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Page 1
Further description of the phenotypic spectrum of neuronal ceroid lipofuscinosis type 11.
Nóbrega PR, Paiva ARB, Amorim Junior AD, Lima PLGSB, Cabral KSS, Barcelos IP, Pessoa ALS, Souza-Lima CFL, Castro MAA, Freua F, Santos ES, Rocha MMV, Maia RE, Araújo RS, Ramos JDG, Resende RG, Carvalho GDS, Valença LPA, Lima de Carvalho JR Jr, Melo ES, Pedroso JL, Barsottini OGP, Houlden H, Kok F, Lynch DS. Nóbrega PR, et al. Among authors: lima de carvalho jr jr. Genet Med. 2024 Oct 9;27(1):101291. doi: 10.1016/j.gim.2024.101291. Online ahead of print. Genet Med. 2024. PMID: 39394881 Free article.
Insights Into PROM1-Macular Disease Using Multimodal Imaging.
Paavo M, Lee W, Parmann R, Lima de Carvalho JR Jr, Zernant J, Tsang SH, Allikmets R, Sparrow JR. Paavo M, et al. Among authors: lima de carvalho jr jr. Invest Ophthalmol Vis Sci. 2023 Apr 3;64(4):27. doi: 10.1167/iovs.64.4.27. Invest Ophthalmol Vis Sci. 2023. PMID: 37093133 Free PMC article.
Expanding the phenotype of TTLL5-associated retinal dystrophy: a case series.
Oh JK, Vargas Del Valle JG, Lima de Carvalho JR Jr, Sun YJ, Levi SR, Ryu J, Yang J, Nagasaki T, Emanuelli A, Rasool N, Allikmets R, Sparrow JR, Izquierdo NJ, Duncan JL, Mahajan VB, Tsang SH. Oh JK, et al. Among authors: lima de carvalho jr jr. Orphanet J Rare Dis. 2022 Apr 1;17(1):146. doi: 10.1186/s13023-022-02295-9. Orphanet J Rare Dis. 2022. PMID: 35365235 Free PMC article.
Extreme Clinical Variability Among Carriers of Pathogenic Variant in SSBP1.
Melo ES, Paiva ARB, de Amorim AD Jr, Lima de Carvalho JR Jr, Bezerra MER, van der Linden V, Lynch DS, Kok F. Melo ES, et al. Among authors: lima de carvalho jr jr. Mov Disord. 2022 Apr;37(4):879-881. doi: 10.1002/mds.28956. Epub 2022 Feb 10. Mov Disord. 2022. PMID: 35142387 No abstract available.
Retinal Manifestations of Mitochondrial Oxidative Phosphorylation Disorders.
Oh JK, Lima de Carvalho JR Jr, Nuzbrokh Y, Ryu J, Chemudupati T, Mahajan VB, Sparrow JR, Tsang SH. Oh JK, et al. Among authors: lima de carvalho jr jr. Invest Ophthalmol Vis Sci. 2020 Oct 1;61(12):12. doi: 10.1167/iovs.61.12.12. Invest Ophthalmol Vis Sci. 2020. PMID: 33049060 Free PMC article.
Quantitative Fundus Autofluorescence in HCQ Retinopathy.
Greenstein VC, Lima de Carvalho JR Jr, Parmann R, Amaro-Quireza L, Lee W, Hood DC, Tsang SH, Sparrow JR. Greenstein VC, et al. Among authors: lima de carvalho jr jr. Invest Ophthalmol Vis Sci. 2020 Sep 1;61(11):41. doi: 10.1167/iovs.61.11.41. Invest Ophthalmol Vis Sci. 2020. PMID: 32976563 Free PMC article.
A mutation in CRX causing pigmented paravenous retinochoroidal atrophy.
Oh JK, Nuzbrokh Y, Lee W, Lima de Carvalho JR Jr, Wang NK, Sparrow JR, Allikmets R, Tsang SH. Oh JK, et al. Among authors: lima de carvalho jr jr. Eur J Ophthalmol. 2022 Jan;32(1):NP235-NP239. doi: 10.1177/1120672120957599. Epub 2020 Sep 14. Eur J Ophthalmol. 2022. PMID: 32927963 Free PMC article.
Optical coherence tomography in the evaluation of retinitis pigmentosa.
Oh JK, Nuzbrokh Y, Lima de Carvalho JR Jr, Ryu J, Tsang SH. Oh JK, et al. Among authors: lima de carvalho jr jr. Ophthalmic Genet. 2020 Oct;41(5):413-419. doi: 10.1080/13816810.2020.1780619. Epub 2020 Jun 19. Ophthalmic Genet. 2020. PMID: 32552399 Free PMC article. Review.
24 results