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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 Hits 1 – 10 of 10 1 Increased prevalence of sex chromosome aneuploidies in specific language impairment and dyslexia. Simpson, NH; Addis, L; Brandler, WM... In: Symplectic Elements at Oxford ; Europe PubMed Central ; PubMed (http://www.ncbi.nlm.nih.gov/pubmed/) ; Web of Science (Lite) (http://apps.webofknowledge.com/summary.do) ; Scopus (http://www.scopus.com/home.url) ; CrossRef (2014) BASE Show details 2 Increased prevalence of sex chromosome aneuploidies in specific language impairment and dyslexia Simpson, NH; Addis, L; Brandler, WM... In: Symplectic Elements at Oxford ; Scopus (http://www.scopus.com/home.url) (2014) BASE Show details 3 GRIN2A mutations in acquired epileptic aphasia and related childhood focal epilepsies and encephalopathies with speech and language dysfunction Lesca, G; Rudolf, G; Bruneau, N; Lozovaya, N; Labalme, A; Boutry-Kryza, N; Salmi, M; Tsintsadze, T; Addis, L; Motte, J; Wright, S; Tsintsadze, V; Michel, A; Doummar, D; Lascelles, K; Strug, L; Waters, P; De Bellescize, J; Vrielynck, P; De Saint Martin, A; Ville, D; Ryvlin, P; Arzimanoglou, A; Hirsch, E; Vincent, A; Pal, D; Burnashev, N; Sanlaville, D; Szepetowski, P In: Symplectic Elements at Oxford ; Scopus (http://www.scopus.com/home.url) (2013) Abstract: Epileptic encephalopathies are severe brain disorders with the epileptic component contributing to the worsening of cognitive and behavioral manifestations. Acquired epileptic aphasia (Landau-Kleffner syndrome, LKS) and continuous spike and waves during slow-wave sleep syndrome (CSWSS) represent rare and closely related childhood focal epileptic encephalopathies of unknown etiology. They show electroclinical overlap with rolandic epilepsy (the most frequent childhood focal epilepsy) and can be viewed as different clinical expressions of a single pathological entity situated at the crossroads of epileptic, speech, language, cognitive and behavioral disorders. Here we demonstrate that about 20% of cases of LKS, CSWSS and electroclinically atypical rolandic epilepsy often associated with speech impairment can have a genetic origin sustained by de novo or inherited mutations in the GRIN2A gene (encoding the N-methyl-D-aspartate (NMDA) glutamate receptor α2 subunit, GluN2A). The identification of GRIN2A as a major gene for these epileptic encephalopathies provides crucial insights into the underlying pathophysiology. © 2013 Nature America, Inc. All rights reserved. URL: https://doi.org/10.1038/ng.2726 BASE Hide details 4 Investigation of dyslexia and SLI risk variants in reading- and language-impaired subjects. Newbury, DF; Paracchini, S; Scerri, TS... In: Symplectic Elements at Oxford ; Europe PubMed Central ; PubMed (http://www.ncbi.nlm.nih.gov/pubmed/) ; Web of Science (Lite) (http://apps.webofknowledge.com/summary.do) ; Scopus (http://www.scopus.com/home.url) ; CrossRef (2011) BASE Show details 5 A locus for an auditory processing deficit and language impairment in an extended pedigree maps to 12p13.31-q14.3. Addis, L; Friederici, AD; Kotz, SA... In: Symplectic Elements at Oxford ; Europe PubMed Central ; PubMed (http://www.ncbi.nlm.nih.gov/pubmed/) ; Web of Science (Lite) (http://apps.webofknowledge.com/summary.do) ; Scopus (http://www.scopus.com/home.url) ; CrossRef (2010) BASE Show details 6 A locus for an auditory processing deficit and language impairment in an extended pedigree maps to 12p13.31-q14.3 Addis, L; Friederici, A D; Kotz, S A. - : Blackwell Publishing Ltd, 2010 BASE Show details 7 CMIP and ATP2C2 modulate phonological short-term memory in language impairment. Clark, A; Bishop, DV; Monaco, AP... In: Symplectic Elements at Oxford ; Europe PubMed Central ; PubMed (http://www.ncbi.nlm.nih.gov/pubmed/) ; Web of Science (Lite) (http://apps.webofknowledge.com/summary.do) ; Scopus (http://www.scopus.com/home.url) ; CrossRef (2009) BASE Show details 8 CMIP and ATP2C2 Modulate Phonological Short-Term Memory in Language Impairment Ragoussis, Jiannis; Everitt, Andrea; Addis, L.. - 2009 BASE Show details 9 Genetic and phenotypic effects of phonological short-term memory and grammatical morphology in specific language impairment. Falcaro, M; Pickles, A; Newbury, DF... In: Symplectic Elements at Oxford ; Europe PubMed Central ; PubMed (http://www.ncbi.nlm.nih.gov/pubmed/) ; Web of Science (Lite) (http://apps.webofknowledge.com/summary.do) ; Scopus (http://www.scopus.com/home.url) ; CrossRef (2008) BASE Show details 10 Genetic and phenotypic effects of phonological short-term memory and grammatical morphology in specific language impairment Falcaro, M.; Pickles, A.; Newbury, D. F.. - 2008 BASE Show details

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