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A gain-of-function mutation in TRPA1 causes familial episodic pain syndrome.
Kremeyer B, Lopera F, Cox JJ, Momin A, Rugiero F, Marsh S, Woods CG, Jones NG, Paterson KJ, Fricker FR, Villegas A, Acosta N, Pineda-Trujillo NG, Ramírez JD, Zea J, Burley MW, Bedoya G, Bennett DL, Wood JN, Ruiz-Linares A. Kremeyer B, et al. Among authors: pineda trujillo ng. Neuron. 2010 Jun 10;66(5):671-80. doi: 10.1016/j.neuron.2010.04.030. Neuron. 2010. PMID: 20547126 Free PMC article.
A genetic cluster of early onset Parkinson's disease in a Colombian population.
Pineda-Trujillo N, Apergi M, Moreno S, Arias W, Lesage S, Franco A, Sepulveda-Falla D, Cano D, Buriticá O, Pineda D, Uribe CS, de Yebenes JG, Lees AJ, Brice A, Bedoya G, Lopera F, Ruiz-Linares A. Pineda-Trujillo N, et al. Am J Med Genet B Neuropsychiatr Genet. 2006 Dec 5;141B(8):885-9. doi: 10.1002/ajmg.b.30375. Am J Med Genet B Neuropsychiatr Genet. 2006. PMID: 16941654
Mutations in FOXL2 underlying BPES (types 1 and 2) in Colombian families.
Ramírez-Castro JL, Pineda-Trujillo N, Valencia AV, Muñetón CM, Botero O, Trujillo O, Vásquez G, Mora BE, Durango N, Bedoya G, Ruiz-Linares A. Ramírez-Castro JL, et al. Am J Med Genet. 2002 Nov 15;113(1):47-51. doi: 10.1002/ajmg.10741. Am J Med Genet. 2002. PMID: 12400065
21 results