(Q30478414)

20 August 2017

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

1 reference

20 August 2017

Elona Cama

5

0 references

Pietro Scimemi

object named as

Pietro Scimemi

4

0 references

Ignacio del Castillo

object named as

Ignacio Del Castillo

2

0 references

Arnold Starr

7

object named as

Arnold Starr

1 reference

20 August 2017

Rosamaria Santarelli

1

1 reference

20 August 2017

Montserrat Rodríguez-Ballesteros

3

1 reference

20 August 2017

Edoardo Arslan

6

1 reference

20 August 2017

28 July 2009

1 reference

20 August 2017

1 reference

20 August 2017

10

1 reference

20 August 2017

4

1 reference

20 August 2017

545-556

1 reference

A multicenter study on the prevalence and spectrum of mutations in the otoferlin gene (OTOF) in subjects with nonsyndromic hearing impairment and auditory neuropathy

20 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2774414

Otoferlin, defective in a human deafness form, is essential for exocytosis at the auditory ribbon synapse

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2774414

Cochlear microphonic potential recorded by transtympanic electrocochleography in normally-hearing and hearing-impaired ears

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2774414

A dominantly inherited progressive deafness affecting distal auditory nerve and hair cells.

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2774414

Pathology and physiology of auditory neuropathy with a novel mutation in the MPZ gene (Tyr145->Ser).

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2774414

"Auditory neuropathy": physiologic and pathologic evidence calls for more diagnostic specificity

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2774414

Q829X, a novel mutation in the gene encoding otoferlin (OTOF), is frequently found in Spanish patients with prelingual non-syndromic hearing loss.

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2774414

Molecular genetics of hearing loss

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2774414

OTOF encodes multiple long and short isoforms: genetic evidence that the long ones underlie recessive deafness DFNB9.

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2774414

Are inner or outer hair cells the source of summating potentials recorded from the round window?

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2774414

C2-domains, structure and function of a universal Ca2+-binding domain

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2774414

Evidence that inner hair cells are the major source of cochlear summating potentials

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2774414

Basic characteristics of click-evoked otoacoustic emissions in infants and children.

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2774414

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2774414

Bioelectric Correlates of Kanamycin Intoxication

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2774414

Methods In Electrocochleography

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2774414

Study of MenièRe’s Disease By Electrocochleography

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2774414

Maturation of the traveling-wave delay in the human cochlea

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2774414

The varieties of auditory neuropathy.

20 June 2018

1 reference

Crossref

https://api.crossref.org/works/10.1007%2FS10162-009-0181-Z

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

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2774414

Frequency-specific electrocochleography indicates that presynaptic and postsynaptic mechanisms of auditory neuropathy exist.

26 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2774414

Auditory neuropathy in patients carrying mutations in the otoferlin gene (OTOF).

26 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2774414

Primary afferent and cochlear nucleus contributions to extracellular potentials during tone-bursts

26 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2774414

Electrocochleography in auditory neuropathy

26 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2774414

Cochlear receptor (microphonic and summating potentials, otoacoustic emissions) and auditory pathway (auditory brain stem potentials) activity in auditory neuropathy

26 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2774414

Brief report: the cochlear microphonic as an indication of outer hair cell function.

26 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2774414

Human summating potential to tone bursts: observations on tympanic membrane versus promontory recordings in the same patients.

26 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2774414

Action Potentials and Summating Potentials in the Normal Human Cochlea

26 November 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/19636622

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

In silico functional and structural characterisation of ferlin proteins by mapping disease-causing mutations and evolutionary information onto three-dimensional models of their C2 domains

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/19636622

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1007/S10162-009-0181-Z

1 reference

Dimensions Publication ID

20 August 2017

0 references

1 reference

20 August 2017

PubMed publication ID

19636622

1 reference