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Cholesterol redistribution triggered by CYP46A1 gene therapy improves major hallmarks of Niemann-Pick type C disease but is not sufficient to halt neurodegeneration.
Biochim Biophys Acta Mol Basis Dis. 2024 Mar;1870(3):166993. doi: 10.1016/j.bbadis.2023.166993. Epub 2023 Dec 22.
Biochim Biophys Acta Mol Basis Dis. 2024.
PMID: 38142760
Free article.
Whole gene sequencing identifies deep-intronic variants with potential functional impact in patients with hypertrophic cardiomyopathy.
Mendes de Almeida R, Tavares J, Martins S, Carvalho T, Enguita FJ, Brito D, Carmo-Fonseca M, Lopes LR.
Mendes de Almeida R, et al.
PLoS One. 2017 Aug 10;12(8):e0182946. doi: 10.1371/journal.pone.0182946. eCollection 2017.
PLoS One. 2017.
PMID: 28797094
Free PMC article.
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