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Year Number of Results
2012 1
2013 1
2014 5
2015 2
2016 3
2017 3
2018 1
2020 1
2021 1
2023 1

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14 results

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Page 1
New genes involved in Angelman syndrome-like: Expanding the genetic spectrum.
Aguilera C, Gabau E, Ramirez-Mallafré A, Brun-Gasca C, Dominguez-Carral J, Delgadillo V, Laurie S, Derdak S, Padilla N, de la Cruz X, Capdevila N, Spataro N, Baena N, Guitart M, Ruiz A. Aguilera C, et al. PLoS One. 2021 Oct 15;16(10):e0258766. doi: 10.1371/journal.pone.0258766. eCollection 2021. PLoS One. 2021. PMID: 34653234 Free PMC article.
Epilepsy in LAMA2-related muscular dystrophy: An electro-clinico-radiological characterization.
Natera-de Benito D, Muchart J, Itzep D, Ortez C, González-Quereda L, Gallano P, Ramirez A, Aparicio J, Domínguez-Carral J, Carrera-García L, Expósito-Escudero J, Pardo Cardozo N, Cuadras D, Codina A, Jou C, Jimenez-Mallebrera C, Palau F, Colomer J, Arzimanoglou A, Nascimento A, San Antonio-Arce V. Natera-de Benito D, et al. Epilepsia. 2020 May;61(5):971-983. doi: 10.1111/epi.16493. Epub 2020 Apr 8. Epilepsia. 2020. PMID: 32266982
[Neurological symptoms in children with intussusception].
Domínguez-Carral J, Puertas-Martín V, Carreras-Sáez I, Maraña-Pérez AI, Escobar-Delgado T, García-Peñas JJ. Domínguez-Carral J, et al. An Pediatr (Barc). 2014 May;80(5):293-8. doi: 10.1016/j.anpedi.2013.06.034. Epub 2013 Oct 6. An Pediatr (Barc). 2014. PMID: 24103235 Free article. Spanish.
Molecular characterization of congenital myasthenic syndromes in Spain.
Natera-de Benito D, Töpf A, Vilchez JJ, González-Quereda L, Domínguez-Carral J, Díaz-Manera J, Ortez C, Bestué M, Gallano P, Dusl M, Abicht A, Müller JS, Senderek J, García-Ribes A, Muelas N, Evangelista T, Azuma Y, McMacken G, Paipa Merchan A, Rodríguez Cruz PM, Camacho A, Jiménez E, Miranda-Herrero MC, Santana-Artiles A, García-Campos O, Dominguez-Rubio R, Olivé M, Colomer J, Beeson D, Lochmüller H, Nascimento A. Natera-de Benito D, et al. Neuromuscul Disord. 2017 Dec;27(12):1087-1098. doi: 10.1016/j.nmd.2017.08.003. Epub 2017 Aug 18. Neuromuscul Disord. 2017. PMID: 29054425
Retrospective natural history of thymidine kinase 2 deficiency.
Garone C, Taylor RW, Nascimento A, Poulton J, Fratter C, Domínguez-González C, Evans JC, Loos M, Isohanni P, Suomalainen A, Ram D, Hughes MI, McFarland R, Barca E, Lopez Gomez C, Jayawant S, Thomas ND, Manzur AY, Kleinsteuber K, Martin MA, Kerr T, Gorman GS, Sommerville EW, Chinnery PF, Hofer M, Karch C, Ralph J, Cámara Y, Madruga-Garrido M, Domínguez-Carral J, Ortez C, Emperador S, Montoya J, Chakrapani A, Kriger JF, Schoenaker R, Levin B, Thompson JLP, Long Y, Rahman S, Donati MA, DiMauro S, Hirano M. Garone C, et al. J Med Genet. 2018 Aug;55(8):515-521. doi: 10.1136/jmedgenet-2017-105012. Epub 2018 Mar 30. J Med Genet. 2018. PMID: 29602790 Free PMC article.
Prevalence of sleep disorders in patients with neurofibromatosis type 1.
Maraña Pérez AI, Duat Rodríguez A, Soto Insuga V, Domínguez Carral J, Puertas Martín V, González Gutiérrez Solana L. Maraña Pérez AI, et al. Neurologia. 2015 Nov-Dec;30(9):561-5. doi: 10.1016/j.nrl.2014.04.015. Epub 2014 Jun 26. Neurologia. 2015. PMID: 24975344 Free article. English, Spanish.
[Cerebellar cognitive affective syndrome secondary to a cerebellar tumour].
Domínguez-Carral J, Carreras-Sáez I, García-Peñas JJ, Fournier-Del Castillo C, Villalobos-Reales J. Domínguez-Carral J, et al. An Pediatr (Barc). 2015 Jan;82(1):e117-21. doi: 10.1016/j.anpedi.2014.05.002. Epub 2014 Jun 18. An Pediatr (Barc). 2015. PMID: 24954915 Free article. Spanish.
14 results