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Test of a motor theory of long-term auditory memory.
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In: Proc Natl Acad Sci U S A , 109 (18) 7121 - 7125. (2012) (2012)
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Role of cerebellum in fine speech control in childhood: Persistent dysarthria after surgical treatment for posterior fossa tumour
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Role of cerebellum in fine speech control in childhood: Persistent dysarthria after surgical treatment for posterior fossa tumour
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In: BRAIN LANG , 117 (2) 69 - 76. (2011) (2011)
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Endophenotypes of FOXP2: Dysfunction within the human articulatory network
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In: EUR J PAEDIATR NEURO , 15 (4) 283 - 288. (2011) (2011)
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Speech and oral motor profile after childhood hemispherectomy
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Speech and oral motor profile after childhood hemispherectomy
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Is the hippocampus necessary for visual and verbal binding in working memory?
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In: NEUROPSYCHOLOGIA , 48 (4) 1089 - 1095. (2010) (2010)
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Speech and oral motor profile after childhood hemispherectomy
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In: BRAIN LANG , 114 (2) 126 - 134. (2010) (2010)
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Speaking with a single cerebral hemisphere: fMRI language organization after hemispherectomy in childhood
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In: BRAIN LANG , 106 (3) 195 - 203. (2008) (2008)
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Cortical abnormalities and language function in young patients with basal ganglia stroke
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In: NEUROIMAGE , 36 (2) 431 - 440. (2007) (2007)
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Identification of FOXP2 truncation as a novel cause of developmental speech and language deficits.
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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 (2005)
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Identification of FOXP2 truncation as a novel cause of developmental speech and language deficits
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In: American Journal of Human Genetics , 76 (6) pp. 1074-1080. (2005) (2005)
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Identification of FOXP2 truncation as a novel cause of developmental speech and language deficits
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In: AM J HUM GENET , 76 (6) 1074 - 1080. (2005) (2005)
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Identification of FOXP2 Truncation as a novel cause of developmental speech and language deficits
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MacDermot, K.D.; Bonora, E.; Sykes, N.; Coupe, A.M.; Lai, C.S.; Vernes, S.C.; Vargha-Khadem, F.; McKenzie, F.; Smith, R.L.; Monaco, A.P.; Fisher, S.E.
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In: American Journal of Human Genetics , 76 (6) pp.1074 - 1080. (2005) (2005)
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Abstract:
FOXP2, the first gene to have been implicated in a developmental communication disorder, offers a unique entry point into neuromolecular mechanisms influencing human speech and language acquisition. In multiple members of the well-studied KE family, a heterozygous missense mutation in FOXP2 causes problems in sequencing muscle movements required for articulating speech (developmental verbal dyspraxia), accompanied by wider deficits in linguistic and grammatical processing. Chromosomal rearrangements involving this locus have also been identified. Analyses of FOXP2 coding sequence in typical forms of specific language impairment (SLI), autism, and dyslexia have not uncovered any etiological variants. However, no previous study has performed mutation screening of children with a primary diagnosis of verbal dyspraxia, the most overt feature of the disorder in affected members of the KE family. Here, we report investigations of the entire coding region of FOXP2, including alternatively spliced exons, in 49 probands affected with verbal dyspraxia. We detected variants that alter FOXP2 protein sequence in three probands. One such variant is a heterozygous nonsense mutation that yields a dramatically truncated protein product and cosegregates with speech and language difficulties in the proband, his affected sibling, and their mother. Our discovery of the first nonsense mutation in FOXP2 now opens the door for detailed investigations of neurodevelopment in people carrying different etiological variants of the gene. This endeavor will be crucial for gaining insight into the role of FOXP2 in human cognition
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URL: http://discovery.ucl.ac.uk/3187/
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Language reorganization in children with early-onset lesions of the left hemisphere: an fMRI study
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In: BRAIN , 127 1229 - 1236. (2004) (2004)
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Cortical lateralization during verb generation: a combined ERP and fMRI study
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In: NEUROIMAGE , 22 (2) 665 - 675. (2004) (2004)
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Functional MRI abnormalities during covert speech associated with FOXP2 gene mutation
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In: Nature Neuroscience , 6 (11 ) pp.1230 - 1237 . (2003) (2003)
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Language fMRI abnormalities associated with FOXP2 gene mutation
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In: NAT NEUROSCI , 6 (11) 1230 - 1237. (2003) (2003)
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Behavioural analysis of an inherited speech and language disorder: comparison with acquired aphasia
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Behavioural analysis of an inherited speech and language disorder: comparison with acquired aphasia.
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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 (2002)
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