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Pathogenic variants of DNAJC12 and evaluation of the encoded cochaperone as a genetic modifier of hyperphenylalaninemia.
Gallego D, Leal F, Gámez A, Castro M, Navarrete R, Sanchez-Lijarcio O, Vitoria I, Bueno-Delgado M, Belanger-Quintana A, Morais A, Pedrón-Giner C, García I, Campistol J, Artuch R, Alcaide C, Cornejo V, Gil D, Yahyaoui R, Desviat LR, Ugarte M, Martínez A, Pérez B. Gallego D, et al. Among authors: castro m. Hum Mutat. 2020 Jul;41(7):1329-1338. doi: 10.1002/humu.24026. Epub 2020 Apr 30. Hum Mutat. 2020. PMID: 32333439 Free article.
Maternal polymorphisms 677C-T and 1298A-C of MTHFR, and 66A-G MTRR genes: is there any relationship between polymorphisms of the folate pathway, maternal homocysteine levels, and the risk for having a child with Down syndrome?
Martínez-Frías ML, Pérez B, Desviat LR, Castro M, Leal F, Rodríguez L, Mansilla E, Martínez-Fernández ML, Bermejo E, Rodríguez-Pinilla E, Prieto D, Ugarte M; ECEMC Working Group. Martínez-Frías ML, et al. Among authors: castro m. Am J Med Genet A. 2006 May 1;140(9):987-97. doi: 10.1002/ajmg.a.31203. Am J Med Genet A. 2006. PMID: 16575899
[Analysis of the frequencies of genotype combinations of 4 polymorphisms of genes acting on the folate cycle in the Spanish population].
Martínez-Frías ML, Bermejo E, Pérez B, Desviat LR, Castro M, Leal F, Mansilla E, Martínez-Fernández ML, Rodríguez-Pinilla E, Rodríguez L, Ugarte M; Grupo de Trabajo del Estudio Colaborativo Español de Malformaciones Congénitas (ECEMC). Martínez-Frías ML, et al. Among authors: castro m. Med Clin (Barc). 2008 Jun 21;131(3):81-8. doi: 10.1157/13124010. Med Clin (Barc). 2008. PMID: 18590621 Spanish.
Genotype-phenotype correlations in sepiapterin reductase deficiency. A splicing defect accounts for a new phenotypic variant.
Arrabal L, Teresa L, Sánchez-Alcudia R, Castro M, Medrano C, Gutiérrez-Solana L, Roldán S, Ormazábal A, Pérez-Cerdá C, Merinero B, Pérez B, Artuch R, Ugarte M, Desviat LR. Arrabal L, et al. Among authors: castro m. Neurogenetics. 2011 Aug;12(3):183-91. doi: 10.1007/s10048-011-0279-4. Epub 2011 Mar 24. Neurogenetics. 2011. PMID: 21431957
Clinical, biochemical, and molecular studies in pyridoxine-dependent epilepsy. Antisense therapy as possible new therapeutic option.
Pérez B, Gutiérrez-Solana LG, Verdú A, Merinero B, Yuste-Checa P, Ruiz-Sala P, Calvo R, Jalan A, Marín LL, Campos O, Ruiz MÁ, San Miguel M, Vázquez M, Castro M, Ferrer I, Navarrete R, Desviat LR, Lapunzina P, Ugarte M, Pérez-Cerdá C. Pérez B, et al. Among authors: castro m. Epilepsia. 2013 Feb;54(2):239-48. doi: 10.1111/epi.12083. Epub 2013 Jan 25. Epilepsia. 2013. PMID: 23350806 Free article.
CPEB alteration and aberrant transcriptome-polyadenylation lead to a treatable SLC19A3 deficiency in Huntington's disease.
Picó S, Parras A, Santos-Galindo M, Pose-Utrilla J, Castro M, Fraga E, Hernández IH, Elorza A, Anta H, Wang N, Martí-Sánchez L, Belloc E, Garcia-Esparcia P, Garrido JJ, Ferrer I, Macías-García D, Mir P, Artuch R, Pérez B, Hernández F, Navarro P, López-Sendón JL, Iglesias T, Yang XW, Méndez R, Lucas JJ. Picó S, et al. Among authors: castro m. Sci Transl Med. 2021 Sep 29;13(613):eabe7104. doi: 10.1126/scitranslmed.abe7104. Epub 2021 Sep 29. Sci Transl Med. 2021. PMID: 34586830 Free article.
5,139 results