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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1997 1
1998 6
1999 2
2000 4
2001 2
2002 1
2003 1
2005 2
2006 2
2007 2
2008 4
2009 4
2010 4
2011 2
2012 5
2013 6
2014 7
2015 7
2016 5
2017 10
2018 8
2019 4
2020 9
2021 10
2022 4
2023 4
2024 3

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107 results

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Page 1
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.
Molecular diagnosis of coenzyme Q10 deficiency.
Yubero D, Montero R, Armstrong J, Espinós C, Palau F, Santos-Ocaña C, Salviati L, Navas P, Artuch R. Yubero D, et al. Among authors: espinos c. Expert Rev Mol Diagn. 2015;15(8):1049-59. doi: 10.1586/14737159.2015.1062727. Epub 2015 Jul 4. Expert Rev Mol Diagn. 2015. PMID: 26144946 Review.
Chaperonopathies: Spotlight on Hereditary Motor Neuropathies.
Lupo V, Aguado C, Knecht E, Espinós C. Lupo V, et al. Among authors: espinos c. Front Mol Biosci. 2016 Dec 14;3:81. doi: 10.3389/fmolb.2016.00081. eCollection 2016. Front Mol Biosci. 2016. PMID: 28018906 Free PMC article. Review.
Oxidative Stress, a Crossroad Between Rare Diseases and Neurodegeneration.
Espinós C, Galindo MI, García-Gimeno MA, Ibáñez-Cabellos JS, Martínez-Rubio D, Millán JM, Rodrigo R, Sanz P, Seco-Cervera M, Sevilla T, Tapia A, Pallardó FV. Espinós C, et al. Antioxidants (Basel). 2020 Apr 15;9(4):313. doi: 10.3390/antiox9040313. Antioxidants (Basel). 2020. PMID: 32326494 Free PMC article. Review.
Genetic Heterogeneity Underlying Phenotypes with Early-Onset Cerebellar Atrophy.
Martínez-Rubio D, Hinarejos I, Argente-Escrig H, Marco-Marín C, Lozano MA, Gorría-Redondo N, Lupo V, Martí-Carrera I, Miranda C, Vázquez-López M, García-Pérez A, Marco-Hernández AV, Tomás-Vila M, Aguilera-Albesa S, Espinós C. Martínez-Rubio D, et al. Among authors: espinos c. Int J Mol Sci. 2023 Nov 16;24(22):16400. doi: 10.3390/ijms242216400. Int J Mol Sci. 2023. PMID: 38003592 Free PMC article.
Wilson's Disease: Facing the Challenge of Diagnosing a Rare Disease.
Sánchez-Monteagudo A, Ripollés E, Berenguer M, Espinós C. Sánchez-Monteagudo A, et al. Among authors: espinos c. Biomedicines. 2021 Aug 28;9(9):1100. doi: 10.3390/biomedicines9091100. Biomedicines. 2021. PMID: 34572285 Free PMC article. Review.
Clinical spectrum of BICD2 mutations.
Frasquet M, Camacho A, Vílchez R, Argente-Escrig H, Millet E, Vázquez-Costa JF, Silla R, Sánchez-Monteagudo A, Vílchez JJ, Espinós C, Lupo V, Sevilla T. Frasquet M, et al. Among authors: espinos c. Eur J Neurol. 2020 Jul;27(7):1327-1335. doi: 10.1111/ene.14173. Epub 2020 Mar 16. Eur J Neurol. 2020. PMID: 32056343
Autosomal recessive cerebellar ataxias.
Palau F, Espinós C. Palau F, et al. Among authors: espinos c. Orphanet J Rare Dis. 2006 Nov 17;1:47. doi: 10.1186/1750-1172-1-47. Orphanet J Rare Dis. 2006. PMID: 17112370 Free PMC article. Review.
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-Carrera I, Martínez-González MJ, García-Ribes A, Baviera-Muñoz R, Sastre-Bataller I, Martínez-Torres I, Duat-Rodríguez A, Janeiro P, Moreno E, Pías-Peleteiro L, Gordo MO, Ruiz-Gómez Á, Muñoz E, Martí MJ, Sánchez-Monteagudo A, Fuster C, Andrés-Bordería A, Pons RM, Jesús-Maestre S, Mir P, Lupo V, Pérez-Dueñas B, Darling A, Aguilera-Albesa S, Espinós C. Martínez-Rubio D, et al. Among authors: espinos c. Int J Mol Sci. 2022 Oct 6;23(19):11847. doi: 10.3390/ijms231911847. Int J Mol Sci. 2022. PMID: 36233161 Free PMC article.
107 results