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NLRP3 mutation and cochlear autoinflammation cause syndromic and nonsyndromic hearing loss DFNA34 responsive to anakinra therapy.
Nakanishi H, Kawashima Y, Kurima K, Chae JJ, Ross AM, Pinto-Patarroyo G, Patel SK, Muskett JA, Ratay JS, Chattaraj P, Park YH, Grevich S, Brewer CC, Hoa M, Kim HJ, Butman JA, Broderick L, Hoffman HM, Aksentijevich I, Kastner DL, Goldbach-Mansky R, Griffith AJ. Nakanishi H, et al. Among authors: hoa m. Proc Natl Acad Sci U S A. 2017 Sep 12;114(37):E7766-E7775. doi: 10.1073/pnas.1702946114. Epub 2017 Aug 28. Proc Natl Acad Sci U S A. 2017. PMID: 28847925 Free PMC article.
Mutational and phenotypic spectra of KCNE1 deficiency in Jervell and Lange-Nielsen Syndrome and Romano-Ward Syndrome.
Faridi R, Tona R, Brofferio A, Hoa M, Olszewski R, Schrauwen I, Assir MZK, Bandesha AA, Khan AA, Rehman AU, Brewer C, Ahmed W, Leal SM, Riazuddin S, Boyden SE, Friedman TB. Faridi R, et al. Among authors: hoa m. Hum Mutat. 2019 Feb;40(2):162-176. doi: 10.1002/humu.23689. Epub 2018 Dec 12. Hum Mutat. 2019. PMID: 30461122 Free PMC article.
Supporting cell survival after cochlear implant surgery.
deTorres A, Olszewski RT, Lopez IA, Ishiyama A, Linthicum FH Jr, Hoa M. deTorres A, et al. Among authors: hoa m. Laryngoscope. 2019 Jan;129(1):E36-E40. doi: 10.1002/lary.27539. Epub 2018 Oct 16. Laryngoscope. 2019. PMID: 30325510 Free PMC article.
86 results