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Evidence of systematic attenuation in the measurement of cognitive deficits in schizophrenia.
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In: Journal of abnormal psychology, vol 126, iss 3 (2017)
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Readability and Comprehension of the Geriatric Depression Scale and PROMIS® Physical Function Items in Older African Americans and Latinos.
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In: Paz, Sylvia H; Jones, Loretta; Calderón, José L; & Hays, Ron D. (2017). Readability and Comprehension of the Geriatric Depression Scale and PROMIS® Physical Function Items in Older African Americans and Latinos. The patient, 10(1), 117 - 131. doi:10.1007/s40271-016-0191-y. UCLA: Retrieved from: http://www.escholarship.org/uc/item/8kg9j94c (2017)
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Readability and Comprehension of the Geriatric Depression Scale and PROMIS® Physical Function Items in Older African Americans and Latinos.
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In: The patient, vol 10, iss 1 (2017)
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The 1-min Screening Test for Reading Problems in College Students: Psychometric Properties of the 1-min TIL
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Comparative analysis of selected European solutions in the field of early-development support and education of children and youth with hearing impairment
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In: Selected issues of early-development support and education of children and youth with hearing impairment - comparative analysis on the example of five European countries. (2017)
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Implementation of Integrated Performance Assessments (IPA) in Beginning Level Chinese Language Classes
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Study within a trial (SWAT) protocol. Participants' perspectives and preferences on clinical trial result dissemination: The TRUST Thyroid Trial experience
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Na rota das comunidades reflexivas : um estudo de caso no âmbito do departamento de português
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Detection Test for Language Impairments in Adults and the Aged-A New Screening Test for Language Impairment Associated With Neurodegenerative Diseases: Validation and Normative Data.
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In: American journal of Alzheimer's disease and other dementias, vol. 32, no. 7, pp. 382-392 (2017)
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Psychometric properties of the Behavioural Outcomes of Anxiety questionnaire in stroke patients with aphasia.
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Проблема низкой мотивированности студентов неязыковых специальностей в приобретении знаний по иностранному языку
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ИЛЬИНА С.Е.. - : Федеральное государственное бюджетное образовательное учреждение высшего образования «Югорский государственный университет», 2016
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ПОКАЗАТЕЛИ ФИНАНСОВЫХ РЕЗУЛЬТАТОВ ПРЕДПРИЯТИЯ В СИСТЕМЕ ФИНАНСОВОЙ ОТЧЕТНОСТИ
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ПЕРЧУК О.В.. - : Государственное высшее учебное заведение «Переяслав-Хмельницкий государственный педагогический университет имени Григория Сковороды», 2016
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A human neurodevelopmental model for Williams syndrome.
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Chailangkarn, Thanathom; Trujillo, Cleber A; Freitas, Beatriz C; Hrvoj-Mihic, Branka; Herai, Roberto H; Yu, Diana X; Brown, Timothy T; Marchetto, Maria C; Bardy, Cedric; McHenry, Lauren; Stefanacci, Lisa; Järvinen, Anna; Searcy, Yvonne M; DeWitt, Michelle; Wong, Wenny; Lai, Philip; Ard, M Colin; Hanson, Kari L; Romero, Sarah; Jacobs, Bob; Dale, Anders M; Dai, Li; Korenberg, Julie R; Gage, Fred H; Bellugi, Ursula; Halgren, Eric; Semendeferi, Katerina; Muotri, Alysson R
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In: Nature, vol 536, iss 7616 (2016)
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Abstract:
Williams syndrome is a genetic neurodevelopmental disorder characterized by an uncommon hypersociability and a mosaic of retained and compromised linguistic and cognitive abilities. Nearly all clinically diagnosed individuals with Williams syndrome lack precisely the same set of genes, with breakpoints in chromosome band 7q11.23 (refs 1-5). The contribution of specific genes to the neuroanatomical and functional alterations, leading to behavioural pathologies in humans, remains largely unexplored. Here we investigate neural progenitor cells and cortical neurons derived from Williams syndrome and typically developing induced pluripotent stem cells. Neural progenitor cells in Williams syndrome have an increased doubling time and apoptosis compared with typically developing neural progenitor cells. Using an individual with atypical Williams syndrome, we narrowed this cellular phenotype to a single gene candidate, frizzled 9 (FZD9). At the neuronal stage, layer V/VI cortical neurons derived from Williams syndrome were characterized by longer total dendrites, increased numbers of spines and synapses, aberrant calcium oscillation and altered network connectivity. Morphometric alterations observed in neurons from Williams syndrome were validated after Golgi staining of post-mortem layer V/VI cortical neurons. This model of human induced pluripotent stem cells fills the current knowledge gap in the cellular biology of Williams syndrome and could lead to further insights into the molecular mechanism underlying the disorder and the human social brain.
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Keyword:
1.1 Normal biological development and functioning; 2.1 Biological and endogenous factors; Adolescent; Adult; Apoptosis; Brain; Brain Disorders; Calcium; Cell Differentiation; Cell Shape; Cellular Reprogramming; Cerebral Cortex; Chromosomes; Congenital Structural Anomalies; Dendrites; Female; Frizzled Receptors; General Science & Technology; Genetics; Haploinsufficiency; Human; Humans; Induced Pluripotent Stem Cells; Intellectual and Developmental Disabilities (IDD); Male; Mental Health; Models; Neural Stem Cells; Neurological; Neurons; Neurosciences; Pair 7; Pediatric; Phenotype; Rare Diseases; Regenerative Medicine; Reproducibility of Results; Stem Cell Research; Stem Cell Research - Induced Pluripotent Stem Cell; Stem Cell Research - Induced Pluripotent Stem Cell - Human; Stem Cell Research - Nonembryonic - Human; Stem Cell Research - Nonembryonic - Non-Human; Synapses; Williams Syndrome; Young Adult
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URL: https://escholarship.org/uc/item/6kd0g8p5
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A human neurodevelopmental model for Williams syndrome.
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In: Nature, vol 536, iss 7616 (2016)
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Natural speech reveals the semantic maps that tile human cerebral cortex.
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In: Nature, vol 532, iss 7600 (2016)
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The theoretical and practical determination of clinical cut-offs for the British Sign Language versions of PHQ-9 and GAD-7. ...
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