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Loss of dopamine phenotype among midbrain neurons in Lesch-Nyhan disease.
Göttle M, Prudente CN, Fu R, Sutcliffe D, Pang H, Cooper D, Veledar E, Glass JD, Gearing M, Visser JE, Jinnah HA. Göttle M, et al. Among authors: fu r. Ann Neurol. 2014 Jul;76(1):95-107. doi: 10.1002/ana.24191. Epub 2014 Jun 20. Ann Neurol. 2014. PMID: 24891139 Free PMC article.
Mechanisms for phenotypic variation in Lesch-Nyhan disease and its variants.
Sampat R, Fu R, Larovere LE, Torres RJ, Ceballos-Picot I, Fischbach M, de Kremer R, Schretlen DJ, Puig JG, Jinnah HA. Sampat R, et al. Among authors: fu r. Hum Genet. 2011 Jan;129(1):71-8. doi: 10.1007/s00439-010-0901-9. Epub 2010 Oct 28. Hum Genet. 2011. PMID: 20981450 Free PMC article.
Genotype-phenotype correlations in neurogenetics: Lesch-Nyhan disease as a model disorder.
Fu R, Ceballos-Picot I, Torres RJ, Larovere LE, Yamada Y, Nguyen KV, Hegde M, Visser JE, Schretlen DJ, Nyhan WL, Puig JG, O'Neill PJ, Jinnah HA; Lesch-Nyhan Disease International Study Group. Fu R, et al. Brain. 2014 May;137(Pt 5):1282-303. doi: 10.1093/brain/awt202. Epub 2013 Aug 22. Brain. 2014. PMID: 23975452 Free PMC article. Review.
3,354 results