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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
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
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. Neuron. 2010 Jun 10;66(5):671-80. doi: 10.1016/j.neuron.2010.04.030. Neuron. 2010. PMID: 20547126 Free PMC article.
Differential Clinical Features in Colombian Patients With Rolandic Epilepsy and Suggestion of Unlikely Association With GRIN2A, RBFOX1, or RBFOX3 Gene Variants.
Tascón-Arcila J, Rojas-Jiménez S, Cornejo-Sánchez D, Gómez-Builes P, Ucroz-Benavides A, Holguín BM, Restrepo-Arbeláez D, Gómez-Castillo C, Solarte-Mia R, Cornejo-Ochoa W, Pineda-Trujillo N. Tascón-Arcila J, et al. Among authors: pineda trujillo n. J Child Neurol. 2021 Sep;36(10):875-882. doi: 10.1177/08830738211015017. Epub 2021 May 27. J Child Neurol. 2021. PMID: 34039076
24 results