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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1994 3
1996 3
1997 1
1998 7
2000 4
2001 1
2003 4
2004 6
2005 3
2006 6
2007 3
2008 9
2009 8
2010 11
2011 5
2012 8
2013 7
2014 16
2015 2
2016 7
2017 6
2018 5
2019 3
2020 5
2021 4
2022 2
2023 3
2024 1

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126 results

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Page 1
Cation leak through the ATP1A3 pump causes spasticity and intellectual disability.
Calame DG, Moreno Vadillo C, Berger S, Lotze T, Shinawi M, Poupak J, Heller C, Cohen J, Person R, Telegrafi A, Phitsanuwong C, Fiala K, Thiffault I, Del Viso F, Zhou D, Fleming EA, Pastinen T, Fatemi A, Thomas S, Pascual SI, Torres RJ, Prior C, Gómez-González C, Biskup S, Lupski JR, Maric D, Holmgren M, Regier D, Yano ST. Calame DG, et al. Among authors: torres rj. Brain. 2023 Aug 1;146(8):3162-3171. doi: 10.1093/brain/awad124. Brain. 2023. PMID: 37043503 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. Among authors: torres rj. 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.
Aicar effect in early neuronal development.
Torres RJ, Puig JG. Torres RJ, et al. Nucleosides Nucleotides Nucleic Acids. 2018;37(5):261-272. doi: 10.1080/15257770.2018.1453073. Epub 2018 Apr 10. Nucleosides Nucleotides Nucleic Acids. 2018. PMID: 29634397
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: torres rj. 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. Among authors: torres rj. 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.
126 results