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Systematic Collaborative Reanalysis of Genomic Data Improves Diagnostic Yield in Neurologic Rare Diseases.
Bullich G, Matalonga L, Pujadas M, Papakonstantinou A, Piscia D, Tonda R, Artuch R, Gallano P, Garrabou G, González JR, Grinberg D, Guitart M, Laurie S, Lázaro C, Luengo C, Martí R, Milà M, Ovelleiro D, Parra G, Pujol A, Tizzano E, Macaya A, Palau F, Ribes A, Pérez-Jurado LA, Beltran S; Undiagnosed Rare Disease Program of Catalonia (URD-Cat) Consortium. Bullich G, et al. Among authors: mila m. J Mol Diagn. 2022 May;24(5):529-542. doi: 10.1016/j.jmoldx.2022.02.003. J Mol Diagn. 2022. PMID: 35569879 Free article.
Paternal transmission of a FMR1 full mutation allele.
Alvarez-Mora MI, Guitart M, Rodriguez-Revenga L, Madrigal I, Gabau E, Milà M. Alvarez-Mora MI, et al. Among authors: mila m. Am J Med Genet A. 2017 Oct;173(10):2795-2797. doi: 10.1002/ajmg.a.38384. Epub 2017 Aug 16. Am J Med Genet A. 2017. PMID: 28815939
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. Among authors: mila m. 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.
Impaired Mitochondrial Function and Dynamics in the Pathogenesis of FXTAS.
Alvarez-Mora MI, Rodriguez-Revenga L, Madrigal I, Guitart-Mampel M, Garrabou G, Milà M. Alvarez-Mora MI, et al. Among authors: mila m. Mol Neurobiol. 2017 Nov;54(9):6896-6902. doi: 10.1007/s12035-016-0194-7. Epub 2016 Oct 22. Mol Neurobiol. 2017. PMID: 27771901
46,XY,18q+/46,XY,18q- mosaicism in a fragile X prenatal diagnosis.
Rodriguez-Revenga L, Badenas C, Madrigal I, Sánchez A, Soler A, Carrió A, Milà M. Rodriguez-Revenga L, et al. Among authors: mila m. Prenat Diagn. 2005 Jun;25(6):448-50. doi: 10.1002/pd.1150. Prenat Diagn. 2005. PMID: 15966059
189 results