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CNGB1-related rod-cone dystrophy: A mutation review and update.
Nassisi M, Smirnov VM, Solis Hernandez C, Mohand-Saïd S, Condroyer C, Antonio A, Kühlewein L, Kempf M, Kohl S, Wissinger B, Nasser F, Ragi SD, Wang NK, Sparrow JR, Greenstein VC, Michalakis S, Mahroo OA, Ba-Abbad R, Michaelides M, Webster AR, Degli Esposti S, Saffren B, Capasso J, Levin A, Hauswirth WW, Dhaenens CM, Defoort-Dhellemmes S, Tsang SH, Zrenner E, Sahel JA, Petersen-Jones SM, Zeitz C, Audo I. Nassisi M, et al. Among authors: hauswirth ww. Hum Mutat. 2021 Jun;42(6):641-666. doi: 10.1002/humu.24205. Epub 2021 May 16. Hum Mutat. 2021. PMID: 33847019 Free PMC article. Review.
SOD2 knockdown mouse model of early AMD.
Justilien V, Pang JJ, Renganathan K, Zhan X, Crabb JW, Kim SR, Sparrow JR, Hauswirth WW, Lewin AS. Justilien V, et al. Among authors: hauswirth ww. Invest Ophthalmol Vis Sci. 2007 Oct;48(10):4407-20. doi: 10.1167/iovs.07-0432. Invest Ophthalmol Vis Sci. 2007. PMID: 17898259 Free PMC article.
Viral-mediated vision rescue of a novel AIPL1 cone-rod dystrophy model.
Ku CA, Chiodo VA, Boye SL, Hayes A, Goldberg AF, Hauswirth WW, Ramamurthy V. Ku CA, et al. Among authors: hauswirth ww. Hum Mol Genet. 2015 Feb 1;24(3):670-84. doi: 10.1093/hmg/ddu487. Epub 2014 Sep 30. Hum Mol Genet. 2015. PMID: 25274777 Free PMC article.
Vitreal delivery of AAV vectored Cnga3 restores cone function in CNGA3-/-/Nrl-/- mice, an all-cone model of CNGA3 achromatopsia.
Du W, Tao Y, Deng WT, Zhu P, Li J, Dai X, Zhang Y, Shi W, Liu X, Chiodo VA, Ding XQ, Zhao C, Michalakis S, Biel M, Zhang Z, Qu J, Hauswirth WW, Pang JJ. Du W, et al. Among authors: hauswirth ww. Hum Mol Genet. 2015 Jul 1;24(13):3699-707. doi: 10.1093/hmg/ddv114. Epub 2015 Apr 8. Hum Mol Genet. 2015. PMID: 25855802 Free PMC article.
Gene Therapy in a Large Animal Model of PDE6A-Retinitis Pigmentosa.
Mowat FM, Occelli LM, Bartoe JT, Gervais KJ, Bruewer AR, Querubin J, Dinculescu A, Boye SL, Hauswirth WW, Petersen-Jones SM. Mowat FM, et al. Among authors: hauswirth ww. Front Neurosci. 2017 Jun 20;11:342. doi: 10.3389/fnins.2017.00342. eCollection 2017. Front Neurosci. 2017. PMID: 28676737 Free PMC article.
Patients and animal models of CNGβ1-deficient retinitis pigmentosa support gene augmentation approach.
Petersen-Jones SM, Occelli LM, Winkler PA, Lee W, Sparrow JR, Tsukikawa M, Boye SL, Chiodo V, Capasso JE, Becirovic E, Schön C, Seeliger MW, Levin AV, Michalakis S, Hauswirth WW, Tsang SH. Petersen-Jones SM, et al. Among authors: hauswirth ww. J Clin Invest. 2018 Jan 2;128(1):190-206. doi: 10.1172/JCI95161. Epub 2017 Nov 20. J Clin Invest. 2018. PMID: 29202463 Free PMC article.
364 results