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Hair cell synaptic dysfunction, auditory fatigue and thermal sensitivity in otoferlin Ile515Thr mutants.

Strenzke N, Chakrabarti R, Al-Moyed H, Müller A, Hoch G, Pangrsic T, Yamanbaeva G, Lenz C, Pan KT, Auge E, Geiss-Friedlander R, Urlaub H, Brose N, Wichmann C, Reisinger E.

EMBO J. 2016 Dec 1;35(23):2519-2535.


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

Vogl C, Panou I, Yamanbaeva G, Wichmann C, Mangosing SJ, Vilardi F, Indzhykulian AA, Pangršič T, Santarelli R, Rodriguez-Ballesteros M, Weber T, Jung S, Cardenas E, Wu X, Wojcik SM, Kwan KY, Del Castillo I, Schwappach B, Strenzke N, Corey DP, Lin SY, Moser T.

EMBO J. 2016 Dec 1;35(23):2536-2552.


Heat pulse excitability of vestibular hair cells and afferent neurons.

Rabbitt RD, Brichta AM, Tabatabaee H, Boutros PJ, Ahn J, Della Santina CC, Poppi LA, Lim R.

J Neurophysiol. 2016 Aug 1;116(2):825-43. doi: 10.1152/jn.00110.2016.


Refinement of Molecular Diagnostic Protocol of Auditory Neuropathy Spectrum Disorder: Disclosure of Significant Level of Etiologic Homogeneity in Koreans and Its Clinical Implications.

Chang MY, Kim AR, Kim NK, Lee C, Park WY, Choi BY.

Medicine (Baltimore). 2015 Nov;94(47):e1996. doi: 10.1097/MD.0000000000001996.


Disruption of adaptor protein 2μ (AP-2μ) in cochlear hair cells impairs vesicle reloading of synaptic release sites and hearing.

Jung S, Maritzen T, Wichmann C, Jing Z, Neef A, Revelo NH, Al-Moyed H, Meese S, Wojcik SM, Panou I, Bulut H, Schu P, Ficner R, Reisinger E, Rizzoli SO, Neef J, Strenzke N, Haucke V, Moser T.

EMBO J. 2015 Nov 3;34(21):2686-702. doi: 10.15252/embj.201591885.


Screening of genetic alterations related to non-syndromic hearing loss using MassARRAY iPLEX® technology.

Svidnicki MC, Silva-Costa SM, Ramos PZ, dos Santos NZ, Martins FT, Castilho AM, Sartorato EL.

BMC Med Genet. 2015 Sep 23;16:85. doi: 10.1186/s12881-015-0232-8.


Neurological associations in auditory neuropathy spectrum disorder: Results from a tertiary hospital in South India.

Lepcha A, Chandran RK, Alexander M, Agustine AM, Thenmozhi K, Balraj A.

Ann Indian Acad Neurol. 2015 Apr-Jun;18(2):171-80. doi: 10.4103/0972-2327.150578.


Relating structure and function of inner hair cell ribbon synapses.

Wichmann C, Moser T.

Cell Tissue Res. 2015 Jul;361(1):95-114. doi: 10.1007/s00441-014-2102-7. Review.


Illumina sequencing of 15 deafness genes using fragmented amplicons.

Van Nieuwerburgh F, De Keulenaer S, De Schrijver J, Vandesompele J, Van Criekinge W, Coucke PJ, Deforce D.

BMC Res Notes. 2014 Aug 9;7:509. doi: 10.1186/1756-0500-7-509.


Evidence for genotype-phenotype correlation for OTOF mutations.

Yildirim-Baylan M, Bademci G, Duman D, Ozturkmen-Akay H, Tokgoz-Yilmaz S, Tekin M.

Int J Pediatr Otorhinolaryngol. 2014 Jun;78(6):950-3. doi: 10.1016/j.ijporl.2014.03.022.


A novel otoferlin splice-site mutation in siblings with auditory neuropathy spectrum disorder.

Runge CL, Erbe CB, McNally MT, Van Dusen C, Friedland DR, Kwitek AE, Kerschner JE.

Audiol Neurootol. 2013;18(6):374-82. doi: 10.1159/000354978.


OTOF mutation screening in Japanese severe to profound recessive hearing loss patients.

Iwasa Y, Nishio SY, Yoshimura H, Kanda Y, Kumakawa K, Abe S, Naito Y, Nagai K, Usami S.

BMC Med Genet. 2013 Sep 22;14:95. doi: 10.1186/1471-2350-14-95.


Loudness adaptation accompanying ribbon synapse and auditory nerve disorders.

Wynne DP, Zeng FG, Bhatt S, Michalewski HJ, Dimitrijevic A, Starr A.

Brain. 2013 May;136(Pt 5):1626-38. doi: 10.1093/brain/awt056.


Genetics of hearing and deafness.

Angeli S, Lin X, Liu XZ.

Anat Rec (Hoboken). 2012 Nov;295(11):1812-29. doi: 10.1002/ar.22579. Review. Erratum in: Anat Rec (Hoboken). 2015 Nov;298(11):1815.


Plasticity in the developing auditory cortex: evidence from children with sensorineural hearing loss and auditory neuropathy spectrum disorder.

Cardon G, Campbell J, Sharma A.

J Am Acad Audiol. 2012 Jun;23(6):396-411; quiz 495. doi: 10.3766/jaaa.23.6.3. Review.


Autosomal recessive nonsyndromic deafness genes: a review.

Duman D, Tekin M.

Front Biosci (Landmark Ed). 2012 Jun 1;17:2213-36. Review.


Auditory cortical N100 in pre- and post-synaptic auditory neuropathy to frequency or intensity changes of continuous tones.

Dimitrijevic A, Starr A, Bhatt S, Michalewski HJ, Zeng FG, Pratt H.

Clin Neurophysiol. 2011 Mar;122(3):594-604. doi: 10.1016/j.clinph.2010.08.005.


Identification of the hair cell soma-1 antigen, HCS-1, as otoferlin.

Goodyear RJ, Legan PK, Christiansen JR, Xia B, Korchagina J, Gale JE, Warchol ME, Corwin JT, Richardson GP.

J Assoc Res Otolaryngol. 2010 Dec;11(4):573-86. doi: 10.1007/s10162-010-0231-6.


Screening mutations of OTOF gene in Chinese patients with auditory neuropathy, including a familial case of temperature-sensitive auditory neuropathy.

Wang DY, Wang YC, Weil D, Zhao YL, Rao SQ, Zong L, Ji YB, Liu Q, Li JQ, Yang HM, Shen Y, Benedict-Alderfer C, Zheng QY, Petit C, Wang QJ.

BMC Med Genet. 2010 May 26;11:79. doi: 10.1186/1471-2350-11-79.


Epigenetic and immune function profiles associated with posttraumatic stress disorder.

Uddin M, Aiello AE, Wildman DE, Koenen KC, Pawelec G, de Los Santos R, Goldmann E, Galea S.

Proc Natl Acad Sci U S A. 2010 May 18;107(20):9470-5. doi: 10.1073/pnas.0910794107.

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