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NOTCH1-Related Leukoencephalopathy: A Novel Variant and Literature Review.
Int J Mol Sci. 2024 Mar 1;25(5):2864. doi: 10.3390/ijms25052864.
Int J Mol Sci. 2024.
PMID: 38474113
Free PMC article.
Review.
NOTCH1-related leukoencephalopathy is a new diagnostic entity linked to heterozygous gain-of-function variants in NOTCH1 that neuroradiologically show some overlap with the inflammatory microangiopathy Aicardi-Goutieres syndrome (AGS). To report a 16-year-old boy harbourin …
NOTCH1-related leukoencephalopathy is a new diagnostic entity linked to heterozygous gain-of-function variants in NOTCH1 that neuroradiologi …
Quantification of neurons in the olfactory bulb of the catsharks Scyliorhinus canicula (Linnaeus, 1758) and Galeus melastomus (Rafinesque, 1810).
Aicardi S, Amaroli A, Gallus L, Di Blasi D, Ghigliotti L, Betti F, Vacchi M, Ferrando S.
Aicardi S, et al.
Zoology (Jena). 2020 Aug;141:125796. doi: 10.1016/j.zool.2020.125796. Epub 2020 Apr 26.
Zoology (Jena). 2020.
PMID: 32464514
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