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Diagnosis of Genetic White Matter Disorders by Singleton Whole-Exome and Genome Sequencing Using Interactome-Driven Prioritization.
Schlüter A, Rodríguez-Palmero A, Verdura E, Vélez-Santamaría V, Ruiz M, Fourcade S, Planas-Serra L, Martínez JJ, Guilera C, Girós M, Artuch R, Yoldi ME, O'Callaghan M, García-Cazorla A, Armstrong J, Marti I, Mondragón Rezola E, Redin C, Mandel JL, Conejo D, Sierra-Córcoles C, Beltrán S, Gut M, Vázquez E, Del Toro M, Troncoso M, Pérez-Jurado LA, Gutiérrez-Solana LG, López de Munain A, Casasnovas C, Aguilera-Albesa S, Macaya A, Pujol A; GWMD working group. Schlüter A, et al. Among authors: vazquez e. Neurology. 2022 Mar 1;98(9):e912-e923. doi: 10.1212/WNL.0000000000013278. Epub 2022 Jan 10. Neurology. 2022. PMID: 35012964 Free PMC article.
Central hypoventilation and brainstem dysgenesis.
Armangue T, Macaya A, Vazquez E, Jurado MJ, Roig-Quilis M. Armangue T, et al. Among authors: vazquez e. Pediatr Neurol. 2012 Apr;46(4):257-9. doi: 10.1016/j.pediatrneurol.2012.02.011. Pediatr Neurol. 2012. PMID: 22490775
Delineating the neurological phenotype in children with defects in the ECHS1 or HIBCH gene.
Marti-Sanchez L, Baide-Mairena H, Marcé-Grau A, Pons R, Skouma A, López-Laso E, Sigatullina M, Rizzo C, Semeraro M, Martinelli D, Carrozzo R, Dionisi-Vici C, González-Gutiérrez-Solana L, Correa-Vela M, Ortigoza-Escobar JD, Sánchez-Montañez Á, Vazquez É, Delgado I, Aguilera-Albesa S, Yoldi ME, Ribes A, Tort F, Pollini L, Galosi S, Leuzzi V, Tolve M, Pérez-Gay L, Aldamiz-Echevarría L, Del Toro M, Arranz A, Roelens F, Urreizti R, Artuch R, Macaya A, Pérez-Dueñas B. Marti-Sanchez L, et al. Among authors: vazquez e. J Inherit Metab Dis. 2021 Mar;44(2):401-414. doi: 10.1002/jimd.12288. Epub 2020 Aug 16. J Inherit Metab Dis. 2021. PMID: 32677093
Neonatal Alexander disease: MR imaging prenatal diagnosis.
Vázquez E, Macaya A, Mayolas N, Arévalo S, Poca MA, Enríquez G. Vázquez E, et al. AJNR Am J Neuroradiol. 2008 Nov;29(10):1973-5. doi: 10.3174/ajnr.A1215. Epub 2008 Jul 24. AJNR Am J Neuroradiol. 2008. PMID: 18653683 Free PMC article.
[A patient with bilateral lesion in the striatum and slowly progressive dystonia secondary to T14487C mutation in the ND6 gene of complex I of the mitochondrial respiratory chain].
Raspall-Chaure M, Solano A, Vázquez E, Macaya-Ruiz A, del Toro-Riera M, Cabezuelo-Briones A, Montoya J, Andreu A, Roig-Quilis M. Raspall-Chaure M, et al. Among authors: vazquez e. Rev Neurol. 2004 Dec 16-31;39(12):1129-32. Rev Neurol. 2004. PMID: 15625630 Free article. Spanish.
1,029 results