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Cognitive stimulation has potential for brain activation in individuals with Rett syndrome.
Migliorelli C, Medina-Rivera I, Bachiller A, Tost A, Alonso JF, López-Sala A, Armstrong J, O'Callahan MDM, Pineda M, Mañanas MA, Romero S, García-Cazorla Á. Migliorelli C, et al. Among authors: pineda m. J Intellect Disabil Res. 2022 Mar;66(3):213-224. doi: 10.1111/jir.12902. Epub 2021 Nov 18. J Intellect Disabil Res. 2022. PMID: 34796573
Prenatal diagnosis in Rett syndrome.
Armstrong J, Aibar E, Pineda M, Pérez MM, Geán E, Carrera M, Casas C, Martínez F, Monrós E. Armstrong J, et al. Among authors: pineda m. Fetal Diagn Ther. 2002 Jul-Aug;17(4):200-4. doi: 10.1159/000059370. Fetal Diagn Ther. 2002. PMID: 12065946
Hypokinetic-rigid syndrome in children and inborn errors of metabolism.
García-Cazorla A, Ortez C, Pérez-Dueñas B, Serrano M, Pineda M, Campistol J, Fernández-Álvarez E. García-Cazorla A, et al. Among authors: pineda m. Eur J Paediatr Neurol. 2011 Jul;15(4):295-302. doi: 10.1016/j.ejpn.2011.04.013. Epub 2011 May 25. Eur J Paediatr Neurol. 2011. PMID: 21612960 Review.
Novel FOXG1 mutations associated with the congenital variant of Rett syndrome.
Mencarelli MA, Spanhol-Rosseto A, Artuso R, Rondinella D, De Filippis R, Bahi-Buisson N, Nectoux J, Rubinsztajn R, Bienvenu T, Moncla A, Chabrol B, Villard L, Krumina Z, Armstrong J, Roche A, Pineda M, Gak E, Mari F, Ariani F, Renieri A. Mencarelli MA, et al. Among authors: pineda m. J Med Genet. 2010 Jan;47(1):49-53. doi: 10.1136/jmg.2009.067884. Epub 2009 Jul 2. J Med Genet. 2010. PMID: 19578037
Mutations in JMJD1C are involved in Rett syndrome and intellectual disability.
Sáez MA, Fernández-Rodríguez J, Moutinho C, Sanchez-Mut JV, Gomez A, Vidal E, Petazzi P, Szczesna K, Lopez-Serra P, Lucariello M, Lorden P, Delgado-Morales R, de la Caridad OJ, Huertas D, Gelpí JL, Orozco M, López-Doriga A, Milà M, Perez-Jurado LA, Pineda M, Armstrong J, Lázaro C, Esteller M. Sáez MA, et al. Among authors: pineda m. Genet Med. 2016 Apr;18(4):378-85. doi: 10.1038/gim.2015.100. Epub 2015 Jul 16. Genet Med. 2016. PMID: 26181491 Free PMC article.
Secondary abnormalities of neurotransmitters in infants with neurological disorders.
García-Cazorla A, Serrano M, Pérez-Dueñas B, González V, Ormazábal A, Pineda M, Fernández-Alvarez E, Campistol JM, Artuch RM. García-Cazorla A, et al. Among authors: pineda m. Dev Med Child Neurol. 2007 Oct;49(10):740-4. doi: 10.1111/j.1469-8749.2007.00740.x. Dev Med Child Neurol. 2007. PMID: 17880642 Free article.
742 results