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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. 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.
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. Front Neurosci. 2017 Jun 20;11:342. doi: 10.3389/fnins.2017.00342. eCollection 2017. Front Neurosci. 2017. PMID: 28676737 Free PMC article.
Advancing Gene Therapy for PDE6A Retinitis Pigmentosa.
Petersen-Jones SM, Occelli LM, Biel M, Michalakis S. Petersen-Jones SM, et al. Adv Exp Med Biol. 2019;1185:103-107. doi: 10.1007/978-3-030-27378-1_17. Adv Exp Med Biol. 2019. PMID: 31884596
129 results