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1
The phenotypic spectrum of WWOX-related disorders: 20 additional cases of WOREE syndrome and review of the literature
In: ISSN: 1098-3600 ; Genetics in Medicine ; https://hal-amu.archives-ouvertes.fr/hal-01932796 ; Genetics in Medicine, Nature Publishing Group, 2019, 21 (6), pp.1308-1318. ⟨10.1038/s41436-018-0339-3⟩ ; https://www.nature.com/articles/s41436-018-0339-3 (2019)
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2
The phenotypic spectrum of WWOX-related disorders: 20 additional cases of WOREE syndrome and review of the literature
Piard, Juliette; Hawkes, Lara; Milh, Mathieu. - : Nature Publishing Group US, 2018
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3
Learning and Using Abstract Words: Evidence from Clinical Populations
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4
Narrative language in Williams Syndrome and its neuropsychological correlates
In: Journal of neurolinguistics. - Orlando, Fla. : Elsevier 23 (2010) 2, 97-111
BLLDB
OLC Linguistik
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5
Speaking without the cerebellum : language skills in a young adult with near total cerebellar agenesis
In: Evolution, function, nature (Amsterdam, 2007), p. 171-190
MPI für Psycholinguistik
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6
Language and social communication in children with cerebellar dysgenesis
In: Folia phoniatrica et logopaedica. - Basel : Karger 59 (2007) 4, 201-209
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OLC Linguistik
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7
Indicators of theory of mind in narrative production: a comparison between individuals with genetic syndromes and typically developing children
In: Clinical linguistics & phonetics. - London : Informa Healthcare 21 (2007) 1, 37-53
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OLC Linguistik
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8
Disorders of cognitive and affective development in cerebellar malformations
Tavano, Alessandro; Grasso, Rita; Gagliardi, Chiara. - : Oxford University Press, 2007
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9
Disorders of cognitive and affective development in cerebellar malformations
Abstract: Acquired cerebellar lesions in adults and children can lead to the development of a complex behavioural pattern termed ‘Cerebellar Cognitive Affective Syndrome’ (Schmahmann and Sherman, Brain, 1998; 121: 561–79), which is characterized by reduced cognitive efficiency associated with specific neuropsychological deficits (executive and visuospatial disorders), expressive language disorders (mild agrammatism and anomia) and affective disorders with blunting of affect. It is not known whether a symptomatological picture such as this can also be found in congenital cerebellar malformations. We studied the behavioural developmental profile of 27 patients including children and adults with congenital malformations confined to the cerebellum, the largest studied sample to date. Extensive clinical and neuropsychological investigations highlight the presence of a wide range of disorders supporting the important role played by the cerebellum in the acquisition of higher-order cognitive and affective skills. The type and extent of cerebral reorganization processes in the presence of malformative lesions are difficult to predict and may possibly account for the variability of clinical phenotypes. It is, therefore, more difficult to identify a syndromic picture defined as exactly as is the case with acquired lesions. However, the pattern of deficits that we document is in remarkable agreement with the general profile of the Cerebellar Cognitive Affective Syndrome. Malformations affecting the cerebellar vermis induce affective and social disorders and evolve towards more unfavourable pictures often associated with an autistic symptomatology. Malformations of cerebellar hemispheres are more frequently associated with selective neuropsychological deficits involving mainly executive functions and visuospatial and linguistic abilities. Motor deficits are generally less severe, and tend to improve slowly and progressively, in some cases reaching almost complete functionality. Finally, the overall favourable evolution with an onset of skills in advanced age in a consistent subset of subjects suggests that individual follow-ups should be performed in order to monitor the quality and stability of impairments and acquired abilities over time.
Keyword: Article
URL: http://brain.oxfordjournals.org/cgi/content/short/awm201v1
https://doi.org/10.1093/brain/awm201
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10
Differences in native and foreign language repetition tasks between subjects with William's and Down's syndromes
In: Journal of neurolinguistics. - Orlando, Fla. : Elsevier 15 (2002) 1, 1-10
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