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Foxp2 regulates gene networks implicated in neurite outgrowth in the developing brain.
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In: ISSN: 1553-7390 ; EISSN: 1553-7404 ; PLoS Genetics ; https://www.hal.inserm.fr/inserm-00715268 ; PLoS Genetics, Public Library of Science, 2011, 7 (7), pp.e1002145. ⟨10.1371/journal.pgen.1002145⟩ (2011)
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Auditory cortical N100 in pre- and post-synaptic auditory neuropathy to frequency or intensity changes of continuous tones.
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In: Clinical neurophysiology : official journal of the International Federation of Clinical Neurophysiology, vol 122, iss 3 (2011)
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Founder effect and estimation of the age of the Progranulin Thr272fs mutation in 14 Italian pedigrees with frontotemporal lobar degeneration
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Triagem auditiva neonatal: das alterações auditivas à análise molecular Newborn hearing screening: from audiological alterations to molecular analyses
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In: Revista CEFAC, Vol 13, Iss 5, Pp 909-916 (2011) (2011)
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Semantic Mutation Testing
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In: http://www.cs.york.ac.uk/%7Ejac/PublishedPapers/semantic_journal4.pdf (2010)
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Deletions of NRXN1 (neurexin-1) predispose to a wide spectrum of developmental disorders.
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In: American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics, vol 153B, iss 4 (2010)
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Kırgız Türkçesindeki Rusça Alıntı Sözcükler ve Bu Sözcüklerdeki Ünsüz Olayları
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In: Zeitschrift für die Welt der Türken / Journal of World of Turks; Vol 2, No 2 (2010): [ZfWT] Vol. 2, No. 2 (2010); 227-241 (2010)
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Syndromes of nonfluent primary progressive aphasia A clinical and neurolinguistic analysis
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In: NEUROLOGY , 75 (7) 603 - 610. (2010) (2010)
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Phonology Shaped by Phonetics: The Case of Intervocalic Lenition
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Nucleotide modifications in three functionally important regions of the Saccharomyces cerevisiae ribosome affect translation accuracy.
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In: ISSN: 0305-1048 ; EISSN: 1362-4962 ; Nucleic Acids Research ; https://hal.archives-ouvertes.fr/hal-00527402 ; Nucleic Acids Research, Oxford University Press, 2009, 37 (22), pp.7665-77. ⟨10.1093/nar/gkp816⟩ (2009)
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ХАРАКТЕР ОБУСЛОВЛЕННОСТИ СТЕПЕНИ СЕМАНТИЧЕСКОГО ОТРЫВА ОМОНИМОВ В АДЪЕКТИВНЫХ СЛОВООБРАЗОВАТЕЛЬНЫХ ОМОНИМИЧЕСКИХ РЯДАХ
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Mutation of OPA1 gene causes deafness by affecting function of auditory nerve terminals.
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In: Brain research, vol 1300 (2009)
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FOXP2 as a molecular window into speech and language.
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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)
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Unravelling neurogenetic networks implicated in developmental language disorders.
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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)
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Investigação genética da surdez hereditária: mutação do gene da Conexina 26 Genetic investigation of hereditary deafness: connexin 26 gene mutation
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In: Revista da Sociedade Brasileira de Fonoaudiologia, Vol 14, Iss 1, Pp 142-147 (2009) (2009)
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Impaired synaptic plasticity and motor learning in mice with a point mutation implicated in human speech deficits.
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Groszer, M; Keays, DA; Deacon, RM; de Bono, JP; Prasad-Mulcare, S; Gaub, S; Baum, MG; French, CA; Nicod, J; Coventry, JA; Enard, W; Fray, M; Brown, SD; Nolan, PM; Pääbo, S; Channon, KM; Costa, RM; Eilers, J; Ehret, G; Rawlins, JN; Fisher, SE
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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)
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Abstract:
The most well-described example of an inherited speech and language disorder is that observed in the multigenerational KE family, caused by a heterozygous missense mutation in the FOXP2 gene. Affected individuals are characterized by deficits in the learning and production of complex orofacial motor sequences underlying fluent speech and display impaired linguistic processing for both spoken and written language. The FOXP2 transcription factor is highly similar in many vertebrate species, with conserved expression in neural circuits related to sensorimotor integration and motor learning. In this study, we generated mice carrying an identical point mutation to that of the KE family, yielding the equivalent arginine-to-histidine substitution in the Foxp2 DNA-binding domain. Homozygous R552H mice show severe reductions in cerebellar growth and postnatal weight gain but are able to produce complex innate ultrasonic vocalizations. Heterozygous R552H mice are overtly normal in brain structure and development. Crucially, although their baseline motor abilities appear to be identical to wild-type littermates, R552H heterozygotes display significant deficits in species-typical motor-skill learning, accompanied by abnormal synaptic plasticity in striatal and cerebellar neural circuits.
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Keyword:
Alleles; Animal; Animals; Forkhead Transcription Factors; Heterozygote; Humans; Knockout; Learning; Mice; Motor Skills; Neuronal Plasticity; Point Mutation; Repressor Proteins; Speech Disorders; Vocalization
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URL: https://doi.org/10.1016/j.cub.2008.01.060
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Mapping cortical thickness in children with 22q11.2 deletions
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In: http://cercor.oxfordjournals.org/content/17/8/1889.full.pdf (2007)
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Mapping cortical thickness in children with 22q11.2 deletions
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In: http://cercor.oxfordjournals.org/content/early/2006/10/20/cercor.bhl097.full.pdf (2007)
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Mapping cortical thickness in children with 22q11.2 deletions
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In: http://www.ucdmc.ucdavis.edu/mindinstitute/research/cabil/publications/simon22q-cort-thickness.pdf (2007)
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