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Apparent Radiological Improvement in an Infant With Labrune Syndrome Treated With Bevacizumab.
Martínez-Matilla M, Ferre-Fernández JJ, Aparisi MJ, Marco-Hernández AV, Cerón JA, Crow YJ, Martínez-Castellano F, Tomás-Vila M, Pedrola L. Martínez-Matilla M, et al. Among authors: aparisi mj. Pediatr Neurol. 2020 Nov;112:53-55. doi: 10.1016/j.pediatrneurol.2020.07.011. Epub 2020 Jul 25. Pediatr Neurol. 2020. PMID: 32911264 No abstract available.
New mutations found by Next-Generation Sequencing screening of Spanish patients with Nemaline Myopathy.
Moreau-Le Lan S, Aller E, Calabria I, Gonzalez-Tarancon L, Cardona-Gay C, Martinez-Matilla M, Aparisi MJ, Selles J, Sagath L, Pitarch I, Muelas N, Cervera JV, Millan JM, Pedrola L. Moreau-Le Lan S, et al. Among authors: aparisi mj. PLoS One. 2018 Dec 5;13(12):e0207296. doi: 10.1371/journal.pone.0207296. eCollection 2018. PLoS One. 2018. PMID: 30517146 Free PMC article.
Microarray-based mutation analysis of 183 Spanish families with Usher syndrome.
Jaijo T, Aller E, García-García G, Aparisi MJ, Bernal S, Avila-Fernández A, Barragán I, Baiget M, Ayuso C, Antiñolo G, Díaz-Llopis M, Külm M, Beneyto M, Nájera C, Millán JM. Jaijo T, et al. Among authors: aparisi mj. Invest Ophthalmol Vis Sci. 2010 Mar;51(3):1311-7. doi: 10.1167/iovs.09-4085. Epub 2009 Aug 13. Invest Ophthalmol Vis Sci. 2010. PMID: 19683999
Functional analysis of splicing mutations in MYO7A and USH2A genes.
Jaijo T, Aller E, Aparisi MJ, García-García G, Hernan I, Gamundi MJ, Nájera C, Carballo M, Millán JM. Jaijo T, et al. Among authors: aparisi mj. Clin Genet. 2011 Mar;79(3):282-8. doi: 10.1111/j.1399-0004.2010.01454.x. Clin Genet. 2011. PMID: 20497194
Novel mutations in the USH1C gene in Usher syndrome patients.
Aparisi MJ, García-García G, Jaijo T, Rodrigo R, Graziano C, Seri M, Simsek T, Simsek E, Bernal S, Baiget M, Pérez-Garrigues H, Aller E, Millán JM. Aparisi MJ, et al. Mol Vis. 2010 Dec 31;16:2948-54. Mol Vis. 2010. PMID: 21203349 Free PMC article.
15 results