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Correction: A novel de novo variant in CASK causes a severe neurodevelopmental disorder that masks the phenotype of a novel de novo variant in EEF2.
Rodríguez-García ME, Cotrina-Vinagre FJ, Olson AN, Sánchez-Calvin MT, de Aragón AM, de Las Heras RS, Dinman JD, de Vries BBA, Nabais Sá MJ, Quijada-Fraile P, Martínez-Azorín F. Rodríguez-García ME, et al. Among authors: de las heras rs. J Hum Genet. 2023 Aug;68(8):577. doi: 10.1038/s10038-023-01164-y. J Hum Genet. 2023. PMID: 37237142 No abstract available.
A novel de novo variant in CASK causes a severe neurodevelopmental disorder that masks the phenotype of a novel de novo variant in EEF2.
Rodríguez-García ME, Cotrina-Vinagre FJ, Olson AN, Sánchez-Calvin MT, de Aragón AM, de Las Heras RS, Dinman JD, de Vries BBA, Nabais Sá MJ, Quijada-Fraile P, Martínez-Azorín F. Rodríguez-García ME, et al. Among authors: de las heras rs. J Hum Genet. 2023 Aug;68(8):543-550. doi: 10.1038/s10038-023-01150-4. Epub 2023 Apr 18. J Hum Genet. 2023. PMID: 37072624
Steroids for familial acute necrotizing encephalopathy: A future investment?
Soriano-Ramos M, Navarro-Abia V, Enamorado NN, Camacho-Salas A, De Aragón AM, García-Hoyos M, de Las Heras RS. Soriano-Ramos M, et al. Among authors: de las heras rs. Clin Neurol Neurosurg. 2018 Nov;174:134-136. doi: 10.1016/j.clineuro.2018.09.014. Epub 2018 Sep 11. Clin Neurol Neurosurg. 2018. PMID: 30241006 No abstract available.
New ATP8A2 gene mutations associated with a novel syndrome: encephalopathy, intellectual disability, severe hypotonia, chorea and optic atrophy.
Martín-Hernández E, Rodríguez-García ME, Camacho A, Matilla-Dueñas A, García-Silva MT, Quijada-Fraile P, Corral-Juan M, Tejada-Palacios P, de Las Heras RS, Arenas J, Martín MA, Martínez-Azorín F. Martín-Hernández E, et al. Among authors: de las heras rs. Neurogenetics. 2016 Oct;17(4):259-263. doi: 10.1007/s10048-016-0496-y. Epub 2016 Sep 28. Neurogenetics. 2016. PMID: 27679995
Posterior reversible encephalopathy syndrome (PRES): a rare condition after resection of posterior fossa tumors: two new cases and review of the literature.
González Quarante LH, Mena-Bernal JH, Martín BP, Ramírez Carrasco M, Muñoz Casado MJ, Martínez de Aragón A, de las Heras RS. González Quarante LH, et al. Among authors: de las heras rs. Childs Nerv Syst. 2016 May;32(5):857-63. doi: 10.1007/s00381-015-2954-5. Epub 2015 Nov 19. Childs Nerv Syst. 2016. PMID: 26584552 Review.
Whole-exome sequencing identifies a variant of the mitochondrial MT-ND1 gene associated with epileptic encephalopathy: west syndrome evolving to Lennox-Gastaut syndrome.
Delmiro A, Rivera H, García-Silva MT, García-Consuegra I, Martín-Hernández E, Quijada-Fraile P, de Las Heras RS, Moreno-Izquierdo A, Martín MÁ, Arenas J, Martínez-Azorín F. Delmiro A, et al. Among authors: de las heras rs. Hum Mutat. 2013 Dec;34(12):1623-7. doi: 10.1002/humu.22445. Epub 2013 Oct 10. Hum Mutat. 2013. PMID: 24105702
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