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2017 2
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2019 1
2020 2
2021 5
2022 1
2023 1
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12 results

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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: sanchez monteagudo a. Int J Mol Sci. 2022 Oct 6;23(19):11847. doi: 10.3390/ijms231911847. Int J Mol Sci. 2022. PMID: 36233161 Free PMC article.
Distal hereditary motor neuropathies: Mutation spectrum and genotype-phenotype correlation.
Frasquet M, Rojas-García R, Argente-Escrig H, Vázquez-Costa JF, Muelas N, Vílchez JJ, Sivera R, Millet E, Barreiro M, Díaz-Manera J, Turon-Sans J, Cortés-Vicente E, Querol L, Ramírez-Jiménez L, Martínez-Rubio D, Sánchez-Monteagudo A, Espinós C, Sevilla T, Lupo V. Frasquet M, et al. Among authors: sanchez monteagudo a. Eur J Neurol. 2021 Apr;28(4):1334-1343. doi: 10.1111/ene.14700. Epub 2021 Jan 10. Eur J Neurol. 2021. PMID: 33369814
Clinical, biochemical and molecular characterization of Wilson's disease in Moroccan patients.
Lafhal K, Sabir ES, Hakmaoui A, Hammoud M, Aimrane A, Najeh S, Assiri I, Berrachid A, Imad N, Boujemaa CA, Aziz F, El Hanafi FZ, Lalaoui A, Aamri H, Boyko I, Sánchez-Monteagudo A, Espinós C, Sab IA, Aboussair N, Bourrahouat A, Fdil N. Lafhal K, et al. Among authors: sanchez monteagudo a. Mol Genet Metab Rep. 2023 Jun 7;36:100984. doi: 10.1016/j.ymgmr.2023.100984. eCollection 2023 Sep. Mol Genet Metab Rep. 2023. PMID: 37323222 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: sanchez monteagudo a. 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.
Wilson disease: revision of diagnostic criteria in a clinical series with great genetic homogeneity.
García-Villarreal L, Hernández-Ortega A, Sánchez-Monteagudo A, Peña-Quintana L, Ramírez-Lorenzo T, Riaño M, Moreno-Pérez R, Monescillo A, González-Santana D, Quiñones I, Sánchez-Villegas A, Olmo-Quintana V, Garay-Sánchez P, Espinós C, González JM, Tugores A. García-Villarreal L, et al. Among authors: sanchez monteagudo a. J Gastroenterol. 2021 Jan;56(1):78-89. doi: 10.1007/s00535-020-01745-0. Epub 2020 Nov 7. J Gastroenterol. 2021. PMID: 33159804
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: sanchez monteagudo a. Int J Mol Sci. 2021 Mar 2;22(5):2505. doi: 10.3390/ijms22052505. Int J Mol Sci. 2021. PMID: 33801522 Free PMC 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. Among authors: sanchez monteagudo a. Neurogenetics. 2017 Dec;18(4):245-250. doi: 10.1007/s10048-017-0524-6. Epub 2017 Oct 3. Neurogenetics. 2017. PMID: 28975462
12 results