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Catastrophic visual loss in a patient with Friedreich ataxia.
Porter N, Downes SM, Fratter C, Anslow P, Németh AH. Porter N, et al. Among authors: nemeth ah. Arch Ophthalmol. 2007 Feb;125(2):273-4. doi: 10.1001/archopht.125.2.273. Arch Ophthalmol. 2007. PMID: 17296906 No abstract available.
Next-generation sequencing (NGS) as a diagnostic tool for retinal degeneration reveals a much higher detection rate in early-onset disease.
Shanks ME, Downes SM, Copley RR, Lise S, Broxholme J, Hudspith KA, Kwasniewska A, Davies WI, Hankins MW, Packham ER, Clouston P, Seller A, Wilkie AO, Taylor JC, Ragoussis J, Németh AH. Shanks ME, et al. Among authors: nemeth ah. Eur J Hum Genet. 2013 Mar;21(3):274-80. doi: 10.1038/ejhg.2012.172. Epub 2012 Sep 12. Eur J Hum Genet. 2013. PMID: 22968130 Free PMC article.
155 results