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2. Cochlin in normal middle ear and abnormal middle ear deposits in DFNA9 and Coch (G88E/G88E) mice. Robertson NG, O'Malley JT, Ong CA, Giersch AB, Shen J, Stankovic KM, Morton CC. J Assoc Res Otolaryngol; 2014 Dec; 15(6):961-74. PubMed ID: 25049087 [Abstract] [Full Text] [Related]
5. Histopathology of the Human Inner Ear in the p.L114P COCH Mutation (DFNA9). Burgess BJ, O'Malley JT, Kamakura T, Kristiansen K, Robertson NG, Morton CC, Nadol JB. Audiol Neurootol; 2016 Dec; 21(2):88-97. PubMed ID: 27023102 [Abstract] [Full Text] [Related]
6. Hearing and vestibular deficits in the Coch(-/-) null mouse model: comparison to the Coch(G88E/G88E) mouse and to DFNA9 hearing and balance disorder. Jones SM, Robertson NG, Given S, Giersch AB, Liberman MC, Morton CC. Hear Res; 2011 Feb; 272(1-2):42-8. PubMed ID: 21073934 [Abstract] [Full Text] [Related]
7. On the pathophysiology of DFNA9: Effect of pathogenic variants in the COCH gene on inner ear functioning in human and transgenic mice. Verdoodt D, Van Camp G, Ponsaerts P, Van Rompaey V. Hear Res; 2021 Mar 01; 401():108162. PubMed ID: 33421658 [Abstract] [Full Text] [Related]
8. Novel COCH p.V123E Mutation, Causative of DFNA9 Sensorineural Hearing Loss and Vestibular Disorder, Shows Impaired Cochlin Post-Translational Cleavage and Secretion. Jung J, Kim HS, Lee MG, Yang EJ, Choi JY. Hum Mutat; 2015 Dec 01; 36(12):1168-75. PubMed ID: 26256111 [Abstract] [Full Text] [Related]
9. Histopathology of the inner ear in DFNA9. Merchant SN, Linthicum FH, Nadol JB. Adv Otorhinolaryngol; 2000 Dec 01; 56():212-7. PubMed ID: 10868238 [No Abstract] [Full Text] [Related]
10. Subcellular localisation, secretion, and post-translational processing of normal cochlin, and of mutants causing the sensorineural deafness and vestibular disorder, DFNA9. Robertson NG, Hamaker SA, Patriub V, Aster JC, Morton CC. J Med Genet; 2003 Jul 01; 40(7):479-86. PubMed ID: 12843317 [Abstract] [Full Text] [Related]
11. DFNA9 is a progressive audiovestibular dysfunction with a microfibrillar deposit in the inner ear. Khetarpal U. Laryngoscope; 2000 Aug 01; 110(8):1379-84. PubMed ID: 10942145 [Abstract] [Full Text] [Related]
12. Mutations in a novel cochlear gene cause DFNA9, a human nonsyndromic deafness with vestibular dysfunction. Robertson NG, Lu L, Heller S, Merchant SN, Eavey RD, McKenna M, Nadol JB, Miyamoto RT, Linthicum FH, Lubianca Neto JF, Hudspeth AJ, Seidman CE, Morton CC, Seidman JG. Nat Genet; 1998 Nov 01; 20(3):299-303. PubMed ID: 9806553 [Abstract] [Full Text] [Related]
15. Distinct vestibular phenotypes in DFNA9 families with COCH variants. Kim BJ, Kim AR, Han KH, Rah YC, Hyun J, Ra BS, Koo JW, Choi BY. Eur Arch Otorhinolaryngol; 2016 Oct 01; 273(10):2993-3002. PubMed ID: 26758463 [Abstract] [Full Text] [Related]
16. [From gene to disease; a progressive cochlear-vestibular dysfunction with onset in middle-age (DFNA9)]. Cremers CW, Kemperman MH, Bom SJ, Huygen PL, Verhagen WI, Kremer JM. Ned Tijdschr Geneeskd; 2005 Nov 19; 149(47):2619-21. PubMed ID: 16355574 [Abstract] [Full Text] [Related]
17. A Pro51Ser mutation in the COCH gene is associated with late onset autosomal dominant progressive sensorineural hearing loss with vestibular defects. de Kok YJ, Bom SJ, Brunt TM, Kemperman MH, van Beusekom E, van der Velde-Visser SD, Robertson NG, Morton CC, Huygen PL, Verhagen WI, Brunner HG, Cremers CW, Cremers FP. Hum Mol Genet; 1999 Feb 19; 8(2):361-6. PubMed ID: 9931344 [Abstract] [Full Text] [Related]