https://orcid.org/0000-0002-8440-2095
References
- Kimberling WJ, Hildebrand MS, Shearer AE, Jensen ML, Halder JA, Trzupek K, Cohn ES, Weleber RG, Stone EM, Smith RJH, et al. Frequency of Usher syndrome in two pediatric populations: implications for genetic screening of deaf and hard of hearing children. Genet Med. 2010;12(8):512–16. doi:10.1097/GIM.0b013e3181e5afb8.
- Mathur P, Yang J. Usher syndrome: hearing loss, retinal degeneration and associated abnormalities. Biochim Biophys Acta. 2014;852(3):406–20.
- Nolen RM, Hufnagel RB, Friedman TB, Turriff AE, Brewer CC, Zalewski CK, King KA, Wafa TT, Griffith AJ, Brooks BP, et al. Atypical and ultra-rare Usher syndrome: a review. Ophthalmic Genet. 2020;41(5):401–12 .doi:10.1080/13816810.2020.1747090.
- Khateb S, Kowalewski B, Bedoni N, Damme M, Pollack N, Saada A, Obolensky A, Ben-Yosef T, Gross M, Dierks T, et al. A homozygous founder missense variant in arylsulfatase G abolishes its enzymatic activity causing atypical Usher syndrome in humans. Genet Med. 2018;20(9):1004–12 .doi:10.1038/gim.2017.227.
- Abad-Morales V, Navarro R, Burés-Jelstrup A, Pomares E, et al. Identification of a novel homozygous mutation as the second cause of Usher syndrome type 4. Am J Ophthalmol Case Rep. 2020;19:100736.
- Sliesoraityte I, Peto T, Mohand-Said S, Sahel JA. Novel grading system for quantification of cystic macular lesions in Usher syndrome. Orphanet J Rare Dis. 2015;10(1):157. doi:10.1186/s13023-015-0372-0.
- Kelley L, Mezulis S, Yates C, Wass MN, Sternberg MJE, et al. The Phyre2 web portal for protein modeling, prediction and analysis. Nat Protoc. 2015;10(6):845–58. doi:10.1038/nprot.2015.053.
- Lukatela G, Krauss N, Theis K, Selmer T, Gieselmann V, von Figura K, Saenger W, et al. Crystal structure of human arylsulfatase A: the aldehyde function and the metal ion at the active site suggest a novel mechanism for sulfate ester hydrolysis. Biochemistry. 1998;37(11):3654–64. doi:10.1021/bi9714924.
- Makiyama Y, Oishi A, Otani A, Ogino K, Nakagawa S, Kurimoto M, Yoshimura N, et al. Prevalence and spatial distribution of cystoid spaces in retinitis pigmentosa: investigation with spectral domain optical coherence tomography. Retina. 2014;34(5):981–88 .doi:10.1097/IAE.0000000000000010.
- Chung Y-R, Kim YH, Lee SY, Byeon H-E, Lee K.Insights into the pathogenesis of cystoid macular edema: leukostasis and related cytokines. Int J Ophthalmol. 2019;12(7):1202–08. doi:10.18240/ijo.2019.07.23.
- Yeo JH, Kim YJ, Yoon YH.Optical coherence tomography angiography in patients with retinitis pigmentosa-associated cystoid macular edema. Retina. 2020;40(12):2385–95. doi:10.1097/IAE.0000000000002756.
- Spaide RF.Volume-rendered optical coherence tomography of diabetic retinopathy pilot study. Am J Ophthalmol. 2015;160(6):1200–10. doi:10.1016/j.ajo.2015.09.010.
- Lugowska A, Płoski R, Włodarski P, Tylki-Szymańska A.Molecular bases of metachromatic leukodystrophy in Polish patients. J Hum Genet. 2010;55(6):394–96. doi:10.1038/jhg.2010.25.