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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. Among authors: jinnah ha. J Neurochem. 2007 May;101(3):841-53. doi: 10.1111/j.1471-4159.2007.04472.x. J Neurochem. 2007. PMID: 17448149 Free article.
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.
Basal ganglia dopamine loss due to defect in purine recycling.
Egami K, Yitta S, Kasim S, Lewers JC, Roberts RC, Lehar M, Jinnah HA. Egami K, et al. Among authors: jinnah ha. Neurobiol Dis. 2007 May;26(2):396-407. doi: 10.1016/j.nbd.2007.01.010. Epub 2007 Feb 8. Neurobiol Dis. 2007. PMID: 17374562 Free PMC 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. Among authors: jinnah ha. 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.
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: jinnah ha. 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. Among authors: jinnah ha. 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.
Transcriptomic approach to Lesch-Nyhan disease.
Dauphinot L, Mockel L, Cahu J, Jinnah HA, Ledroit M, Potier MC, Ceballos-Picot I. Dauphinot L, et al. Among authors: jinnah ha. Nucleosides Nucleotides Nucleic Acids. 2014;33(4-6):208-17. doi: 10.1080/15257770.2014.880477. Nucleosides Nucleotides Nucleic Acids. 2014. PMID: 24940671 Free PMC article.
325 results