Selected Publications
Protein misfolding and clearance in the pathogenesis of a new infantile onset ataxia caused by mutations in PRDX3
Martínez-Rubio D, Rodríguez-Prieto A, Sancho P, Navarro-González C, Gorría-Redondo N, Miquel-Leal J, Marco-Marín C, Jenkins A, Soriano-Navarro M, Hernández A, Pérez-Dueñas B, Fazzari P, Aguilera-Albesa S, Espinós C
Human Molecular Genetics 2022; 31: 3897-3913
Mutations, genes, and phenotypes related to movement disorders and ataxias
Martínez-Rubio D, Hinarejos I, Sancho P, Gorría-Redondo N, Bernadó-Fonz R, Tello C, Marco-Marín C, Martí I, Martinez-Gonzalez MJ, Garcia-Ribes A, Baviera R, Sastre-Bataller I, Martínez-Torres I, Duat-Rodríguez A, Janeiro P, Moreno E, Pías-Peleteiro L, O’Callaghan Gordo M, Ruiz-Gomez A, Muñoz E, Martí MJ, Sánchez-Monteagudo A, Fuster C, Andres-Borderia A, Pons RM, Jesús-Maestre S, Mir P, Lupo V, Pérez-Dueñas B, Darling A, Aguilera-Albesa S, Espinós C
International Journal of Molecular Sciences 2022; 23: 11847
Wilson’s disease: Facing the challenge of diagnosing a rare disease
Sánchez-Monteagudo A, Ripollés E, Berenguer M, Espinós C
Biomedicines 2021, 9, 1097
Expanding the β-III spectrin-associated phenotypes toward non-progressive congenital ataxias with neurodegeneration
Sancho P, Andrés-Bordería A, Gorría-Redondo N, Llano K, Martínez-Rubio D, Yoldi-Petri ME, Blumkin L, Rodríguez de la Fuente P, Gil-Ortiz F, Fernández-Murga L, Sánchez-Monteagudo A, Lupo V, Pérez-Dueñas B, Espinós C*, Aguilera-Albesa S*
International Journal of Molecular Sciences 2021; 22: 2505
NR4A2 is involved in dystonia-parkinsonism with intellectual disability, language impairment and motor tics
Jesús S, Hinarejos I, Carrillo F, Martínez-Rubio D, Macías-García D, Sánchez-Monteagudo A, Adarmes A, Lupo V, Pérez-Dueñas B, Mir P*, Espinós C*
Neurology Genetics 2021: 7: e543
Wilson disease: Revision of diagnostic criteria in a clinical series with great genetic homogeneity
García-Villarreal L, Hernández-Ortega A, Sánchez-Monteagudo A, Peña-Quintana L, Ramírez-Lorenzo T, Riaño M, Moreno-Pérez R, Monescillo A, González-Santana D, Quiñones I, Sánchez-Villegas, Olmo-Quintana V, Garay-Sánchez P, Espinós C, González MJ, Tugores A
Journal of Gastroenterology 2021; 56: 78-89
Are the new genetic tools for diagnosis of Wilson disease helpful in clinical practice?
Espinós C, Ferenci P
Journal of Hepatology Reports 2020; 2: 100114.
Mitochondrial dysfuntcion, oxidative stress and neuroinflammation in neurodegeneration with brain iron accumulation
Hinarejos I, Machuca-Arellano C, Sancho P, Espinós C*
Antioxidants 2020; 9: 1020.
Impaired proteosome activity and neurodegeneration with brain iron accumulation
Correa-Vela M, Lupo V, Montpeyó M, Sancho P, Marcé-Grau A, Hernández-Vara J, Darling A, Jenkins A, Fernández-Rodríguez S, Tello C, Ramírez-Jiménez L, Pérez B, Sánchez A, Sobrido MJ, Martínez-Vicente M, Pérez-Dueñas B*, Espinós C*
Annals of Clinical and Translational Neurology 2020; 7: 1463-42.
Genetics of Wilson disease and Wilson-like phenotype in a clinical series from eastern Spain
Sánchez-Monteagudo A, Álvarez-Sauco M, Sastre I, Martínez-Torres I, Lupo V, Berenguer M, Espinós C*
Clinical Genetics 2020; 97: 758-63.
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 model 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.
The Drosophila junstophilin gene is functionally equivalent to its four mamalian counterparts and it is a modifier of a Huntingtin poly/Q expansion and the Notch pathway.
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*.
Eur J Neurol 2015; 22: 1548-55.
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