Enfermedades Raras Neurodegenerativas

Selected Publications

 

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.

A newly distal hereditary motor neuropathy caused by a rare AIFM1 mutation 

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. 

Twin-sisters with PLA2G6-associated neurodegeneration due to paternal isodisomy of the chromosome 22 following in vitro fertilization.

Tello C, Darling A, Lupo V, Ortez CI, Pérez-Dueñas B, Espinós C*.

Clin Genet 2017;92: 117-18. 

 

Assessment of targeted next generation sequencing as a tool for the diagnosis of Charcot-Marie-Tooth and hereditary motor neuropathy.

Lupo V, García-García F, Sancho P, Tello C, García-Romero M, Villarreal L, Alberti A, Sivera R, Dopazo J, Pascual-Pascual SI, Márquez-Infante C, Casasnovas C, Sevilla T, Espinós C*.
J Mol Diagn 2016; 18: 225-34.

Mutations in the MORC2 gene cause axonal Charcot-Marie-Tooth disease.

Sevilla T, Lupo V, Martínez-Rubio D, Sancho P, Sivera R, Chumillas MJ, García-Romero M, Pascual-Pascual SI, Muelas N, Dopazo J, Vílchez JJ, Palau F, Espinós C*.
 Brain 2016; 139: 62-72.

 

Sevilla T, Sivera R, Martínez-Rubio D, Lupo V, Chumillas MJ, Calpena E, Dopazo J, Vílchez JJ, Palau F, Espinós*.

Eur J Neurol 2015; 22: 1548-55.

Junctophilin-1 is a modifier gene of GDAP1-related Charcot-Marie-Tooth disease. 

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

Genetics of the Charcot-Marie-Tooth disease in the Spanish Gypsy population: the hereditary motor and sensory neuropathy-Russe in depth.

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

Missense mutations in the SH3TC2 protein causing Charcot-Marie-Tooth disease type 4C affect its localization in the plasma membrane and endocytic pathway.

Lupo V, Galindo MI, Martínez-Rubio D, Sevilla T, Vílchez JJ, Palau F, Espinós C.

Hum Mol Genet 2009; 18: 4603-14

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