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Spastic Paraplegia and Cognitive Impairment Due to a De Novo Pathogenic Variant in Presenilin-1.
Muñoz E, Jodar M, Guerrero J, Compta Y, Perissinotti A, Álvarez-Mora MI, Falgàs N, Rodríguez-Revenga L, Sánchez-Valle R. Muñoz E, et al. Among authors: alvarez mora mi. Mov Disord Clin Pract. 2022 Oct 23;10(1):148-150. doi: 10.1002/mdc3.13588. eCollection 2023 Jan. Mov Disord Clin Pract. 2022. PMID: 36699002 Free PMC article. No abstract available.
High apolipoprotein E4 allele frequency in FXTAS patients.
Silva F, Rodriguez-Revenga L, Madrigal I, Alvarez-Mora MI, Oliva R, Milà M. Silva F, et al. Genet Med. 2013 Aug;15(8):639-42. doi: 10.1038/gim.2013.12. Epub 2013 Mar 14. Genet Med. 2013. PMID: 23492875 Free article.
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