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Year Number of Results
2014 1
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Page 1
Rod bipolar cell dysfunction in POLG retinopathy.
Sanderson KG, Millar E, Tumber A, Klatt R, Sondheimer N, Vincent A. Sanderson KG, et al. Among authors: tumber a. Doc Ophthalmol. 2021 Feb;142(1):111-118. doi: 10.1007/s10633-020-09777-w. Epub 2020 Jun 21. Doc Ophthalmol. 2021. PMID: 32567010
Unique retinal signaling defect in GNB5-related disease.
Shao Z, Tumber A, Maynes J, Tavares E, Kannu P, Heon E, Vincent A. Shao Z, et al. Among authors: tumber a. Doc Ophthalmol. 2020 Jun;140(3):273-277. doi: 10.1007/s10633-019-09735-1. Epub 2019 Nov 12. Doc Ophthalmol. 2020. PMID: 31720979
Retinal Phenotyping of a Murine Model of Lafora Disease.
Vincent A, Ahmed K, Hussein R, Berberovic Z, Tumber A, Zhao X, Minassian BA. Vincent A, et al. Among authors: tumber a. Genes (Basel). 2023 Mar 31;14(4):854. doi: 10.3390/genes14040854. Genes (Basel). 2023. PMID: 37107612 Free PMC article.
Ocular phenotype and electroretinogram abnormalities in Lafora disease and correlation with disease stage.
Orsini A, Ferrari D, Riva A, Santangelo A, Macrì A, Freri E, Canafoglia L, D'Aniello A, Di Gennaro G, Massimetti G, Minetti C, Zara F, Michelucci R, Tumber A, Vincent A, Minassian BA, Striano P. Orsini A, et al. Among authors: tumber a. J Neurol. 2022 Jul;269(7):3597-3604. doi: 10.1007/s00415-022-10974-7. Epub 2022 Feb 20. J Neurol. 2022. PMID: 35184210 Free PMC article.
Deep intronic variant in MVK as a cause for mevalonic aciduria initially presenting as non-syndromic retinitis pigmentosa.
Dvaladze A, Tavares E, Di Scipio M, Nimmo G, Grudzinska-Pechhacker MK, Paton T, Tumber A, Li S, Eileen C, Ertl-Wagner B, Mamak E, Hoffmann G, Marshall CR, Haas D, Mayatepek E, Schulze A, Heon E, Vincent A. Dvaladze A, et al. Among authors: tumber a. Clin Genet. 2022 Dec;102(6):524-529. doi: 10.1111/cge.14207. Epub 2022 Aug 14. Clin Genet. 2022. PMID: 35916082
Comparative Natural History of Visual Function From Patients With Biallelic Variants in BBS1 and BBS10.
Grudzinska Pechhacker MK, Jacobson SG, Drack AV, Scipio MD, Strubbe I, Pfeifer W, Duncan JL, Dollfus H, Goetz N, Muller J, Vincent AL, Aleman TS, Tumber A, Van Cauwenbergh C, De Baere E, Bedoukian E, Leroy BP, Maynes JT, Munier FL, Tavares E, Saleh E, Vincent A, Heon E. Grudzinska Pechhacker MK, et al. Among authors: tumber a. Invest Ophthalmol Vis Sci. 2021 Dec 1;62(15):26. doi: 10.1167/iovs.62.15.26. Invest Ophthalmol Vis Sci. 2021. PMID: 34940782 Free PMC article.
19 results