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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
2008 1
2010 1
2011 2
2012 2
2013 4
2014 3
2015 1
2016 3
2017 1
2018 1
2019 1
2020 4
2021 4
2022 2
2023 2
2024 1

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25 results

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Page 1
ANO3 and early-onset dyskinetic encephalopathy.
Jiménez de Domingo A, Lopez-Martín S, Albert J, Jiménez de la Peña M, Tirado P, Fernández-Mayoralas DM, Fernández-Perrone AL, Calleja-Pérez B, Martínez-García M, Álvarez S, Fernández-Jaén A. Jiménez de Domingo A, et al. Among authors: jimenez de la pena m. Eur J Med Genet. 2020 Dec;63(12):104085. doi: 10.1016/j.ejmg.2020.104085. Epub 2020 Oct 9. Eur J Med Genet. 2020. PMID: 33045406
Automatic identification of atypical clinical fMRI results.
Jansma JM, Rutten GJ, Ramsey LE, Snijders TJ, Bizzi A, Rosengarth K, Dodoo-Schittko F, Hattingen E, de la Peña MJ, von Campe G, Jehna M, Ramsey NF. Jansma JM, et al. Among authors: de la pena mj. Neuroradiology. 2020 Dec;62(12):1677-1688. doi: 10.1007/s00234-020-02510-z. Epub 2020 Aug 18. Neuroradiology. 2020. PMID: 32812070 Free PMC article.
Mutations in the COL18A1 gen associated with knobloch syndrome and structural brain anomalies: a novel case report and literature review of neuroimaging findings.
Irene Díez García-Prieto I, Lopez-Martín S, Albert J, Jiménez de la Peña M, Fernández-Mayoralas DM, Calleja-Pérez B, Gómez Fernández MT, Álvarez S, Pihlajaniemi T, Izzi V, Fernández-Jaén A. Irene Díez García-Prieto I, et al. Among authors: jimenez de la pena m. Neurocase. 2022 Feb;28(1):11-18. doi: 10.1080/13554794.2021.1928228. Epub 2022 Mar 6. Neurocase. 2022. PMID: 35253627 Review.
Tatton-Brown-Rahman syndrome: Novel pathogenic variants and new neuroimaging findings.
Jiménez de la Peña M, Rincón-Pérez I, López-Martín S, Albert J, Martín Fernández-Mayoralas D, Fernández-Perrone AL, Jiménez de Domingo A, Tirado P, Calleja-Pérez B, Porta J, Álvarez S, Fernández-Jaén A. Jiménez de la Peña M, et al. Am J Med Genet A. 2024 Feb;194(2):211-217. doi: 10.1002/ajmg.a.63434. Epub 2023 Oct 5. Am J Med Genet A. 2024. PMID: 37795572
[Hemiplegic migraine and arterial spin labelling sequence].
Martín Fernández-Mayoralas D, Jiménez de la Peña M, Fernández-Jaén A, Fernández-Perrone AL. Martín Fernández-Mayoralas D, et al. Among authors: jimenez de la pena m. An Pediatr (Barc). 2017 Apr;86(4):232-233. doi: 10.1016/j.anpedi.2016.03.011. Epub 2016 May 24. An Pediatr (Barc). 2017. PMID: 27234821 Free article. Spanish. No abstract available.
Bi-Allelic c.1746G>T; p.Leu582= Variants in TUBGCP4 in a Boy with Autism: Clinical Data and Literature Review.
Martín Fernández-Mayoralas D, Albert J, López-Martín S, de la Peña MJ, Fernández-Perrone AL, Jiménez de Domingo A, Calleja-Pérez B, Martínez-García M, Álvarez S, Fernández-Jaén A. Martín Fernández-Mayoralas D, et al. Among authors: de la pena mj. Mol Syndromol. 2022 Feb;13(2):165-170. doi: 10.1159/000519365. Epub 2021 Dec 2. Mol Syndromol. 2022. PMID: 35418825 Free PMC article.
Neuroimaging Findings in Patients with EBF3 Mutations: Report of Two Cases.
Jiménez de la Peña M, Jiménez de Domingo A, Tirado P, Calleja-Pérez B, Alcaraz LA, Álvarez S, Williams J, Hagman JR, Németh AH, Fernández-Jaén A. Jiménez de la Peña M, et al. Mol Syndromol. 2021 Jun;12(3):186-193. doi: 10.1159/000513583. Epub 2021 Apr 9. Mol Syndromol. 2021. PMID: 34177436 Free PMC article.
White-Matter Lesions and Cortical Cerebral Blood Flow Evaluation by 3D Arterial Spin-Labeled Perfusion MRI in Asymptomatic Divers: Correlation with Patent Foramen Ovale Ocurrence.
Cabrera JÁ, Urmeneta Ulloa J, Jímenez de la Peña M, Rubio Alonso M, López Gavilán M, Bayona Horta S, Pizarro G, Simon K, Migoya T, Martínez de Vega V. Cabrera JÁ, et al. Among authors: jimenez de la pena m. J Clin Med. 2023 Apr 14;12(8):2866. doi: 10.3390/jcm12082866. J Clin Med. 2023. PMID: 37109204 Free PMC article.
Biallelic SYNE2 Missense Mutations Leading to Nesprin-2 Giant Hypo-Expression Are Associated with Intellectual Disability and Autism.
Young N, Asif M, Jackson M, Fernández-Mayoralas DM, de la Peña MJ, Calleja-Pérez B, Álvarez S, Hunter-Featherstone E, Noegel AA, Höhne W, Nürnberg P, Obara B, Hussain MS, Karakesisoglou I, Fernández-Jaén A. Young N, et al. Among authors: de la pena mj. Genes (Basel). 2021 Aug 24;12(9):1294. doi: 10.3390/genes12091294. Genes (Basel). 2021. PMID: 34573277 Free PMC article.
25 results