De Novo SOX4 Variants Cause a Neurodevelopmental Disease Associated with Mild Dysmorphism.
Sign Up to like & getrecommendations! Published in 2019 at "American journal of human genetics"
DOI: 10.1016/j.ajhg.2018.12.014
Abstract: SOX4, together with SOX11 and SOX12, forms group C of SRY-related (SOX) transcription factors. They play key roles, often in redundancy, in multiple developmental pathways, including neurogenesis and skeletogenesis. De novo SOX11 heterozygous mutations have… read more here.
Keywords: associated mild; sox4 variants; variants cause; sox4 ... See more keywords
Identifying clinical features and blood biomarkers associated with mild cognitive impairment in Parkinson disease using machine learning
Sign Up to like & getrecommendations! Published in 2023 at "European Journal of Neurology"
DOI: 10.1111/ene.15785
Abstract: A broad list of variables associated with mild cognitive impairment (MCI) in Parkinson disease (PD) have been investigated separately. However, there is as yet no study including all of them to assess variable importance. Shapley… read more here.
Keywords: mild cognitive; associated mild; parkinson disease; blood biomarkers ... See more keywords
Biallelic DAB1 Variants Are Associated With Mild Lissencephaly and Cerebellar Hypoplasia
Sign Up to like & getrecommendations! Published in 2021 at "Neurology: Genetics"
DOI: 10.1212/nxg.0000000000000558
Abstract: Objective We aimed to identify pathogenic variants in a girl with epilepsy, developmental delay, cerebellar ataxia, oral motor difficulty, and structural brain abnormalities with the use of whole-exome sequencing. Methods Whole-exome trio analysis and molecular… read more here.
Keywords: variants associated; exome sequencing; associated mild; dab1 variants ... See more keywords
Olfactory dysfunction is associated with mild cognitive impairment in community-dwelling older adults
Sign Up to like & getrecommendations! Published in 2022 at "Frontiers in Aging Neuroscience"
DOI: 10.3389/fnagi.2022.930686
Abstract: Background Olfactory impairment is aging related and is associated with cognitive decline in older adults. However, it remains unclear if an olfactory impairment is associated with mild cognitive impairment (MCI) and the degree of impairment… read more here.
Keywords: older adults; associated mild; identification; smell ... See more keywords