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Page 1
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: marco marin 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.
Correction: The structural role of SARS-CoV-2 genetic background in the emergence and success of spike mutations: The case of the spike A222V mutation.
Ginex T, Marco-Marín C, Wieczór M, Mata CP, Krieger J, Ruiz-Rodriguez P, López-Redondo ML, Francés-Gómez C, Melero R, Sánchez-Sorzano CÓ, Martínez M, Gougeard N, Forcada-Nadal A, Zamora-Caballero S, Gozalbo-Rovira R, Sanz-Frasquet C, Arranz R, Bravo J, Rubio V, Marina A; IBV-Covid19-Pipeline; Geller R, Comas I, Gil C, Coscolla M, Orozco M, Llácer JL, Carazo JM. Ginex T, et al. Among authors: marco marin c. PLoS Pathog. 2022 Nov 23;18(11):e1010995. doi: 10.1371/journal.ppat.1010995. eCollection 2022 Nov. PLoS Pathog. 2022. PMID: 36417341 Free PMC article.
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. 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.
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. Sancho P, et al. Neurogenetics. 2017 Dec;18(4):245-250. doi: 10.1007/s10048-017-0524-6. Epub 2017 Oct 3. Neurogenetics. 2017. PMID: 28975462
A novel TRMT5 mutation causes a complex inherited neuropathy syndrome: The role of nerve pathology in defining a demyelinating neuropathy.
Argente-Escrig H, Vílchez JJ, Frasquet M, Muelas N, Azorín I, Vílchez R, Millet-Sancho E, Pitarch I, Tomás-Vila M, Vázquez-Costa JF, Mas-Estellés F, Marco-Marín C, Espinós C, Serrano-Lorenzo P, Martin MA, Lupo V, Sevilla T. Argente-Escrig H, et al. Among authors: marco marin c. Neuropathol Appl Neurobiol. 2022 Aug;48(5):e12817. doi: 10.1111/nan.12817. Epub 2022 Apr 10. Neuropathol Appl Neurobiol. 2022. PMID: 35342985
Protein misfolding and clearance in the pathogenesis of a new infantile onset ataxia caused by mutations in PRDX3.
Martínez-Rubio D, Rodríguez-Prieto Á, 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. Martínez-Rubio D, et al. Among authors: marco marin c. Hum Mol Genet. 2022 Nov 10;31(22):3897-3913. doi: 10.1093/hmg/ddac146. Hum Mol Genet. 2022. PMID: 35766882 Free PMC article.
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: marco marin 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.
28 results