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Year Number of Results
2014 1
2015 2
2016 2
2019 1
2020 4
2021 3
2022 3
2023 4
2024 2
2025 3
2026 0

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23 results

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Page 1
Disease spectrum and long-term prognosis of patients with BAG3-associated neuromuscular diseases in Europe.
Fernández-Eulate G, Gitiaux C, Thiele S, Jungbluth H, Potulska-Chromik A, Marini-Bettolo C, Davion JB, Morís G, Gallardo E, Olivé M, de Fuenmayor-Fernández de la Hoz CP, Audic F, Isapof A, Walter MC, Angelini C, Bertini E, Schara-Schmidt U, Claeys KG, Dohrn MF, Dembele M, Fer F, Brochier G, Evangelista T, Kostera-Pruszczyk A, Attarian S, Straub V, Domínguez-González C, Vissing J, Richard P, Metay C, Khraiche D, Wahbi K, Stojkovic T. Fernández-Eulate G, et al. Among authors: de fuenmayor fernandez de la hoz cp. Brain. 2025 Dec 4;148(12):4435-4447. doi: 10.1093/brain/awaf223. Brain. 2025. PMID: 40493734 Free PMC article.
Clinical and imaging spectrum of non-congenital dominant ACTN2 myopathy.
Iruzubieta P, Verdú-Díaz J, Töpf A, Luce L, Claeys KG, De Ridder W, González-Quereda L, de Fuenmayor-Fernández de la Hoz CP, Poza JJ, Zulaica M, de Jonghe P, Duff J, Mroczek M, Martín-Jiménez P, Hernández-Laín A, Domínguez-González C, Baets J, Gallano P, Díaz-Manera J, Straub V, López de Munain A, Fernandez-Torron R. Iruzubieta P, et al. Among authors: de fuenmayor fernandez de la hoz cp. J Neurol. 2025 Jan 15;272(2):150. doi: 10.1007/s00415-025-12893-9. J Neurol. 2025. PMID: 39812845
Periodic hemidiaphragmatic paresis: a puzzling diaphragm.
Jiménez-Gómez M, de Fuenmayor-Fernández de la Hoz CP, Hernández-Voth A. Jiménez-Gómez M, et al. Among authors: de fuenmayor fernandez de la hoz cp. Thorax. 2025 Aug 15;80(9):676-677. doi: 10.1136/thorax-2025-223288. Thorax. 2025. PMID: 40461135 No abstract available.
Acute hypokinetic-rigid syndrome following SARS-CoV-2 infection.
Méndez-Guerrero A, Laespada-García MI, Gómez-Grande A, Ruiz-Ortiz M, Blanco-Palmero VA, Azcarate-Diaz FJ, Rábano-Suárez P, Álvarez-Torres E, de Fuenmayor-Fernández de la Hoz CP, Vega Pérez D, Rodríguez-Montalbán R, Pérez-Rivilla A, Sayas Catalán J, Ramos-González A, González de la Aleja J. Méndez-Guerrero A, et al. Among authors: de fuenmayor fernandez de la hoz cp. Neurology. 2020 Oct 13;95(15):e2109-e2118. doi: 10.1212/WNL.0000000000010282. Epub 2020 Jul 8. Neurology. 2020. PMID: 32641525
Spinal puncture through a large lumbar tattoo.
García-Bellido Ruiz S, Santos Martín C, Herrero San Martín A, de Fuenmayor Fernández de la Hoz CP. García-Bellido Ruiz S, et al. Among authors: de fuenmayor fernandez de la hoz cp. Pract Neurol. 2024 Nov 17;24(6):522-523. doi: 10.1136/pn-2024-004194. Pract Neurol. 2024. PMID: 38960594 No abstract available.
SOD1 mutations in adult-onset distal spinal muscular atrophy.
de Fuenmayor-Fernández de la Hoz CP, Hernández-Laín A, Olivé M, Arteche López A, Esteban J, Domínguez-González C. de Fuenmayor-Fernández de la Hoz CP, et al. Eur J Neurol. 2020 Nov;27(11):e75-e76. doi: 10.1111/ene.14426. Epub 2020 Jul 28. Eur J Neurol. 2020. PMID: 32619288 No abstract available.
Muscle MRI characteristic pattern for late-onset TK2 deficiency diagnosis.
Domínguez-González C, Fernández-Torrón R, Moore U, de Fuenmayor-Fernández de la Hoz CP, Vélez-Gómez B, Cabezas JA, Alonso-Pérez J, González-Mera L, Olivé M, García-García J, Moris G, León Hernández JC, Muelas N, Servian-Morilla E, Martin MA, Díaz-Manera J, Paradas C. Domínguez-González C, et al. Among authors: de fuenmayor fernandez de la hoz cp. J Neurol. 2022 Jul;269(7):3550-3562. doi: 10.1007/s00415-021-10957-0. Epub 2022 Mar 14. J Neurol. 2022. PMID: 35286480 Free PMC article.
Distal myopathy due to digenic inheritance of TIA1 and SQSTM1 variants in two unrelated Spanish patients.
Bermejo-Guerrero L, de Fuenmayor Fernández-de la Hoz CP, González-Quereda L, Segarra-Casas A, Nedkova V, Gallano P, Martín-Jiménez P, Hernández-Laín A, Olivé M, Arteche-López A, Domínguez-González C. Bermejo-Guerrero L, et al. Among authors: de fuenmayor fernandez de la hoz cp. Neuromuscul Disord. 2023 Dec;33(12):983-987. doi: 10.1016/j.nmd.2023.10.016. Epub 2023 Oct 30. Neuromuscul Disord. 2023. PMID: 38016875
Adult-onset nemaline myopathy due to a novel homozygous variant in the TNNT1 gene.
Martín-Jiménez P, Fuenmayor-Fernández de la Hoz CP, Hernández-Laín A, Arteche-López A, Quesada-Espinosa JF, Voth AH, Vesperinas A, Olivé M, Domínguez-González C. Martín-Jiménez P, et al. Among authors: fuenmayor fernandez de la hoz cp. Muscle Nerve. 2022 Oct;66(4):E13-E15. doi: 10.1002/mus.27678. Epub 2022 Jul 27. Muscle Nerve. 2022. PMID: 35833674 No abstract available.
23 results