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All fields Title Creator / Publisher Keyword Year AND OR AND NOT All fields Title Creator / Publisher Keyword Year AND OR AND NOT All fields Title Creator / Publisher Keyword Year AND OR AND NOT All fields Title Creator / Publisher Keyword Year AND OR AND NOT All fields Title Creator / Publisher Keyword Year Sort by creator [A → Z]' creator [Z → A]' publishing year ↑ (asc)' publishing year ↓ (desc)' title [A → Z]' title [Z → A]' Simple Search Page: 1 2 3 4 5...10 Hits 1 – 20 of 192 1 Effects of Age on American Sign Language Sentence Repetition Corina, David P.; Farnady, Lucinda; LaMarr, Todd... In: Psychol Aging (2020) BASE Show details 2 A human neurodevelopmental model for Williams syndrome. Chailangkarn, Thanathom; Trujillo, Cleber A; Freitas, Beatriz C... In: Nature, vol 536, iss 7616 (2016) BASE Show details 3 A human neurodevelopmental model for Williams syndrome. 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 In: Nature, vol 536, iss 7616 (2016) 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. 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 URL: https://escholarship.org/uc/item/6kd0g8p5 BASE Hide details 4 An fMRI Study of Perception and Action in Deaf Signers Okada, Kayoko; Rogalsky, Corianne; O’Grady, Lucinda. - 2016 BASE Show details 5 Neural basis of action understanding: Evidence from sign language aphasia Rogalsky, Corianne; Raphel, Kristin; Tomkovicz, Vivian... In: Aphasiology. - London [u.a.] : Routledge, Taylor & Francis Group 27 (2013) 9, 1147-1158 OLC Linguistik Show details 6 Musicality Correlates With Sociability and Emotionality in Williams Syndrome Ng, Rowena; Lai, Philip; Levitin, Daniel J.. - 2013 BASE Show details 7 Neural Basis of Action Understanding: Evidence from Sign Language Aphasia Rogalsky, Corianne; Raphel, Kristin; Tomkovicz, Vivian. - 2013 BASE Show details 8 Neural organization of language : clues from sign language aphasia Hickok, Greg; Bellugi, Ursula In: The handbook of psycholinguistic and cognitive processes (New York, NY, 2011), p. 687-708 MPI für Psycholinguistik Show details 9 Language and sociability: insights from Williams syndrome Fishman, Inna; Yam, Anna; Bellugi, Ursula. - : Springer US, 2011 BASE Show details 10 Intelligence in Williams Syndrome is related to STX1A, which encodes a component of the presynaptic SNARE complex. Gao, Michael C; Bellugi, Ursula; Dai, Li... In: PloS one, vol 5, iss 4 (2010) BASE Show details 11 The fusiform face area is enlarged in Williams syndrome Golarai, Golijeh; Hong, Sungjin; Haas, Brian W.. - 2010 BASE Show details 12 Intelligence in Williams Syndrome Is Related to STX1A, Which Encodes a Component of the Presynaptic SNARE Complex Gao, Michael C.; Bellugi, Ursula; Dai, Li. - : Public Library of Science, 2010 BASE Show details 13 Neural organization of linguistic short-term memory is sensory modality-dependent: evidence from signed and spoken language Pickell, Herbert; Wilson, Stephen M.; Hickok, Gregory... In: Journal of cognitive neuroscience. - Cambridge, Mass. : MIT Press Journals 20 (2008) 12, 2198-2210 BLLDB OLC Linguistik Show details 14 Neural Dissociation in the Production of Lexical versus Classifier Signs in ASL: Distinct Patterns of Hemispheric Asymmetry Hickok, Gregory; Pickell, Herbert; Klima, Edward. - 2008 BASE Show details 15 Neural Organization of Linguistic Short-Term Memory is Sensory Modality-Dependent: Evidence from Signed and Spoken Language Pa, Judy; Wilson, Stephen M.; Pickell, Herbert. - 2008 BASE Show details 16 Patterns of paraphasic errors in a visual–gestural language Pickell, Herbert; Klima, Edward S; Bellugi, Ursula... In: Brain & language. - Orlando, Fla. [u.a.] : Elsevier 103 (2007) 1-2, 238 OLC Linguistik Show details 17 Neural substrates for verbal working memory in deaf signers : fMRI study and lesion case report Love-Geffen, Tracy E.; Hatrak, Marla; Buchsbaum, Bradley... In: Brain & language. - Orlando, Fla. [u.a.] : Elsevier 95 (2005) 2, 265-272 BLLDB OLC Linguistik Show details 18 Narratives in children with Williams Syndrome : a cross-linguistic perspective Reilly, Judy; Bernicot, Josie; Vicari, Stefano... In: Perspectives on language and language development (Dordrecht, 2005), p. 303-312 MPI für Psycholinguistik Show details 19 Narratives in French and American children with Williams syndrome Reilly, Judy; Lacroix, Agnès; Poirier, Josée... In: Le langage et l'homme. - Louvain-la-Neuve : EME Éditions 40 (2005) 2, 111-125 BLLDB Show details 20 Mechanisms of verbal memory impairment in four neurodevelopmental disorders Nichols, Sharon; Jones, Wendy; Roman, Mary J.... In: Brain & language. - Orlando, Fla. [u.a.] : Elsevier 88 (2004) 2, 180-189 OLC Linguistik Show details Page: 1 2 3 4 5...10

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