Selected Publications
Characterization of molecular mechanisms underlying the axonal Charcot-Marie-Tooth neuropathy caused by MORC2 mutations
Sancho P#, Bartesaghi L#, Miossec O, García-García F, Ramírez-Jiménez L, Siddell A, Akersson E, Hedlund E, Lassuthova P, Pascual-Pascual SI, Sevilla T, Kennerson M, Lupo V&, Chrast R&*, Espinós C&*
Hum Mol Genet 2019; 28: 1629-44.
Characterizing the phenotype and mode of inheritance of patients with inherited neuropathies carrying MME mutations
Lupo V#*, Frasquet M#, Sánchez-Monteagudo A, Pelayo-Negro A, García-Sobrino T, Sedano MJ, Pardo J, Misiego M, García-García J, Sobrido MJ, Martínez-Rubio D, Chumillas MJ, Vílchez JJ, Vázquez-Costa JF, Espinós C&, Sevilla T&*
J Med Genet 2018; 55: 814-23.
Calpena E, López Del Amo V, Chakraborty M, Llamusí B, Artero R, Espinós C#, Galindo MI#.
Dis Model Mech 2018; 11: doi: 10.1242/dmm.029082.
Sancho P, Sánchez-Monteagudo A, Collado A, Marco-Marín C, Domínguez-González C, Camacho A, Knecht E, Espinós C*, Lupo V.
Neurogenetics 2017; 18: 245-50.
Tello C, Darling A, Lupo V, Ortez CI, Pérez-Dueñas B, Espinós C*.
The EGR2 gene is involved in axonal Charcot-Marie-Tooth disease.
Eur J Neurol 2015; 22: 1548-55.
Calpena E, Palau F, Espinós C, Galindo MI.
PLoS One 2015;10:e0134106
Pla-Martín D#, Calpena E, Lupo V, Márquez C, Rivas E, Sivera R, Sevilla T, Palau F#, Espinós C#*.
Hum Mol Genet 2015; 24: 213-29
Charcot-Marie-Tooth disease: Genetic and clinical spectrum in a Spanish clinical series.
Sivera R, Sevilla T, Vílchez JJ, Martínez-Rubio D, Chumillas MJ, Vázquez JF, Muelas N, Bataller L, Millán JM, Palau F, Espinós C.
Neurology 2013; 246: 153-8
Sh3tc2 deficiency affects neuregulin-1/ErbB signaling.
Gouttenoire EA, Lupo V, Calpena E, Bartesaghi L, Schüpfer F, Médard JJ, Maurer F, Beckmann JS, Senderek J, Palau F, Espinós C#, Chrast R#*.
Glia 2013; 61: 1041-51
Sevilla T, Martínez-Rubio D, Márquez C, Paradas C, Colomer J, Jaijo T, Millán JM, Palau F, Espinós C*.
Clin Genet 2013; 83: 565-70
Lupo V, Galindo MI, Martínez-Rubio D, Sevilla T, Vílchez JJ, Palau F, Espinós C.
Hum Mol Genet 2009; 18: 4603-14