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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 aragon am. 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 aragon am. 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 aragon am. 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.
Follow-up of folinic acid supplementation for patients with cerebral folate deficiency and Kearns-Sayre syndrome.
Quijada-Fraile P, O'Callaghan M, Martín-Hernández E, Montero R, Garcia-Cazorla À, de Aragón AM, Muchart J, Málaga I, Pardo R, García-Gonzalez P, Jou C, Montoya J, Emperador S, Ruiz-Pesini E, Arenas J, Martin MA, Ormazabal A, Pineda M, García-Silva MT, Artuch R. Quijada-Fraile P, et al. Among authors: de aragon am. Orphanet J Rare Dis. 2014 Dec 24;9:217. doi: 10.1186/s13023-014-0217-2. Orphanet J Rare Dis. 2014. PMID: 25539952 Free PMC article.
LAMA2-related congenital muscular dystrophy complicated by West syndrome.
Camacho A, Núñez N, Dekomien G, Hernández-Laín A, de Aragón AM, Simón R. Camacho A, et al. Among authors: de aragon am. Eur J Paediatr Neurol. 2015 Mar;19(2):243-7. doi: 10.1016/j.ejpn.2014.11.005. Epub 2014 Dec 2. Eur J Paediatr Neurol. 2015. PMID: 25500573
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