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Practical guidelines to manage discordant situations of SMN2 copy number in patients with spinal muscular atrophy.
Neurol Genet. 2020 Nov 18;6(6):e530. doi: 10.1212/NXG.0000000000000530. eCollection 2020 Dec.
Neurol Genet. 2020.
PMID: 33324756
Free PMC article.
Correlation between SMA type and SMN2 copy number revisited: An analysis of 625 unrelated Spanish patients and a compilation of 2834 reported cases.
Calucho M, Bernal S, Alías L, March F, Venceslá A, Rodríguez-Álvarez FJ, Aller E, Fernández RM, Borrego S, Millán JM, Hernández-Chico C, Cuscó I, Fuentes-Prior P, Tizzano EF.
Calucho M, et al.
Neuromuscul Disord. 2018 Mar;28(3):208-215. doi: 10.1016/j.nmd.2018.01.003. Epub 2018 Jan 11.
Neuromuscul Disord. 2018.
PMID: 29433793
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Utility of two SMN1 variants to improve spinal muscular atrophy carrier diagnosis and genetic counselling.
Alías L, Bernal S, Calucho M, Martínez E, March F, Gallano P, Fuentes-Prior P, Abuli A, Serra-Juhe C, Tizzano EF.
Alías L, et al. Among authors: calucho m.
Eur J Hum Genet. 2018 Oct;26(10):1554-1557. doi: 10.1038/s41431-018-0193-4. Epub 2018 Jun 14.
Eur J Hum Genet. 2018.
PMID: 29904179
Free PMC article.
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Validation of nasospheroids to assay CFTR functionality and modulator responses in cystic fibrosis.
Calucho M, Gartner S, Barranco P, Fernández-Álvarez P, Pérez RG, Tizzano EF.
Calucho M, et al.
Sci Rep. 2021 Jul 30;11(1):15511. doi: 10.1038/s41598-021-94798-x.
Sci Rep. 2021.
PMID: 34330959
Free PMC article.
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The effect of premature termination codon mutations on CFTR mRNA abundance in human nasal epithelium and intestinal organoids: a basis for read-through therapies in cystic fibrosis.
Clarke LA, Awatade NT, Felício VM, Silva IA, Calucho M, Pereira L, Azevedo P, Cavaco J, Barreto C, Bertuzzo C, Gartner S, Beekman J, Amaral MD.
Clarke LA, et al. Among authors: calucho m.
Hum Mutat. 2019 Mar;40(3):326-334. doi: 10.1002/humu.23692. Epub 2018 Dec 10.
Hum Mutat. 2019.
PMID: 30488522
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Expression of Bone Morphogenetic Proteins in Multiple Sclerosis Lesions.
Costa C, Eixarch H, Martínez-Sáez E, Calvo-Barreiro L, Calucho M, Castro Z, Ortega-Aznar A, Ramón Y Cajal S, Montalban X, Espejo C.
Costa C, et al. Among authors: calucho m.
Am J Pathol. 2019 Mar;189(3):665-676. doi: 10.1016/j.ajpath.2018.11.007. Epub 2018 Dec 13.
Am J Pathol. 2019.
PMID: 30553833
Free article.
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