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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, Åkesson E, Hedlund E, Laššuthová P, Pascual-Pascual SI, Sevilla T, Kennerson M, Lupo V, Chrast R, Espinós C. Sancho P, et al. Among authors: espinos c. Hum Mol Genet. 2019 May 15;28(10):1629-1644. doi: 10.1093/hmg/ddz006. Hum Mol Genet. 2019. PMID: 30624633
Congenital hypomyelinating neuropathy due to a novel MPZ mutation.
Sevilla T, Lupo V, Sivera R, Marco-Marín C, Martínez-Rubio D, Rivas E, Hernández A, Palau F, Espinós C. Sevilla T, et al. Among authors: espinos c. J Peripher Nerv Syst. 2011 Dec;16(4):347-52. doi: 10.1111/j.1529-8027.2011.00369.x. J Peripher Nerv Syst. 2011. PMID: 22176150 Free article.
Autosomal recessive Charcot-Marie-Tooth neuropathy.
Espinós C, Calpena E, Martínez-Rubio D, Lupo V. Espinós C, et al. Adv Exp Med Biol. 2012;724:61-75. doi: 10.1007/978-1-4614-0653-2_5. Adv Exp Med Biol. 2012. PMID: 22411234 Review.
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. Gouttenoire EA, et al. Among authors: espinos c. Glia. 2013 Jul;61(7):1041-51. doi: 10.1002/glia.22493. Epub 2013 Apr 2. Glia. 2013. PMID: 23553667
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. Sivera R, et al. Among authors: espinos c. Neurology. 2013 Oct 29;81(18):1617-25. doi: 10.1212/WNL.0b013e3182a9f56a. Epub 2013 Sep 27. Neurology. 2013. PMID: 24078732 Free PMC article.
111 results