Genética y Genómica de Enfermedades Neuromusculares y Neurodegenerativas

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. 

 

The Drosophila junctophilin gene is functionally equivalent to its four mamalian counterparts and 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.
 

The EGR2 gene is involved in axonal Charcot-Marie-Tooth disease.

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.

Evolutionary History of the Smyd Gene Family in Metazoans: A Framework to Identify the Orthologs of Human Smyd Genes in Drosophila and Other Animal Species.

Calpena E, Palau F, Espinós C, Galindo MI.

PLoS One 2015;10:e0134106

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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