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Page 1
Clinical guidelines for late-onset Pompe disease.
Barba-Romero MA, Barrot E, Bautista-Lorite J, Gutierrez-Rivas E, Illa I, Jimenez LM, Ley-Martos M, Lopez de Munain A, Pardo J, Pascual-Pascual SI, Perez-Lopez J, Solera J, Vilchez-Padilla JJ. Barba-Romero MA, et al. Among authors: lopez de munain a. Rev Neurol. 2012 Apr 16;54(8):497-507. Rev Neurol. 2012. PMID: 22492103 Free article. Review. English, Spanish.
Targeted screening for the detection of Pompe disease in patients with unclassified limb-girdle muscular dystrophy or asymptomatic hyperCKemia using dried blood: A Spanish cohort.
Gutiérrez-Rivas E, Bautista J, Vílchez JJ, Muelas N, Díaz-Manera J, Illa I, Martínez-Arroyo A, Olivé M, Sanz I, Arpa J, Fernández-Torrón R, López de Munáin A, Jiménez L, Solera J, Lukacs Z. Gutiérrez-Rivas E, et al. Among authors: lopez de munain a. Neuromuscul Disord. 2015 Jul;25(7):548-53. doi: 10.1016/j.nmd.2015.04.008. Epub 2015 Apr 23. Neuromuscul Disord. 2015. PMID: 25998610
Dried Blood Spot for Screening for Late-Onset Pompe Disease: A Spanish Cohort.
Gutiérrez-Rivas E, Bautista J, Vílchez JJ, Muelas N, Díaz-Manera J, Illa I, Martínez-Arroyo A, Olivé M, Sanz I, Arpa J, Fernández-Torrón R, López de Munáin A, Jiménez L, Solera J, Lukacs Z. Gutiérrez-Rivas E, et al. Among authors: lopez de munain a. J Neuromuscul Dis. 2015;2(s1):S42. J Neuromuscul Dis. 2015. PMID: 27858636 No abstract available.
SPG7 mutational screening in spastic paraplegia patients supports a dominant effect for some mutations and a pathogenic role for p.A510V.
Sánchez-Ferrero E, Coto E, Beetz C, Gámez J, Corao AI, Díaz M, Esteban J, del Castillo E, Moris G, Infante J, Menéndez M, Pascual-Pascual SI, López de Munaín A, Garcia-Barcina MJ, Alvarez V; Genetics of Spastic Paraplegia study group. Sánchez-Ferrero E, et al. Among authors: lopez de munain a. Clin Genet. 2013 Mar;83(3):257-62. doi: 10.1111/j.1399-0004.2012.01896.x. Epub 2012 May 21. Clin Genet. 2013. PMID: 22571692
LGMD2A: genotype-phenotype correlations based on a large mutational survey on the calpain 3 gene.
Sáenz A, Leturcq F, Cobo AM, Poza JJ, Ferrer X, Otaegui D, Camaño P, Urtasun M, Vílchez J, Gutiérrez-Rivas E, Emparanza J, Merlini L, Paisán C, Goicoechea M, Blázquez L, Eymard B, Lochmuller H, Walter M, Bonnemann C, Figarella-Branger D, Kaplan JC, Urtizberea JA, Martí-Massó JF, López de Munain A. Sáenz A, et al. Among authors: lopez de munain a. Brain. 2005 Apr;128(Pt 4):732-42. doi: 10.1093/brain/awh408. Epub 2005 Feb 2. Brain. 2005. PMID: 15689361
Pompe Disease and Autophagy: Partners in Crime, or Cause and Consequence?
Rodríguez-Arribas M, Pedro JM, Gómez-Sánchez R, Yakhine-Diop SM, Martínez-Chacón G, Uribe-Carretero E, De Castro DC, Casado-Naranjo I, López de Munaín A, Niso-Santano M, Fuentes JM, González-Polo RA. Rodríguez-Arribas M, et al. Among authors: lopez de munain a, de castro dc. Curr Med Chem. 2016;23(21):2275-85. doi: 10.2174/1567201812666150122131046. Curr Med Chem. 2016. PMID: 27237817 Review.
[Alterations in functional proteins. Calpaine-3 deficiency].
López de Munain A, Urtasun A, Poza JJ, Ruiz J, Sáenz A, Cobo AM, Lasa A, Gallano P, Baiget M, Martí-Massó JF. López de Munain A, et al. Rev Neurol. 1999 Jan 16-31;28(2):158-64. Rev Neurol. 1999. PMID: 10101785 Review. Spanish.
[Mitochondrial encephalomyelitis, lactic acidosis and cerebrovascular accidents (MELAS) in pediatric age with the A3243G mutation in the tRNALeu(UUR) gene of mitochondrial DNA].
Coelho-Miranda L, Playan A, Artuch R, Vilaseca MA, Colomer J, Briones P, Coll-Cantí J, Conill J, Sans A, López de Munain A, Solano A, Alcaine MJ, Montoya J, Pineda M. Coelho-Miranda L, et al. Among authors: lopez de munain a. Rev Neurol. 2000 Nov 1-15;31(9):804-11. Rev Neurol. 2000. PMID: 11127079 Spanish.
357 results