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Page 1
Characterization of human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1.
Crow YJ, Chase DS, Lowenstein Schmidt J, Szynkiewicz M, Forte GM, Gornall HL, Oojageer A, Anderson B, Pizzino A, Helman G, Abdel-Hamid MS, Abdel-Salam GM, Ackroyd S, Aeby A, Agosta G, Albin C, Allon-Shalev S, Arellano M, Ariaudo G, Aswani V, Babul-Hirji R, Baildam EM, Bahi-Buisson N, Bailey KM, Barnerias C, Barth M, Battini R, Beresford MW, Bernard G, Bianchi M, Billette de Villemeur T, Blair EM, Bloom M, Burlina AB, Carpanelli ML, Carvalho DR, Castro-Gago M, Cavallini A, Cereda C, Chandler KE, Chitayat DA, Collins AE, Sierra Corcoles C, Cordeiro NJ, Crichiutti G, Dabydeen L, Dale RC, D'Arrigo S, De Goede CG, De Laet C, De Waele LM, Denzler I, Desguerre I, Devriendt K, Di Rocco M, Fahey MC, Fazzi E, Ferrie CD, Figueiredo A, Gener B, Goizet C, Gowrinathan NR, Gowrishankar K, Hanrahan D, Isidor B, Kara B, Khan N, King MD, Kirk EP, Kumar R, Lagae L, Landrieu P, Lauffer H, Laugel V, La Piana R, Lim MJ, Lin JP, Linnankivi T, Mackay MT, Marom DR, Marques Lourenço C, McKee SA, Moroni I, Morton JE, Moutard ML, Murray K, Nabbout R, Nampoothiri S, Nunez-Enamorado N, Oades PJ, Olivieri I, Ostergaard JR, Pérez-Dueñas B, Prendiville JS, Ramesh V, Rasmussen M, Régal L, Ricci F, Rio M, Rodriguez… See abstract for full author list ➔ Crow YJ, et al. Am J Med Genet A. 2015 Feb;167A(2):296-312. doi: 10.1002/ajmg.a.36887. Epub 2015 Jan 16. Am J Med Genet A. 2015. PMID: 25604658 Free PMC article.
The gain of function SCN1A disorder spectrum: novel epilepsy phenotypes and therapeutic implications.
Brunklaus A, Brünger T, Feng T, Fons C, Lehikoinen A, Panagiotakaki E, Vintan MA, Symonds J, Andrew J, Arzimanoglou A, Delima S, Gallois J, Hanrahan D, Lesca G, MacLeod S, Marjanovic D, McTague A, Nuñez-Enamorado N, Perez-Palma E, Scott Perry M, Pysden K, Russ-Hall SJ, Scheffer IE, Sully K, Syrbe S, Vaher U, Velayutham M, Vogt J, Weiss S, Wirrell E, Zuberi SM, Lal D, Møller RS, Mantegazza M, Cestèle S. Brunklaus A, et al. Among authors: nunez enamorado n. Brain. 2022 Nov 21;145(11):3816-3831. doi: 10.1093/brain/awac210. Brain. 2022. PMID: 35696452 Free PMC article.
Hydrocephalus in pyridoxine-dependent epilepsy: New case and literature review.
Navarro-Abia V, Soriano-Ramos M, Núñez-Enamorado N, Camacho-Salas A, Martinez-de Aragón A, Martín-Hernández E, Simón-de Las Heras R. Navarro-Abia V, et al. Among authors: nunez enamorado n. Brain Dev. 2018 Apr;40(4):348-352. doi: 10.1016/j.braindev.2017.12.005. Epub 2017 Dec 30. Brain Dev. 2018. PMID: 29295802 Review.
A Preterm Newborn With the "Barrel Syndrome".
Muñoz Amat B, Vázquez Román S, Gallego Herrero C, Núñez-Enamorado N, Toldos González Ó, Pallás Alonso CR. Muñoz Amat B, et al. Among authors: nunez enamorado n. Pediatr Neurol. 2017 Jun;71:8-13. doi: 10.1016/j.pediatrneurol.2017.01.030. Epub 2017 Feb 8. Pediatr Neurol. 2017. PMID: 28390778 No abstract available.
[Stroke in paediatric patients with sickle-cell anaemia].
Díaz-Díaz J, Camacho-Salas A, Núñez-Enamorado N, Carro-Rodríguez MA, Sánchez-Galán V, Martínez de Aragón A, Simón-De Las Heras R. Díaz-Díaz J, et al. Rev Neurol. 2014 Aug 16;59(4):153-7. Rev Neurol. 2014. PMID: 25059265 Free article. Spanish.
[Acute torticollis on awakening in an infant].
Soriano-Ramos M, Núñez Enamorado N, Navarro-Abia V, Simón de Las Heras R. Soriano-Ramos M, et al. Among authors: nunez enamorado n. An Pediatr (Engl Ed). 2018 Mar;88(3):174-175. doi: 10.1016/j.anpedi.2017.06.007. Epub 2017 Jul 27. An Pediatr (Engl Ed). 2018. PMID: 28757191 Free article. Spanish. No abstract available.
24 results