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Vocabulary comprehension in adults with fragile X syndrome (FXS)
Springer Science and Business Media LLC - Tập 11 - Trang 1-9 - 2019
Anne Hoffmann, Sue Ellen Krause, Joanne Wuu, Sue Leurgans, Stephen J. Guter, Sandra S. Block, Jeff Salt, Edwin Cook, Dominick M. Maino, Elizabeth Berry-Kravis
Receptive and expressive vocabulary in adult and adolescent males with fragile X syndrome (FXS) have been shown as significantly lower than their chronological age; however, receptive vocabulary has been considered a strength relative to mental age. This has not been formally examined, however, and data are needed to compare receptive vocabulary with other language skills and with mental age in in...... hiện toàn bộ
Family history of FXTAS is associated with age-related cognitive-linguistic decline among mothers with the FMR1 premutation
Springer Science and Business Media LLC - Tập 14 Số 1 - 2022
Jessica Klusek, Amanda J. Fairchild, Carly Moser, Marsha R. Mailick, Angela John Thurman, Leonard Abbeduto
Abstract Background Women 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 poorl...... hiện toàn bộ
Characterization of Rett Syndrome-like phenotypes in Mecp2-knockout rats
Springer Science and Business Media LLC - Tập 8 - Trang 1-12 - 2016
Yang Wu, Weiwei Zhong, Ningren Cui, Christopher M. Johnson, Hao Xing, Shuang Zhang, Chun Jiang
Rett Syndrome (RTT) is a neurodevelopmental disease caused by the disruption of the MECP2 gene. Several mouse models of RTT have been developed with Mecp2 disruptions. Although the mouse models are widely used in RTT research, results obtained need to be validated in other species. Therefore, we performed these studies to characterize phenotypes of a novel Mecp2 −/Y rat ...... hiện toàn bộ
An experimental study of executive function and social impairment in Cornelia de Lange syndrome
Springer Science and Business Media LLC - Tập 9 - Trang 1-15 - 2017
Lisa Nelson, Hayley Crawford, Donna Reid, Joanna Moss, Chris Oliver
Extreme shyness and social anxiety is reported to be characteristic of adolescents and adults with Cornelia de Lange syndrome (CdLS); however, the nature of these characteristics is not well documented. In this study, we develop and apply an experimental assessment of social anxiety in a group of adolescents and adults with CdLS to determine the nature of the social difficulties and whether they a...... hiện toàn bộ
RCAN1 knockout and overexpression recapitulate an ensemble of rest-activity and circadian disruptions characteristic of Down syndrome, Alzheimer’s disease, and normative aging
Springer Science and Business Media LLC - Tập 14 Số 1 - 2022
Helen Wong, Jordan M. Buck, Curtis Borski, Jessica Pafford, Bailey N. Keller, Ryan Milstead, Jessica L. Hanson, Jerry A. Stitzel, Charles A. Hoeffer
Abstract Background Regulator of calcineurin 1 (RCAN1) is overexpressed in Down syndrome (DS), but RCAN1 levels are also increased in Alzheimer’s disease (AD) and normal aging. AD is highly comorbid among individuals with DS and is characterized ...... hiện toàn bộ
Contributions of phonological and verbal working memory to language development in adolescents with fragile X syndrome
Springer Science and Business Media LLC - - 2011
Elizabeth I. Pierpont, Erica Kesin Richmond, Leonard Abbeduto, Sara T. Kover, W. Ted Brown
Fragile X syndrome (FXS) is the most common inherited cause of intellectual disability. Although language delays are frequently observed in FXS, neither the longitudinal course of language development nor its cognitive predictors are well understood. The present study investigated whether phonological and working memory skills are predictive of growth in vocabulary and syntax in individuals with F...... hiện toàn bộ
Intracranial arachnoid cysts: impairment of higher cognitive functions and postoperative improvement
Springer Science and Business Media LLC - - 2013
Priyanthi Borgen Gjerde, Marit Therese Schmid, Åsa Hammar, Knut Wester
Abstract Background Intracranial arachnoid cysts have been shown to yield cognitive impairment over a range of basic mental functions, and these functions normalize after surgical cyst decompression. We wanted to investigate whether such cysts may also impair executive cognitive functions, and wh...... hiện toàn bộ
The first international conference on SYNGAP1-related brain disorders: a stakeholder meeting of families, researchers, clinicians, and regulators
Springer Science and Business Media LLC - Tập 10 - Trang 1-6 - 2018
Monica Weldon, Murat Kilinc, J. Lloyd Holder, Gavin Rumbaugh
Pathologic mutations in SYNGAP1 cause a genetically defined form of intellectual disability (ID) with comorbid epilepsy and autistic features. While only recently discovered, pathogenicity of this gene is a relatively frequent genetic cause of classically undefined developmental delay that progresses to ID with commonly occurring comorbidities. A meeting of 150 people was held that included affect...... hiện toàn bộ
Reduced conditioned fear response in mice that lack Dlx1 and show subtype-specific loss of interneurons
Springer Science and Business Media LLC - Tập 1 - Trang 224-236 - 2009
Rong Mao, Damon T. Page, Irina Merzlyak, Carol Kim, Laurence H. Tecott, Patricia H. Janak, John L. R. Rubenstein, Mriganka Sur
The inhibitory GABAergic system has been implicated in multiple neuropsychiatric diseases such as schizophrenia and autism. The Dlx homeobox transcription factor family is essential for development and function of GABAergic interneurons. Mice lacking the Dlx1 gene have postnatal subtype-specific loss of interneurons and reduced IPSCs in their cortex and hippocampus. To ascertain consequences of th...... hiện toàn bộ
Exploring an objective measure of overactivity in children with rare genetic syndromes
Springer Science and Business Media LLC - Tập 16 Số 1
Rory O’Sullivan, Stacey Bissell, Georgie Agar, Jayne Spiller, Andrew Surtees, Mary Heald, Emma Clarkson, Ali Khan, Chris Oliver, Andrew P. Bagshaw, Caroline Richards
Abstract Background Overactivity is prevalent in several rare genetic neurodevelopmental syndromes, including Smith-Magenis syndrome, Angelman syndrome, and tuberous sclerosis complex, although has been predominantly assessed using questionnaire techniques. Threats to the precision and validity of q...... hiện toàn bộ
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