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Rapport et Bilan Scientifique - 2e Symposium sur la Politique Linguistique Familiale 2021
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In: https://hal-inalco.archives-ouvertes.fr/hal-03525635 ; [Rapport de recherche] INALCO, Sorbonne Paris-Cité (SPC). 2022 (2022)
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The dynamics of foreign language values in Sweden: a social history ; Dinamika vrednot tujih jezikov na Švedskem: socialna zgodovina
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In: CEPS Journal 12 (2022) 1, S. 125-146 (2022)
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Overall, a Good Test, but…—Swedish Lower Secondary Teachers’ Perceptions and Use of National Test Results of English
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In: Languages; Volume 7; Issue 1; Pages: 64 (2022)
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Rapport et Bilan Scientifique - 2e Symposium sur la Politique Linguistique Familiale 2021
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In: https://hal-inalco.archives-ouvertes.fr/hal-03525635 ; [Rapport de recherche] INALCO, Sorbonne Paris-Cité (SPC). 2022 (2022)
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Les religions abrahamites dans le discours du Front National dans le contexte d'extrêmes droites populistes européennes
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In: Political Discourses at the Extremes: Expressions of Populism in Romance Speaking Countries ; 4 ; Stockholm Studies in Romance Languages ; 53-81 (2021)
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Interconnected literacy practices. Exploring classroom work with literature in adult second language education ...
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Continuity and change. Migrants' experiences of adult language education in Sweden ...
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Lexicography and Language Planning in 18th Century Sweden
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In: Lexikos; Vol. 30 (2020) ; 2224-0039 (2020)
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Interconnected literacy practices. Exploring classroom work with literature in adult second language education
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In: European journal for Research on the Education and Learning of Adults 11 (2020) 1, S. 45-63 (2020)
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Continuity and change. Migrants' experiences of adult language education in Sweden
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In: European journal for Research on the Education and Learning of Adults 11 (2020) 3, S. 399-414 (2020)
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Teaching through stories. Renewing the Scottish storyline approach in teacher education
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In: Münster ; New York : Waxmann 2020, 444 S. (2020)
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An exploration of English and Swedish pre-school teachers’ perspectives on their roles and values
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Les religions abrahamites dans le discours du Front National dans le contexte d’extrêmes droites populistes européennes
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In: Political Discourses at the Extremes : Expressions of Populism in Romance Speaking Countries ; https://halshs.archives-ouvertes.fr/halshs-03140784 ; Political Discourses at the Extremes : Expressions of Populism in Romance Speaking Countries, 4, Stockholm University Press, pp.53 - 81, 2019, Stockholm Studies in Romance Languages, 978-91-7635-095-9. ⟨10.16993/bax.d⟩ ; https://www.stockholmuniversitypress.se (2019)
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Teachers' beliefs and strategies when teaching reading in multilingual settings. Case studies in German, Swedish and Chilean grade 4 classrooms
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In: Berlin : Logos Verlag 2019, 310 S. - (Zugl.: Weingarten, Univ., Diss., 2018) (2019)
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Teachers' beliefs and strategies when teaching reading in multilingual settings. Case studies in German, Swedish and Chilean grade 4 classrooms ...
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Equal Access to Make Emergency Calls: A Case for Equal Rights for Deaf Citizens in Norway and Sweden
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In: Social Inclusion ; 7 ; 1 ; 173-179 ; People with disabilities: the overlooked consumers (2019)
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Décadence, Dekadenz, Dekadens: an interdiscursive exploration of decadence in German and Scandinavian literature and culture at the fin de siècle
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A multi-sensory tutoring program for students at-risk of reading difficulties: Evidence from a randomized field experiment
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The CAPOS mutation in ATP1A3 alters Na/K-ATPase function and results in auditory neuropathy which has implications for management
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Tranebjærg, Lisbeth; Strenzke, Nicola; Lindholm, Sture; Rendtorff, Nanna D.; Poulsen, Hanne; Khandelia, Himanshu; Kopec, Wojciech; Lyngbye, Troels J. Brünnich; Hamel, Christian; Delettre, Cécile; Bocquet, Beatrice; Bille, Michael; Owen, Hanne H.; Bek, Toke; Jensen, Hanne; Østergaard, Karen; Möller, Claes; Luxon, Linda; Carr, Lucinda; Wilson, Louise; Rajput, Kaukab; Sirimanna, Tony; Harrop-Griffiths, Katherine; Rahman, Shamima; Vona, Barbara; Doll, Julia; Haaf, Thomas; Bartsch, Oliver; Rosewich, Hendrik; Moser, Tobias; Bitner-Glindzicz, Maria
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In: ISSN: 0340-6717 ; EISSN: 1432-1203 ; Human Genetics ; https://hal.archives-ouvertes.fr/hal-02349575 ; Human Genetics, Springer Verlag, 2018, 137 (2), pp.111--127. ⟨10.1007/s00439-017-1862-z⟩ (2018)
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Abstract:
International audience ; Cerebellar ataxia, areflexia, pes cavus, optic atrophy and sensorineural hearing impairment (CAPOS) is a rare clinically distinct syndrome caused by a single dominant missense mutation, c.2452G\textgreaterA, p.Glu818Lys, in ATP1A3, encoding the neuron-specific alpha subunit of the Na+/K+-ATPase α3. Allelic mutations cause the neurological diseases rapid dystonia Parkinsonism and alternating hemiplegia of childhood, disorders which do not encompass hearing or visual impairment. We present detailed clinical phenotypic information in 18 genetically confirmed patients from 11 families (10 previously unreported) from Denmark, Sweden, UK and Germany indicating a specific type of hearing impairment-auditory neuropathy (AN). All patients were clinically suspected of CAPOS and had hearing problems. In this retrospective analysis of audiological data, we show for the first time that cochlear outer hair cell activity was preserved as shown by the presence of otoacoustic emissions and cochlear microphonic potentials, but the auditory brainstem responses were grossly abnormal, likely reflecting neural dyssynchrony. Poor speech perception was observed, especially in noise, which was beyond the hearing level obtained in the pure tone audiograms in several of the patients presented here. Molecular modelling and in vitro electrophysiological studies of the specific CAPOS mutation were performed. Heterologous expression studies of α3 with the p.Glu818Lys mutation affects sodium binding to, and release from, the sodium-specific site in the pump, the third ion-binding site. Molecular dynamics simulations confirm that the structure of the C-terminal region is affected. In conclusion, we demonstrate for the first time evidence for auditory neuropathy in CAPOS syndrome, which may reflect impaired propagation of electrical impulses along the spiral ganglion neurons. This has implications for diagnosis and patient management. Auditory neuropathy is difficult to treat with conventional hearing aids, but preliminary improvement in speech perception in some patients~suggests that cochlear implantation may be effective~in CAPOS patients.
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Keyword:
[SDV]Life Sciences [q-bio]; Abnormal; Adolescent; Adult; Central; Cerebellar Ataxia; Child; Congenital; Denmark; Female; Foot Deformities; Germany; Hearing Loss; Humans; Male; Missense; Molecular Dynamics Simulation; Mutation; Optic Atrophy; Phenotype; Preschool; Reflex; Retrospective Studies; Sensorineural; Sodium-Potassium-Exchanging ATPase; Sweden; Young Adult
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URL: https://doi.org/10.1007/s00439-017-1862-z https://hal.archives-ouvertes.fr/hal-02349575
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Researching health in diverse neighbourhoods: critical reflection on the use of a community research model in Uppsala, Sweden. ...
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