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The RUSH2A Study: Best-Corrected Visual Acuity, Full-Field Electroretinography Amplitudes, and Full-Field Stimulus Thresholds at Baseline.
Birch DG, Cheng P, Duncan JL, Ayala AR, Maguire MG, Audo I, Cheetham JK, Durham TA, Fahim AT, Ferris FL 3rd, Heon E, Huckfeldt RM, Iannaccone A, Khan NW, Lad EM, Michaelides M, Pennesi ME, Stingl K, Vincent A, Weng CY; Foundation Fighting Blindness Consortium Investigator Group. Birch DG, et al. Among authors: stingl k. Transl Vis Sci Technol. 2020 Oct 8;9(11):9. doi: 10.1167/tvst.9.11.9. eCollection 2020 Oct. Transl Vis Sci Technol. 2020. PMID: 33133772 Free PMC article.
Usher Syndrome and Color Vision.
Kurtenbach A, Hahn G, Kernstock C, Hipp S, Zobor D, Stingl K, Kohl S, Bonnet C, Mohand-Saïd S, Sliesoraityte I, Sahel JA, Audo I, Fakin A, Hawlina M, Testa F, Simonelli F, Petit C, Zrenner E. Kurtenbach A, et al. Among authors: stingl k. Curr Eye Res. 2018 Oct;43(10):1295-1301. doi: 10.1080/02713683.2018.1501804. Epub 2018 Jul 30. Curr Eye Res. 2018. PMID: 30012035
Mutations in the gene PDE6C encoding the catalytic subunit of the cone photoreceptor phosphodiesterase in patients with achromatopsia.
Weisschuh N, Stingl K, Audo I, Biskup S, Bocquet B, Branham K, Burstedt MS, De Baere E, De Vries MJ, Golovleva I, Green A, Heckenlively J, Leroy BP, Meunier I, Traboulsi E, Wissinger B, Kohl S. Weisschuh N, et al. Among authors: stingl k. Hum Mutat. 2018 Oct;39(10):1366-1371. doi: 10.1002/humu.23606. Epub 2018 Aug 22. Hum Mutat. 2018. PMID: 30080950 Free article.
Chromatic Full-Field Stimulus Threshold and Pupillography as Functional Markers for Late-Stage, Early-Onset Retinitis Pigmentosa Caused by CRB1 Mutations.
Stingl KT, Kuehlewein L, Weisschuh N, Biskup S, Cremers FPM, Khan MI, Kelbsch C, Peters T, Ueffing M, Wilhelm B, Zrenner E, Stingl K. Stingl KT, et al. Among authors: stingl k. Transl Vis Sci Technol. 2019 Dec 20;8(6):45. doi: 10.1167/tvst.8.6.45. eCollection 2019 Nov. Transl Vis Sci Technol. 2019. PMID: 31879567 Free PMC article.
Auditory and olfactory findings in patients with USH2A-related retinal degeneration-Findings at baseline from the rate of progression in USH2A-related retinal degeneration natural history study (RUSH2A).
Iannaccone A, Brewer CC, Cheng P, Duncan JL, Maguire MG, Audo I, Ayala AR, Bernstein PS, Bidelman GM, Cheetham JK, Doty RL, Durham TA, Hufnagel RB, Myers MH, Stingl K, Zein WM; Foundation Fighting Blindness Consortium Investigator Group. Iannaccone A, et al. Among authors: stingl k. Am J Med Genet A. 2021 Dec;185(12):3717-3727. doi: 10.1002/ajmg.a.62437. Epub 2021 Jul 30. Am J Med Genet A. 2021. PMID: 34331386 Free PMC article.
The RUSH2A Study: Dark-Adapted Visual Fields in Patients With Retinal Degeneration Associated With Biallelic Variants in the USH2A Gene.
Birch DG, Samarakoon L, Melia M, Duncan JL, Ayala AR, Audo I, Cheetham JK, Durham TA, Iannaccone A, Pennesi ME, Stingl K; Foundation Fighting Blindness Consortium Investigator Group. Birch DG, et al. Among authors: stingl k. Invest Ophthalmol Vis Sci. 2022 Mar 2;63(3):17. doi: 10.1167/iovs.63.3.17. Invest Ophthalmol Vis Sci. 2022. PMID: 35293952 Free PMC article.
227 results