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Page 1
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
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
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.
Abnormal frontal gyrification pattern and uncinate development in patients with KBG syndrome caused by ANKRD11 aberrations.
Jiménez de la Peña M, Fernández-Mayoralas DM, López-Martín S, Albert J, Calleja-Pérez B, Fernández-Perrone AL, Jiménez de Domingo A, Tirado P, Álvarez S, Fernández-Jaén A. Jiménez de la Peña M, et al. Eur J Paediatr Neurol. 2021 Nov;35:8-15. doi: 10.1016/j.ejpn.2021.09.008. Epub 2021 Sep 16. Eur J Paediatr Neurol. 2021. PMID: 34547584
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.
Mutations in BRAT1 cause autosomal recessive progressive encephalopathy: Report of a Spanish patient.
Fernández-Jaén A, Álvarez S, So EY, Ouchi T, Jiménez de la Peña M, Duat A, Fernández-Mayoralas DM, Fernández-Perrone AL, Albert J, Calleja-Pérez B. Fernández-Jaén A, et al. Among authors: jimenez de la pena m. Eur J Paediatr Neurol. 2016 May;20(3):421-5. doi: 10.1016/j.ejpn.2016.02.009. Epub 2016 Feb 21. Eur J Paediatr Neurol. 2016. PMID: 26947546 Free PMC article.
Cingulate Cortical Thickness and Dopamine Transporter ( DAT1) Genotype in Children and Adolescents With ADHD.
Fernández-Jaén A, Albert J, Fernández-Mayoralas DM, López-Martín S, Fernández-Perrone AL, Jimenez de la Peña M, Calleja-Pérez B, Recio Rodríguez M, López Arribas S. Fernández-Jaén A, et al. Among authors: jimenez de la pena m. J Atten Disord. 2018 May;22(7):651-660. doi: 10.1177/1087054716647483. Epub 2016 May 9. J Atten Disord. 2018. PMID: 27160695
In utero diagnosis of PHACE syndrome by fetal magnetic resonance imaging (MRI).
Fernández-Mayoralas DM, Recio-Rodríguez M, Fernández-Perrone AL, Jiménez-de-la-Peña M, Muñoz-Jareño N, Fernández-Jaén A. Fernández-Mayoralas DM, et al. Among authors: jimenez de la pena m. J Child Neurol. 2014 Jan;29(1):118-21. doi: 10.1177/0883073812467508. Epub 2012 Dec 5. J Child Neurol. 2014. PMID: 23220794
Cortical thickness at the time of the initial attack in two patients with paediatric relapsing-remitting multiple sclerosis.
Fernández-Jaén A, Fernández-Mayoralas DM, Fernández-Perrone AL, Jiménez de la Peña M, Recio Rodríguez M, Calleja-Pérez B, Muñoz Jareño N, Arroyo R, Albert J. Fernández-Jaén A, et al. Among authors: jimenez de la pena m. Eur J Paediatr Neurol. 2014 May;18(3):295-300. doi: 10.1016/j.ejpn.2013.12.002. Epub 2013 Dec 24. Eur J Paediatr Neurol. 2014. PMID: 24393840
31 results