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Infection-triggered familial or recurrent cases of acute necrotizing encephalopathy caused by mutations in a component of the nuclear pore, RANBP2.
Neilson DE, Adams MD, Orr CM, Schelling DK, Eiben RM, Kerr DS, Anderson J, Bassuk AG, Bye AM, Childs AM, Clarke A, Crow YJ, Di Rocco M, Dohna-Schwake C, Dueckers G, Fasano AE, Gika AD, Gionnis D, Gorman MP, Grattan-Smith PJ, Hackenberg A, Kuster A, Lentschig MG, Lopez-Laso E, Marco EJ, Mastroyianni S, Perrier J, Schmitt-Mechelke T, Servidei S, Skardoutsou A, Uldall P, van der Knaap MS, Goglin KC, Tefft DL, Aubin C, de Jager P, Hafler D, Warman ML. Neilson DE, et al. Am J Hum Genet. 2009 Jan;84(1):44-51. doi: 10.1016/j.ajhg.2008.12.009. Am J Hum Genet. 2009. PMID: 19118815 Free PMC article.
A Restricted Repertoire of De Novo Mutations in ITPR1 Cause Gillespie Syndrome with Evidence for Dominant-Negative Effect.
McEntagart M, Williamson KA, Rainger JK, Wheeler A, Seawright A, De Baere E, Verdin H, Bergendahl LT, Quigley A, Rainger J, Dixit A, Sarkar A, López Laso E, Sanchez-Carpintero R, Barrio J, Bitoun P, Prescott T, Riise R, McKee S, Cook J, McKie L, Ceulemans B, Meire F, Temple IK, Prieur F, Williams J, Clouston P, Németh AH, Banka S, Bengani H, Handley M, Freyer E, Ross A; DDD Study; van Heyningen V, Marsh JA, Elmslie F, FitzPatrick DR. McEntagart M, et al. Am J Hum Genet. 2016 May 5;98(5):981-992. doi: 10.1016/j.ajhg.2016.03.018. Epub 2016 Apr 21. Am J Hum Genet. 2016. PMID: 27108798 Free PMC article.
[Infant botulism].
López Laso E, Pérez Navero JL, Rumbao Aguirre J, Mateos González ME, Méndez García M, Cárdenas Aranzana MJ, Ibarra de la Rosa I. López Laso E, et al. An Pediatr (Barc). 2008 May;68(5):499-502. doi: 10.1157/13120050. An Pediatr (Barc). 2008. PMID: 18447997 Free article. Spanish.
[Neurological complications in patients receiving solid organ transplants].
Fernández-Ramos JA, López-Laso E, Ordóñez-Díaz MD, Camino-León R, Ibarra-de la Rosa I, Frías-Pérez MA, Gilbert-Pérez JJ, Pérez-Navero JL. Fernández-Ramos JA, et al. An Pediatr (Barc). 2013 Mar;78(3):149-56. doi: 10.1016/j.anpedi.2012.08.001. Epub 2012 Sep 10. An Pediatr (Barc). 2013. PMID: 22974597 Free article. Spanish.
[Möbius syndrome and an apparently life-threatening event].
López-Laso E, Pérez Navero JL, Marín Rodríguez C, Camino León R, Ibarra de la Rosa I, Velasco Jabalquinto MJ. López-Laso E, et al. An Pediatr (Barc). 2005 Apr;62(4):373-7. doi: 10.1157/13073252. An Pediatr (Barc). 2005. PMID: 15826568 Free article. Spanish.
[Acute myelopathy: importance of early diagnosis].
Priego Ruiz MP, López Laso E, Muñoz Sánchez R, Pérez Navero JL. Priego Ruiz MP, et al. An Pediatr (Barc). 2016 Jun;84(6):348-9. doi: 10.1016/j.anpedi.2015.06.013. Epub 2015 Aug 11. An Pediatr (Barc). 2016. PMID: 26271409 Free article. Spanish. No abstract available.
[Reticulocyte haemoglobin content in the diagnosis of iron deficiency].
Mateos González ME, de la Cruz Bértolo J, López Laso E, Valdés Sánchez MD, Nogales Espert A. Mateos González ME, et al. An Pediatr (Barc). 2009 Aug;71(2):103-9. doi: 10.1016/j.anpedi.2009.04.006. Epub 2009 Jun 10. An Pediatr (Barc). 2009. PMID: 19520626 Free article. Spanish.
87 results