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Year Number of Results
2014 1
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2019 1
2020 3
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2023 4
2024 1

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18 results

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Page 1
Serum GDF-15 Levels Accurately Differentiate Patients with Primary Mitochondrial Myopathy, Manifesting with Exercise Intolerance and Fatigue, from Patients with Chronic Fatigue Syndrome.
Bermejo-Guerrero L, de Fuenmayor-Fernández de la Hoz CP, Guerrero-Molina MP, Martín-Jiménez P, Blázquez A, Serrano-Lorenzo P, Lora D, Morales-Conejo M, González-Martínez I, López-Jiménez EA, Martín MA, Domínguez-González C. Bermejo-Guerrero L, et al. Among authors: de fuenmayor fernandez de la hoz cp. J Clin Med. 2023 Mar 22;12(6):2435. doi: 10.3390/jcm12062435. J Clin Med. 2023. PMID: 36983435 Free PMC article.
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
Distal hereditary motor neuronopathy as a new phenotype associated with variants in BAG3.
de Fuenmayor-Fernández de la Hoz CP, Lupo V, Bermejo-Guerrero L, Martín-Jiménez P, Hernández-Laín A, Olivé M, Gallardo E, Esteban-Pérez J, Espinós C, Domínguez-González C. de Fuenmayor-Fernández de la Hoz CP, et al. J Neurol. 2024 Feb;271(2):986-994. doi: 10.1007/s00415-023-12039-9. Epub 2023 Oct 31. J Neurol. 2024. PMID: 37907725
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.
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.
Delayed Diagnosis of Congenital Myasthenic Syndromes Erroneously Interpreted as Mitochondrial Myopathies.
Muñoz-García MI, Guerrero-Molina MP, de Fuenmayor-Fernández de la Hoz CP, Bermejo-Guerrero L, Arteche-López A, Hernández-Laín A, Martín MA, Domínguez-González C. Muñoz-García MI, et al. Among authors: de fuenmayor fernandez de la hoz cp. J Clin Med. 2023 May 6;12(9):3308. doi: 10.3390/jcm12093308. J Clin Med. 2023. PMID: 37176748 Free PMC article.
Metrics of progression and prognosis in untreated adults with thymidine kinase 2 deficiency: An observational study.
Domínguez-González C, Hernández-Voth A, de Fuenmayor-Fernández de la Hoz CP, Guerrero LB, Morís G, García-García J, Muelas N, León Hernández JC, Rabasa M, Lora D, Blázquez A, Arenas J, Martin MÁ. Domínguez-González C, et al. Among authors: de fuenmayor fernandez de la hoz cp. Neuromuscul Disord. 2022 Sep;32(9):728-735. doi: 10.1016/j.nmd.2022.07.399. Epub 2022 Jul 16. Neuromuscul Disord. 2022. PMID: 35907766 Free article.
Recurrent rhabdomyolysis and exercise intolerance: A new phenotype of late-onset thymidine kinase 2 deficiency.
de Fuenmayor-Fernández de la Hoz CP, Morís G, Jiménez-Mallebrera C, Badosa C, Hernández-Laín A, Blázquez Encinar A, Martín MÁ, Domínguez-González C. de Fuenmayor-Fernández de la Hoz CP, et al. Mol Genet Metab Rep. 2021 Jan 6;26:100701. doi: 10.1016/j.ymgmr.2020.100701. eCollection 2021 Mar. Mol Genet Metab Rep. 2021. PMID: 33457207 Free PMC article.
18 results