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Page 1
Dystrophinopathy Phenotypes and Modifying Factors in DMD Exon 45-55 Deletion.
Poyatos-García J, Martí P, Liquori A, Muelas N, Pitarch I, Martinez-Dolz L, Rodríguez B, Gonzalez-Quereda L, Damiá M, Aller E, Selva-Gimenez M, Vilchez R, Diaz-Manera J, Alonso-Pérez J, Barcena JE, Jauregui A, Gámez J, Aladrén JA, Fernández A, Montolio M, Azorin I, Hervas D, Casasús A, Nieto M, Gallano P, Sevilla T, Vilchez JJ. Poyatos-García J, et al. Among authors: aller e. Ann Neurol. 2022 Nov;92(5):793-806. doi: 10.1002/ana.26461. Epub 2022 Sep 7. Ann Neurol. 2022. PMID: 35897138 Free PMC article.
Altered antioxidant-oxidant status in the aqueous humor and peripheral blood of patients with retinitis pigmentosa.
Martínez-Fernández de la Cámara C, Salom D, Sequedo MD, Hervás D, Marín-Lambíes C, Aller E, Jaijo T, Díaz-Llopis M, Millán JM, Rodrigo R. Martínez-Fernández de la Cámara C, et al. Among authors: aller e. PLoS One. 2013 Sep 12;8(9):e74223. doi: 10.1371/journal.pone.0074223. eCollection 2013. PLoS One. 2013. PMID: 24069283 Free PMC article.
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: aller e. PLoS One. 2018 Dec 5;13(12):e0207296. doi: 10.1371/journal.pone.0207296. eCollection 2018. PLoS One. 2018. PMID: 30517146 Free PMC article.
Clinical and genetic characteristics of 21 Spanish patients with biallelic pathogenic SPG7 mutations.
Baviera-Muñoz R, Campins-Romeu M, Carretero-Vilarroig L, Sastre-Bataller I, Martínez-Torres I, Vázquez-Costa JF, Muelas N, Sevilla T, Vílchez JJ, Aller E, Jaijo T, Bataller L, Espinós C. Baviera-Muñoz R, et al. Among authors: aller e. J Neurol Sci. 2021 Oct 15;429:118062. doi: 10.1016/j.jns.2021.118062. Epub 2021 Aug 30. J Neurol Sci. 2021. PMID: 34500365
Diagnostic Efficacy of Genetic Studies in a Series of Hereditary Cerebellar Ataxias in Eastern Spain.
Baviera-Muñoz R, Carretero-Vilarroig L, Vázquez-Costa JF, Morata-Martínez C, Campins-Romeu M, Muelas N, Sastre-Bataller I, Martínez-Torres I, Pérez-García J, Sivera R, Sevilla T, Vilchez JJ, Jaijo T, Espinós C, Millán JM, Bataller L, Aller E. Baviera-Muñoz R, et al. Among authors: aller e. Neurol Genet. 2022 Nov 14;8(6):e200038. doi: 10.1212/NXG.0000000000200038. eCollection 2022 Dec. Neurol Genet. 2022. PMID: 36530930 Free PMC article.
Spinocerebellar Ataxia 36 is a Frequent Cause of Hereditary Ataxia in Eastern Spain.
Baviera-Muñoz R, Carretero-Vilarroig L, Muelas N, Sivera R, Sopena-Novales P, Martínez-Sanchis B, Sastre-Bataller I, Campins-Romeu M, Martínez-Torres I, García-Verdugo JM, Millán JM, Jaijo T, Aller E, Bataller L. Baviera-Muñoz R, et al. Among authors: aller e. Mov Disord Clin Pract. 2023 May 5;10(6):992-997. doi: 10.1002/mdc3.13740. eCollection 2023 Jun. Mov Disord Clin Pract. 2023. PMID: 37332636 Free PMC article.
Deep Molecular Characterization of Milder Spinal Muscular Atrophy Patients Carrying the c.859G>C Variant in SMN2.
Blasco-Pérez L, Costa-Roger M, Leno-Colorado J, Bernal S, Alias L, Codina-Solà M, Martínez-Cruz D, Castiglioni C, Bertini E, Travaglini L, Millán JM, Aller E, Sotoca J, Juntas R, Hoei-Hansen CE, Moreno-Escribano A, Guillén-Navarro E, Costa-Comellas L, Munell F, Boronat S, Rojas-García R, Povedano M, Cuscó I, Tizzano EF. Blasco-Pérez L, et al. Among authors: aller e. Int J Mol Sci. 2022 Jul 27;23(15):8289. doi: 10.3390/ijms23158289. Int J Mol Sci. 2022. PMID: 35955418 Free PMC article.
75 results