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Page 1
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.
Delineation of the motor disorder of Lesch-Nyhan disease.
Jinnah HA, Visser JE, Harris JC, Verdu A, Larovere L, Ceballos-Picot I, Gonzalez-Alegre P, Neychev V, Torres RJ, Dulac O, Desguerre I, Schretlen DJ, Robey KL, Barabas G, Bloem BR, Nyhan W, De Kremer R, Eddey GE, Puig JG, Reich SG; Lesch-Nyhan Disease International Study Group. Jinnah HA, et al. Brain. 2006 May;129(Pt 5):1201-17. doi: 10.1093/brain/awl056. Epub 2006 Mar 20. Brain. 2006. PMID: 16549399 Free PMC article. Review.
A human neuronal tissue culture model for Lesch-Nyhan disease.
Shirley TL, Lewers JC, Egami K, Majumdar A, Kelly M, Ceballos-Picot I, Seidman MM, Jinnah HA. Shirley TL, et al. J Neurochem. 2007 May;101(3):841-53. doi: 10.1111/j.1471-4159.2007.04472.x. J Neurochem. 2007. PMID: 17448149 Free article.
Consequences of impaired purine recycling in dopaminergic neurons.
Lewers JC, Ceballos-Picot I, Shirley TL, Mockel L, Egami K, Jinnah HA. Lewers JC, et al. Neuroscience. 2008 Mar 27;152(3):761-72. doi: 10.1016/j.neuroscience.2007.10.065. Epub 2008 Jan 17. Neuroscience. 2008. PMID: 18313225 Free PMC article.
Attenuated variants of Lesch-Nyhan disease.
Jinnah HA, Ceballos-Picot I, Torres RJ, Visser JE, Schretlen DJ, Verdu A, Laróvere LE, Chen CJ, Cossu A, Wu CH, Sampat R, Chang SJ, de Kremer RD, Nyhan W, Harris JC, Reich SG, Puig JG; Lesch-Nyhan Disease International Study Group. Jinnah HA, et al. Brain. 2010 Mar;133(Pt 3):671-89. doi: 10.1093/brain/awq013. Epub 2010 Feb 22. Brain. 2010. PMID: 20176575 Free PMC article. Review.
Clinical utility gene card for: Lesch-Nyhan syndrome.
Torres RJ, Puig JG, Ceballos-Picot I. Torres RJ, et al. Eur J Hum Genet. 2011 Jan;19(1):preceeding 118-20. doi: 10.1038/ejhg.2010.109. Epub 2010 Jul 21. Eur J Hum Genet. 2011. PMID: 20648055 Free PMC article. No abstract available.
78 results