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Page 1
Delineating the motor phenotype of SGCE-myoclonus dystonia syndrome.
Vanegas MI, Marcé-Grau A, Martí-Sánchez L, Mellid S, Baide-Mairena H, Correa-Vela M, Cazurro A, Rodríguez C, Toledo L, Fernández-Ramos JA, Pons R, Aguilera-Albesa S, Martí MJ, Eiris J, Iglesias G, De Fabregues O, Maqueda E, Garriz-Luis M, Madruga M, Espinós C, Macaya A, Cabrera JC, Pérez-Dueñas B. Vanegas MI, et al. Among authors: espinos c. Parkinsonism Relat Disord. 2020 Nov;80:165-174. doi: 10.1016/j.parkreldis.2020.09.023. Epub 2020 Sep 21. Parkinsonism Relat Disord. 2020. PMID: 33022436
Clinical rating scale for pantothenate kinase-associated neurodegeneration: A pilot study.
Darling A, Tello C, Martí MJ, Garrido C, Aguilera-Albesa S, Tomás Vila M, Gastón I, Madruga M, González Gutiérrez L, Ramos Lizana J, Pujol M, Gavilán Iglesias T, Tustin K, Lin JP, Zorzi G, Nardocci N, Martorell L, Lorenzo Sanz G, Gutiérrez F, García PJ, Vela L, Hernández Lahoz C, Ortigoza Escobar JD, Martí Sánchez L, Moreira F, Coelho M, Correia Guedes L, Castro Caldas A, Ferreira J, Pires P, Costa C, Rego P, Magalhães M, Stamelou M, Cuadras Pallejà D, Rodríguez-Blazquez C, Martínez-Martín P, Lupo V, Stefanis L, Pons R, Espinós C, Temudo T, Pérez Dueñas B. Darling A, et al. Among authors: espinos c. Mov Disord. 2017 Nov;32(11):1620-1630. doi: 10.1002/mds.27129. Epub 2017 Aug 28. Mov Disord. 2017. PMID: 28845923 Free article.
PLA2G6-associated neurodegeneration: New insights into brain abnormalities and disease progression.
Darling A, Aguilera-Albesa S, Tello CA, Serrano M, Tomás M, Camino-León R, Fernández-Ramos J, Jiménez-Escrig A, Poó P, O'Callaghan M, Ortez C, Nascimento A, Fernández Mesaque RC, Madruga M, Arrabal L, Roldan S, Gómez-Martín H, Garrido C, Temudo T, Jou-Muñoz C, Muchart J, Huisman TAGM, Poretti A, Lupo V, Espinós C, Pérez-Dueñas B. Darling A, et al. Among authors: espinos c. Parkinsonism Relat Disord. 2019 Apr;61:179-186. doi: 10.1016/j.parkreldis.2018.10.013. Epub 2018 Oct 13. Parkinsonism Relat Disord. 2019. PMID: 30340910
Impaired proteasome activity and neurodegeneration with brain iron accumulation in FBXO7 defect.
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-Montáñez Á, Macaya A, Sobrido MJ, Martinez-Vicente M, Pérez-Dueñas B, Espinós C. Correa-Vela M, et al. Among authors: espinos c. Ann Clin Transl Neurol. 2020 Aug;7(8):1436-1442. doi: 10.1002/acn3.51095. Epub 2020 Aug 6. Ann Clin Transl Neurol. 2020. PMID: 32767480 Free PMC article.
NR4A2 Mutations Can Cause Intellectual Disability and Language Impairment With Persistent Dystonia-Parkinsonism.
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. Jesús S, et al. Among authors: espinos c. Neurol Genet. 2021 Jan 21;7(1):e543. doi: 10.1212/NXG.0000000000000543. eCollection 2021 Feb. Neurol Genet. 2021. PMID: 33585677 Free PMC article. No abstract available.
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. Sancho P, et al. Among authors: espinos c. Int J Mol Sci. 2021 Mar 2;22(5):2505. doi: 10.3390/ijms22052505. Int J Mol Sci. 2021. PMID: 33801522 Free PMC article.
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: espinos 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.
113 results