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Dynamic functional brain network connectivity during pseudoword processing relates to children’s reading skill
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| 2 |
Parental Perceptions and Decisions Regarding Maintaining Bilingualism in Autism. ...
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Influence of encoding difficulty, word frequency, and phonological regularity on age differences in word naming.
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Age-related differences in the neural bases of phonological and semantic processes.
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Parental Perceptions and Decisions Regarding Maintaining Bilingualism in Autism.
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DYT-TUBB4A (DYT4 Dystonia): New Clinical and Genetic Observations.
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Bally, J.F.; Camargos, S.; Oliveira Dos Santos, C.; Kern, D.S.; Lee, T.; Pereira da Silva-Junior, F.; Puga, R.D.; Cardoso, F.; Barbosa, E.R.; Yadav, R.; Ozelius, L.J.; de Carvalho Aguiar, P.; Lang, A.E.
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In: Neurology, vol. 96, no. 14, pp. e1887-e1897 (2021)
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Abstract:
To report 4 novel TUBB4A mutations leading to laryngeal and cervical dystonia with frequent generalization. We screened 4 families including a total of 11 definitely affected members with a clinical picture resembling the original description. Four novel variants in the TUBB4A gene have been identified: D295N, R46M, Q424H, and R121W. In silico modeling showed that all variants have characteristics similar to R2G. The variants segregate with the disease in 3 of the families with evidence of incomplete penetrance in 2 of them. All 4 variants would be classified as likely pathogenic. The clinical picture particularly included laryngeal dystonia (often the site of onset), associated with cervical and upper limb dystonia and frequent generalization. Laryngeal dystonia was extremely prevalent (>90%) both in the original cases and in this case series. The hobby horse gait was evident in only 1 patient in this case series. Our interpretation is that laryngeal involvement is a hallmark feature of DYT-TUBB4A. Nevertheless, TUBB4A mutations remain an exceedingly rare cause of laryngeal or other isolated dystonia.
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Keyword:
Adolescent; Adult; Child; Dystonia Musculorum Deformans/genetics; Dystonia/genetics; Female; Humans; Male; Middle Aged; Pedigree; Polymorphism; Preschool; Single Nucleotide; Tubulin/genetics; Voice Disorders/congenital; Voice Disorders/genetics; Young Adult
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URL: https://doi.org/10.1212/WNL.0000000000010882
https://serval.unil.ch/notice/serval:BIB_AC699A0A2882
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Prostate-Specimen Antigen (PSA) Screening and Shared Decision Making Among Deaf and Hearing Male Patients.
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In: Journal of cancer education : the official journal of the American Association for Cancer Education, vol 35, iss 1 (2020)
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Effect of voicing and articulation manner on aerosol particle emission during human speech.
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In: PloS one, vol 15, iss 1 (2020)
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Health comorbidities and cognitive abilities across the lifespan in Down syndrome. ...
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Rapid computations of spectrotemporal prediction error support perception of degraded speech. ...
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| 11 |
Role of maternal age at birth in child development among Indigenous and non-Indigenous Australian children in their first school year: a population-based cohort study
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| 12 |
Health comorbidities and cognitive abilities across the lifespan in Down syndrome.
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| 13 |
Nonnative implicit phonetic training in multiple reverberant environments.
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In: Attention, perception & psychophysics, vol 81, iss 4 (2019)
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| 14 |
Promotion of Healthy Humor Cancer Education Messages for the Deaf Community.
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In: Journal of cancer education : the official journal of the American Association for Cancer Education, vol 34, iss 2 (2019)
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Children's biobehavioral reactivity to challenge predicts DNA methylation in adolescence and emerging adulthood.
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In: Developmental science, vol 22, iss 2 (2019)
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The health profile of newly-arrived refugee women and girls and the role of region of origin: using a population-based dataset in California between 2013 and 2017.
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In: International journal for equity in health, vol 18, iss 1 (2019)
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| 18 |
Time Points: A Gestural Study of the Development of Space-Time Mappings.
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In: Cognitive science, vol 43, iss 12 (2019)
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STXBP1-associated neurodevelopmental disorder: a comparative study of behavioural characteristics. ...
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Memory for prose in Korsakoff and schizophrenic populations.
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