Lopez del Amo, V; Palomino-Schätzlein, Martina; Seco-Cervera, Marta; Garcia-Gimenez, José Luis; Pallardó-Calatayud, Federico V.; Pineda-Lucena, Antonio; Galindo-Orozco, Máximo Ibo(Elsevier, 2017)
[EN] Charcot-Marie-Tooth disease is a rare peripheral neuropathy for which there is no specific treatment. Some forms of Charcot-Marie-Tooth are due to mutations in the GDAP1 gene. A striking feature of mutations in GDAP1 ...
Palomino-Schätzlein, Martina; Escrig Aparici, Pablo Vicente; Boira Tortajada, Herminio; Primo Millo, Jaime; Pineda-Lucena, Antonio; Cabedo Escrig, Nuria(American Chemical Society, 2011-10-09)
13C nuclear magnetic resonance (NMR) spectroscopy was explored as a simple and efficient technique for the quantitative analysis of nonpolar metabolites in plants. The method was first optimized with a mixture of known ...