Assessment of targeted next-generation sequencing as a tool for the diagnosis of Charcot-Marie-Tooth disease and hereditary motor neuropathy V Lupo, F García-García, P Sancho, C Tello, M García-Romero, ... The Journal of molecular diagnostics 18 (2), 225-234, 2016 | 45 | 2016 |
Distribution and genotype-phenotype correlation of GDAP1 mutations in Spain R Sivera, M Frasquet, V Lupo, T García-Sobrino, P Blanco-Arias, J Pardo, ... Scientific reports 7 (1), 1-10, 2017 | 35 | 2017 |
A novel MYH7 founder mutation causing Laing distal myopathy in Southern Spain P Carbonell-Corvillo, E Tristan-Clavijo, M Cabrera-Serrano, ... Neuromuscular Disorders 28 (10), 828-836, 2018 | 14 | 2018 |
Absence of HINT1 mutations in a UK and Spanish cohort of patients with inherited neuropathies A Horga, E Cottenie, PJ Tomaselli, R Rojas-García, M Salvado, ... Journal of neurology 262 (8), 1984-1986, 2015 | 12 | 2015 |