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2014 3
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Page 1
Detailed Phenotyping and Therapeutic Strategies for Intronic ABCA4 Variants in Stargardt Disease.
Khan M, Arno G, Fakin A, Parfitt DA, Dhooge PPA, Albert S, Bax NM, Duijkers L, Niblock M, Hau KL, Bloch E, Schiff ER, Piccolo D, Hogden MC, Hoyng CB, Webster AR, Cremers FPM, Cheetham ME, Garanto A, Collin RWJ. Khan M, et al. Among authors: bax nm. Mol Ther Nucleic Acids. 2020 Sep 4;21:412-427. doi: 10.1016/j.omtn.2020.06.007. Epub 2020 Jun 12. Mol Ther Nucleic Acids. 2020. PMID: 32653833 Free PMC article.
Late-Onset Stargardt Disease Due to Mild, Deep-Intronic ABCA4 Alleles.
Runhart EH, Valkenburg D, Cornelis SS, Khan M, Sangermano R, Albert S, Bax NM, Astuti GDN, Gilissen C, Pott JR, Verheij JBGM, Blokland EAW, Cremers FPM, van den Born LI, Hoyng CB. Runhart EH, et al. Among authors: bax nm. Invest Ophthalmol Vis Sci. 2019 Oct 1;60(13):4249-4256. doi: 10.1167/iovs.19-27524. Invest Ophthalmol Vis Sci. 2019. PMID: 31618761
Highly Variable Disease Courses in Siblings with Stargardt Disease.
Valkenburg D, Runhart EH, Bax NM, Liefers B, Lambertus SL, Sánchez CI, Cremers FPM, Hoyng CB. Valkenburg D, et al. Among authors: bax nm. Ophthalmology. 2019 Dec;126(12):1712-1721. doi: 10.1016/j.ophtha.2019.07.010. Epub 2019 Jul 16. Ophthalmology. 2019. PMID: 31522899
Foveal Sparing in Central Retinal Dystrophies.
Bax NM, Valkenburg D, Lambertus S, Klevering BJ, Boon CJF, Holz FG, Cremers FPM, Fleckenstein M, Hoyng CB, Lindner M; Foveal Sparing Atrophy Study Team (FAST). Bax NM, et al. Invest Ophthalmol Vis Sci. 2019 Aug 1;60(10):3456-3467. doi: 10.1167/iovs.18-26533. Invest Ophthalmol Vis Sci. 2019. PMID: 31398255
The absence of fundus abnormalities in Stargardt disease.
Bax NM, Lambertus S, Cremers FPM, Klevering BJ, Hoyng CB. Bax NM, et al. Graefes Arch Clin Exp Ophthalmol. 2019 Jun;257(6):1147-1157. doi: 10.1007/s00417-019-04280-8. Epub 2019 Mar 22. Graefes Arch Clin Exp Ophthalmol. 2019. PMID: 30903310
Deep-intronic ABCA4 variants explain missing heritability in Stargardt disease and allow correction of splice defects by antisense oligonucleotides.
Sangermano R, Garanto A, Khan M, Runhart EH, Bauwens M, Bax NM, van den Born LI, Khan MI, Cornelis SS, Verheij JBGM, Pott JR, Thiadens AAHJ, Klaver CCW, Puech B, Meunier I, Naessens S, Arno G, Fakin A, Carss KJ, Raymond FL, Webster AR, Dhaenens CM, Stöhr H, Grassmann F, Weber BHF, Hoyng CB, De Baere E, Albert S, Collin RWJ, Cremers FPM. Sangermano R, et al. Among authors: bax nm. Genet Med. 2019 Aug;21(8):1751-1760. doi: 10.1038/s41436-018-0414-9. Epub 2019 Jan 15. Genet Med. 2019. PMID: 30643219 Free PMC article.
The Common ABCA4 Variant p.Asn1868Ile Shows Nonpenetrance and Variable Expression of Stargardt Disease When Present in trans With Severe Variants.
Runhart EH, Sangermano R, Cornelis SS, Verheij JBGM, Plomp AS, Boon CJF, Lugtenberg D, Roosing S, Bax NM, Blokland EAW, Jacobs-Camps MHM, van der Velde-Visser SD, Pott JR, Rohrschneider K, Thiadens AAHJ, Klaver CCW, van den Born LI, Hoyng CB, Cremers FPM. Runhart EH, et al. Among authors: bax nm. Invest Ophthalmol Vis Sci. 2018 Jul 2;59(8):3220-3231. doi: 10.1167/iovs.18-23881. Invest Ophthalmol Vis Sci. 2018. PMID: 29971439
24 results