publicaciones seleccionadas
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artículo académico
- Identification of the variant Ala335Val of MED25 as responsible for CMT2B2: molecular data, functional studies of the SH3 recognition motif and correlation between wild-type MED25 and PMP22 RNA levels in CMT1A animal models. Neurogenetics. 10:275-287. 2009
- Late onset autosomal dominant Charcot-Marie-Tooth 2 neuropathy in a Costa Rican family.. Neurological Research. 31:283-288. 2008
- Efficacy and safety of two whole IgG polyvalent antivenoms, refined by caprylic acid fractionation with or without β-propiolactone, in the treatment of Bothrops asper bites in Colombia. Transactions of the Royal Society of Tropical Medicine and Hygiene. 100:1173-1182. 2006
- Clinical and electrophysiological characteristics of autosomal recessive axonal Charcot-Marie-Tooth disease (ARCMT2B) that maps to chromosome 19q13.3. Neuromuscular Disorders. 14:301-306. 2004
- A Second Locus for an Axonal Form of Autosomal Recessive Charcot-Marie-Tooth Disease Maps to Chromosome 19q13.3. The American Journal of Human Genetics. 68:269-274. 2001