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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.
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.
Identification of novel mutations in the human HPRT gene.
Nguyen KV, Nyhan WL. Nguyen KV, et al. Among authors: nyhan wl. Nucleosides Nucleotides Nucleic Acids. 2013;32(3):155-60. doi: 10.1080/15257770.2012.742200. Nucleosides Nucleotides Nucleic Acids. 2013. PMID: 23473102
Novel mutations in the human HPRT gene.
Nguyen KV, Naviaux RK, Paik KK, Nyhan WL. Nguyen KV, et al. Among authors: nyhan wl. Nucleosides Nucleotides Nucleic Acids. 2011 Jun;30(6):440-5. doi: 10.1080/15257770.2011.588187. Nucleosides Nucleotides Nucleic Acids. 2011. PMID: 21780909
451 results