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Page 1
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: verdu a. 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. Among authors: verdu a. 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.
Potential relationship between genotype and clinical outcome in propionic acidaemia patients.
Pérez-Cerdá C, Merinero B, Rodríguez-Pombo P, Pérez B, Desviat LR, Muro S, Richard E, García MJ, Gangoiti J, Ruiz Sala P, Sanz P, Briones P, Ribes A, Martínez-Pardo M, Campistol J, Pérez M, Lama R, Murga ML, Lema-Garrett T, Verdú A, Ugarte M. Pérez-Cerdá C, et al. Among authors: verdu a. Eur J Hum Genet. 2000 Mar;8(3):187-94. doi: 10.1038/sj.ejhg.5200442. Eur J Hum Genet. 2000. PMID: 10780784
Clinical, biochemical, and molecular studies in pyridoxine-dependent epilepsy. Antisense therapy as possible new therapeutic option.
Pérez B, Gutiérrez-Solana LG, Verdú A, Merinero B, Yuste-Checa P, Ruiz-Sala P, Calvo R, Jalan A, Marín LL, Campos O, Ruiz MÁ, San Miguel M, Vázquez M, Castro M, Ferrer I, Navarrete R, Desviat LR, Lapunzina P, Ugarte M, Pérez-Cerdá C. Pérez B, et al. Among authors: verdu a. Epilepsia. 2013 Feb;54(2):239-48. doi: 10.1111/epi.12083. Epub 2013 Jan 25. Epilepsia. 2013. PMID: 23350806 Free article.
Familial arachnoid cysts.
Arriola G, de Castro P, Verdú A. Arriola G, et al. Among authors: verdu a. Pediatr Neurol. 2005 Aug;33(2):146-8. doi: 10.1016/j.pediatrneurol.2005.02.008. Pediatr Neurol. 2005. PMID: 16087064
58 results