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The genetic architecture of language functional connectivity
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In: ISSN: 1053-8119 ; EISSN: 1095-9572 ; NeuroImage ; https://hal.sorbonne-universite.fr/hal-03566120 ; NeuroImage, Elsevier, 2022, 249, pp.118795. ⟨10.1016/j.neuroimage.2021.118795⟩ (2022)
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The genetic architecture of the human language connectome ; L'architecture génétique du connectome du langage dans le cerveau humain
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In: https://tel.archives-ouvertes.fr/tel-03649334 ; Neuroscience. Université Paris-Saclay, 2022. English. ⟨NNT : 2022UPAST019⟩ (2022)
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Development of a standard of care for patients with valosin-containing protein associated multisystem proteinopathy.
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In: Orphanet journal of rare diseases, vol 17, iss 1 (2022)
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Family history of FXTAS is associated with age-related cognitive-linguistic decline among mothers with the FMR1 premutation.
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In: Journal of neurodevelopmental disorders, vol 14, iss 1 (2022)
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Abstract:
BackgroundWomen who carry a premutation allele of the FMR1 gene are at increased vulnerability to an array of age-related symptoms and disorders, including age-related decline in select cognitive skills. However, the risk factors for age-related decline are poorly understood, including the potential role of family history and genetic factors. In other forms of pathological aging, early decline in syntactic complexity is observed and predicts the later onset of neurodegenerative disease. To shed light on the earliest signs of degeneration, the present study characterized longitudinal changes in the syntactic complexity of women with the FMR1 premutation across midlife, and associations with family history of fragile X-associated tremor/ataxia syndrome (FXTAS) and CGG repeat length.MethodsForty-five women with the FMR1 premutation aged 35-64years at study entry participated in 1-5 longitudinal assessments spaced approximately a year apart (130 observations total). All participants were mothers of children with confirmed fragile X syndrome. Language samples were analyzed for syntactic complexity and participants provided information on family history of FXTAS. CGG repeat length was determined via molecular genetic testing.ResultsHierarchical linear models indicated that women who reported a family history of FXTAS exhibited faster age-related decline in syntactic complexity than those without a family history, with that difference emerging as the women reached their mid-50s. CGG repeat length was not a significant predictor of age-related change.ConclusionsResults suggest that women with the FMR1 premutation who have a family history of FXTAS may be at increased risk for neurodegenerative disease, as indicated by age-related loss of syntactic complexity. Thus, family history of FXTAS may represent a personalized risk factor for age-related disease. Follow-up study is needed to determine whether syntactic decline is an early indicator of FXTAS specifically, as opposed to being a more general age-related cognitive decline associated with the FMR1 premutation.
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Keyword:
2.1 Biological and endogenous factors; Acquired Cognitive Impairment; Adult; Aging; Alleles; Alzheimer's Disease; Alzheimer's Disease including Alzheimer's Disease Related Dementias (AD/ADRD); Ataxia; Behavioral and Social Science; Brain Disorders; Child; Clinical Research; Cognitive Dysfunction; Dementia; Female; Fragile X Mental Retardation Protein; Fragile X premutation; Fragile X Syndrome; Genetics; Grammatical complexity; Humans; Intellectual and Developmental Disabilities (IDD); Language Disorders; Language production; Middle Aged; Mothers; Neurodegenerative; Neurodegenerative Diseases; Neurological; Neurosciences; Pediatric; Psychology; Rare Diseases; Tremor
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URL: https://escholarship.org/uc/item/2m78r62b
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An Interactive Teaching Tool Describing Resistance Evolution and Basic Economics of Insecticide-Based Pest Management.
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In: Insects, vol 13, iss 2 (2022)
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Analysis of ancestry heterozygosity suggests that hybrid incompatibilities in threespine stickleback are environment dependent.
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In: PLoS biology, vol 20, iss 1 (2022)
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First steps towards the detection of contact layers in Bangime: a multi-disciplinary, computer-assisted approach
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In: ISSN: 2732-5121 ; Open Research Europe ; https://hal.archives-ouvertes.fr/hal-03637688 ; Open Research Europe, F1000 Research Limited on behalf of the European Commission, 2022, 2, pp.10. ⟨10.12688/openreseurope.14339.1⟩ (2022)
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Genetic continuity of Indo-Iranian speakers since the Iron Age in southern Central Asia
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In: ISSN: 2045-2322 ; EISSN: 2045-2322 ; Scientific Reports ; https://hal.archives-ouvertes.fr/hal-03566556 ; Scientific Reports, Nature Publishing Group, 2022, 12, pp.733. ⟨10.1038/s41598-021-04144-4⟩ (2022)
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Molecular brain (micro report) oxytocin ameliorates impaired social behavior in a mouse model of 3q29 deletion syndrome ...
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Molecular brain (micro report) oxytocin ameliorates impaired social behavior in a mouse model of 3q29 deletion syndrome ...
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Additional file 1 of Morphological and microsatellite DNA diversity of Djallonké sheep in Guinea-Bissau ...
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Additional file 1 of Morphological and microsatellite DNA diversity of Djallonké sheep in Guinea-Bissau ...
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A new genus of land planarian (Platyhelminthes, Geoplanidae) for a new ‘blind’ species ...
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Morphological and microsatellite DNA diversity of Djallonké sheep in Guinea-Bissau ...
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A new genus of land planarian (Platyhelminthes, Geoplanidae) for a new ‘blind’ species ...
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Morphological and microsatellite DNA diversity of Djallonké sheep in Guinea-Bissau ...
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When one speaker’s broccoli is another speaker’s cauliflower : the real-time processing of multiple speaker vocabularies ...
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When one speaker’s broccoli is another speaker’s cauliflower : the real-time processing of multiple speaker vocabularies ...
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