hearing Dysfunction in a Large Family Affected by Dominant Optic Atrophy (OPA8-Related DOA): A Human Model of Hidden Auditory Neuropathy
por: Santarelli, Rosamaria, et al.
Publicado: (2019)

Information from cochlear potentials and genetic mutations helps localize the lesion site in auditory neuropathy
por: Santarelli, Rosamaria
Publicado: (2010)

Syndromic parkinsonism and dementia associated with OPA 1 missense mutations
por: Carelli, Valerio, et al.
Publicado: (2015)

Variation in OPA1 does not explain the incomplete penetrance of Leber hereditary optic neuropathy
por: Hudson, Gavin, et al.
Publicado: (2010)

Co-occurrence of amyotrophic lateral sclerosis and Leber’s hereditary optic neuropathy: is mitochondrial dysfunction a modifier?
por: Amore, Giulia, et al.
Publicado: (2022)

Auditory synaptopathy, auditory neuropathy, and cochlear implantation
por: Shearer, Aiden Eliot, et al.
Publicado: (2019)

A Second Case With the V374A KCND3 Pathogenic Variant in an Italian Patient With Early-Onset Spinocerebellar Ataxia
por: Palombo, Flavia, et al.
Publicado: (2022)

ATPase Domain AFG3L2 Mutations Alter OPA1 Processing and Cause Optic Neuropathy
por: Caporali, Leonardo, et al.
Publicado: (2020)

Auditory Neuropathy / Auditory Dyssynchrony in children with Cochlear Implants
por: de Carvalho, Ana Claudia Martinho, et al.
Publicado: (2015)

Study of cochlear microphonic potentials in auditory neuropathy()
por: Soares, Ilka do Amaral, et al.
Publicado: (2016)

Cochlear Synaptopathy due to Mutations in OTOF Gene May Result in Stable Mild Hearing Loss and Severe Impairment of Speech Perception
por: Santarelli, Rosamaria, et al.
Publicado: (2021)

Unilateral Auditory Neuropathy Caused by Cochlear Nerve Deficiency
por: Liu, Cheng, et al.
Publicado: (2012)

Determination of Benefits of Cochlear Implantation in Children with Auditory Neuropathy
por: Ji, Fei, et al.
Publicado: (2015)

Outcomes of cochlear implantation in 75 patients with auditory neuropathy
por: Wu, Jie, et al.
Publicado: (2023)

First TMEM126A missense mutation in an Italian proband with optic atrophy and deafness
por: La Morgia, Chiara, et al.
Publicado: (2019)

The optic nerve: A “mito-window” on mitochondrial neurodegeneration
por: Maresca, Alessandra, et al.
Publicado: (2013)

Auditory brainstem responses to clicks and tone bursts in C57 BL/6J mice
por: SCIMEMI, P., et al.
Publicado: (2014)

Idebenone increases chance of stabilization/recovery of visual acuity in OPA1‐dominant optic atrophy
por: Romagnoli, Martina, et al.
Publicado: (2020)

Novel Pathogenic Variants in PJVK, the Gene Encoding Pejvakin, in Subjects with Autosomal Recessive Non-Syndromic Hearing Impairment and Auditory Neuropathy Spectrum Disorder
por: Domínguez-Ruiz, María, et al.
Publicado: (2022)

Editorial: Hereditary Optic Neuropathies: A New Perspective
por: Carelli, Valerio, et al.
Publicado: (2021)

Intraoperative Electrocochleographic Characteristics of Auditory Neuropathy Spectrum Disorder in Cochlear Implant Subjects
por: Riggs, William J., et al.
Publicado: (2017)

Cochlear Implantation in a Case of Auditory Neuropathy Spectrum Disorder with CAPOS Syndrome
por: Atilgan, Atılım, et al.
Publicado: (2019)

Medical Management of Hereditary Optic Neuropathies
por: La Morgia, Chiara, et al.
Publicado: (2014)

Optic neuropathies: the tip of the neurodegeneration iceberg
por: Carelli, Valerio, et al.
Publicado: (2017)

Autosomal dominant optic atrophy with OPA1 gene mutations accompanied by auditory neuropathy and other systemic complications in a Japanese cohort
por: Maeda-Katahira, Akiko, et al.
Publicado: (2019)

Therapeutic Options in Hereditary Optic Neuropathies
por: Amore, Giulia, et al.
Publicado: (2020)

BAAV Mediated GJB2 Gene Transfer Restores Gap Junction Coupling in Cochlear Organotypic Cultures from Deaf Cx26Sox10Cre Mice
por: Crispino, Giulia, et al.
Publicado: (2011)

Peculiar combinations of individually non-pathogenic missense mitochondrial DNA variants cause low penetrance Leber’s hereditary optic neuropathy
por: Caporali, Leonardo, et al.
Publicado: (2018)

Systematic Literature Review and Early Benefit of Cochlear Implantation in Two Pediatric Auditory Neuropathy Cases
por: Keintzel, Thomas, et al.
Publicado: (2023)

Duration of Cochlear Microphonics in Click and Toneburst-Evoked Auditory Brainstem Response in Individuals With Auditory Neuropathy Spectrum Disorder and Normal Hearing
por: Sasidharan, Megha, et al.
Publicado: (2023)

A neurodegenerative perspective on mitochondrial optic neuropathies
por: Yu-Wai-Man, Patrick, et al.
Publicado: (2016)

Dominant Optic Atrophy (DOA): Modeling the Kaleidoscopic Roles of OPA1 in Mitochondrial Homeostasis
por: Del Dotto, Valentina, et al.
Publicado: (2021)

Evaluation of a Less Invasive Cochlear Implant Surgery in OPA1 Mutations Provoking Deafblindness
por: Tekin, Ahmet M., et al.
Publicado: (2023)

Epilepsy in MT‐ATP6 ‐ related mils/NARP: correlation of elettroclinical features with heteroplasmy
por: Licchetta, Laura, et al.
Publicado: (2021)

Surgical Methods and Auditory Outcomes of Cochlear Implantation in Cochlear Ossification
por: Tokat, Taskin, et al.
Publicado: (2022)

Multi-system neurological disease is common in patients with OPA1 mutations
por: Yu-Wai-Man, P., et al.
Publicado: (2010)

Auditory processing in individuals with auditory neuropathy
por: Kumar, Ajith U, et al.
Publicado: (2005)

A Rare Case of Perrault Syndrome with Auditory Neuropathy Spectrum Disorder: Cochlear Implantation Treatment and Literature Review
por: Forli, Francesca, et al.
Publicado: (2021)

Performance of hearing skills in children with auditory neuropathy spectrum disorder using cochlear implant: a systematic review()()
por: Fernandes, Nayara Freitas, et al.
Publicado: (2014)

Cannot write session to /tmp/vufind_sessions/sess_jmi2iodc5nbcfsdqibtg2savs8