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1
Genome-wide association study reveals new insights into the heritability and genetic correlates of developmental dyslexia
In: ISSN: 1359-4184 ; EISSN: 1476-5578 ; Molecular Psychiatry ; https://hal.archives-ouvertes.fr/hal-02976104 ; Molecular Psychiatry, Nature Publishing Group, 2020, ⟨10.1038/s41380-020-00898-x⟩ (2020)
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2
Sporadic and Familial Variants in NF1: An Explanation of the Wide Variability in Neurocognitive Phenotype?
In: ISSN: 1664-2295 ; Frontiers in Neurology ; https://hal.archives-ouvertes.fr/hal-02614595 ; Frontiers in Neurology, Frontiers, 2020, 11, pp.368. ⟨10.3389/fneur.2020.00368⟩ (2020)
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3
Sporadic and Familial Variants in NF1: An Explanation of the Wide Variability in Neurocognitive Phenotype?
In: Front Neurol (2020)
Abstract: Background: Cognitive impairment is the most common neurological manifestation in NF1 and occurs in 30–70% of NF1 cases. The onset and severity of each specific cognitive deficit varies greatly from child to child, with no apparent external causes. The wide variability of phenotype is the most complex aspect in terms of management and care. Despite multiple research, the mechanism underlying the high heterogeneity in NF1 has not yet been elucidated. While many studies have focused on the effects of specific and precise genetic mutations on the NF1 phenotype, little has been done on the impact of NF1 transmission (sporadic vs. familial cases). We used a complete neuropsychological evaluation designed to assess five large cognitive areas: general cognitive functions (WISC-IV and EVIP); reading skills (“L'Alouette,” ODEDYS-2 and Lobrot French reading tests); phonological process (ODEDYS-2 test); visual perceptual skills (JLO, Thurstone and Corsi block tests) and attention (CPT-II), as well as psychosocial adjustments (CBCL) to explore the impact of NF1 transmission on cognitive disease manifestation in 96 children affected by NF1 [55 sporadic cases (29♀, 26♂); 41 familial cases (24♀, 17♂)]. Results: Familial and Sporadic form of NF1 only differ in IQ expression. The families' socioeconomic status (SES) impacts IQ performance but not differently between sporadic and familial variants. However, SES is lower in familial variants than in the sporadic variant of NF1. No other cognitive differences emerge between sporadic and familial NF1. Conclusions: Inheritance in NF1 failed to explain the phenotype variability in its entirety. IQ differences between groups seems in part linked to the environment where the child grows up. Children with NF1, and especially those that have early diagnoses (most often in inherited cases), must obtain careful monitoring from their early childhood, at home to strengthen investment in education and in school to early detect emerging academic problems and to quickly place them into care. Trial Registration: IDRCB, IDRCB2008-A01444-51. Registered 19 January 2009.
Keyword: Neurology
URL: https://doi.org/10.3389/fneur.2020.00368
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7214842/
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4
Reproducibility of Brain Responses: High for Speech Perception, Low for Reading Difficulties
In: Scientific Reports (2019)
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5
Deficit in phonological processes: a characteristic of the neuropsychological profile of children with NF1
In: ISSN: 0929-7049 ; EISSN: 1744-4136 ; Child Neuropsychology ; https://hal.archives-ouvertes.fr/hal-01763025 ; Child Neuropsychology, Taylor & Francis (Routledge), 2018, 24 (4), pp.558 - 574. ⟨10.1080/09297049.2017.1313970⟩ (2018)
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6
Dyslexies développementales : évidences et nouveautés
Ianuzzi, S. (Mitwirkender); Brun, Vincent (Herausgeber); Barry, Isabelle (Mitwirkender). - Montpellier : Sauramps Médical, 2017
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UB Frankfurt Linguistik
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7
Phonological skills, visual attention span, and visual stress in developmental dyslexia.
In: ISSN: 0012-1649 ; Developmental Psychology ; https://hal.archives-ouvertes.fr/hal-01400569 ; Developmental Psychology, American Psychological Association, 2016, 52 (10), pp.1503 - 1516. ⟨10.1037/dev0000184⟩ (2016)
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8
Genetic analysis of dyslexia candidate genes in the European cross-linguistic NeuroDys cohort
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9
Genetic analysis of dyslexia candidate genes in the European cross-linguistic NeuroDys cohort
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10
Genetic analysis of dyslexia candidate genes in the European cross-linguistic NeuroDys cohort
Becker, Jessica; Czamara, Darina; Scerri, Tom S. - : Nature Publishing Group, 2014
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11
Genetic analysis of dyslexia candidate genes in the European cross-linguistic NeuroDys cohort
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12
Predictors of developmental dyslexia in European orthographies with varying complexity.
In: ISSN: 0021-9630 ; EISSN: 1469-7610 ; Journal of Child Psychology and Psychiatry ; https://hal.archives-ouvertes.fr/hal-00965034 ; Journal of Child Psychology and Psychiatry, Wiley, 2013, 54 (6), pp.686-94. ⟨10.1111/jcpp.12029⟩ (2013)
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13
Genetic analysis of dyslexia candidate genes in the European cross-linguistic NeuroDys cohort.
In: ISSN: 1018-4813 ; EISSN: 1476-5438 ; European Journal of Human Genetics ; https://hal.archives-ouvertes.fr/hal-00964958 ; European Journal of Human Genetics, Nature Publishing Group, 2013, epub ahead of print. ⟨10.1038/ejhg.2013.199⟩ (2013)
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14
Facial emotion labeling in language impaired children
In: Applied psycholinguistics. - Cambridge [u.a.] : Cambridge Univ. Press 32 (2011) 4, 781-798
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OLC Linguistik
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15
Facial emotion labeling in language impaired children
In: ISSN: 0142-7164 ; EISSN: 1469-1817 ; Applied Psycholinguistics ; https://hal-normandie-univ.archives-ouvertes.fr/hal-03265822 ; Applied Psycholinguistics, Cambridge University Press (CUP), 2011, 32 (4), pp.781-798. ⟨10.1017/S0142716411000063⟩ (2011)
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16
Remediation Effects on N170 and P300 in Children with Developmental Dyslexia
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17
Influence of visual versus phonological remediation in dyslexia subtypes
In: Revue parole. - Mons : Univ. (2008) 45, 49-80
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OLC Linguistik
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