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DYNC1H1 variants associated with infant-onset epilepsy without neurodevelopmental disorders.
Wu WC, Liang XY, Zhang DM, Jin L, Liu ZG, Zeng XL, Zhai QX, Liao WP, He N, Meng XH. Wu WC, et al. Seizure. 2024 Mar;116:119-125. doi: 10.1016/j.seizure.2023.10.010. Epub 2023 Oct 27. Seizure. 2024. PMID: 37903666 Free article.
These variants have no or low frequencies in the Genome Aggregation Database. All the missense variants were predicted to be damaging using silico tools. Previously reported epilepsy-related variants were monoallelic variants, mainly de novo missense variants, and all the …
These variants have no or low frequencies in the Genome Aggregation Database. All the missense variants were predicted to be damaging …
Gaussian process uncertainty in age estimation as a measure of brain abnormality.
Gutierrez Becker B, Klein T, Wachinger C; Alzheimer’s Disease Neuroimaging Initiative and the Australian Imaging Biomarkers and Lifestyle flagship study of ageing. Gutierrez Becker B, et al. Neuroimage. 2018 Jul 15;175:246-258. doi: 10.1016/j.neuroimage.2018.03.075. Epub 2018 Apr 5. Neuroimage. 2018. PMID: 29627589
Multivariate regression models for age estimation are a powerful tool for assessing abnormal brain morphology associated to neuropathology. Age prediction models are built on cohorts of healthy subjects and are built to reflect normal aging patterns. The application of the …
Multivariate regression models for age estimation are a powerful tool for assessing abnormal brain morphology associated to neuropathology. …