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Crossover Hinduism and Other Possible Categories When Dealing with Hinduism in Europe
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In: Religions ; Volume 12 ; Issue 9 (2021)
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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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مؤرخ يرصد استهانة المستشرقين الألمان بمكانة اللغة العربية ... : Muʾarriḫ yarṣud istihānat al-mustašriqīn al-almān bi-makānat al-luġa al-ʿarabīya ...
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مؤرخ يرصد استهانة المستشرقين الألمان بمكانة اللغة العربية ; Muʾarriḫ yarṣud istihānat al-mustašriqīn al-almān bi-makānat al-luġa al-ʿarabīya
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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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Extreme Speech| Ritualized Opposition in Danish Practices of Extremist Language and Thought
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In: International Journal of Communication; Vol 13 (2019); 18 ; 1932-8036 (2019)
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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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Re-imagining Sleswig: language and identity in the German-Danish borderlands - understanding the regional, national and transnational dimensions of minority identity
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| 9 |
Different starting points for early foreign language learning: A comparative study with Danish and Spanish young learners of English
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| 10 |
Dansk Biografisk Lexikon: Tillige Omfattende Norge for Tidsrummet 1537-1814
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| 11 |
Soziale Wahrnehmung von Vornamen - Skandinavien und Österreich im Vergleich
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| 13 |
Re-conceptualizing mother tongue tuition of Estonian abroad as a transnational phenomenon
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In: Eesti Rakenduslingvistika Ühingu Aastaraamat, Vol 13, Pp 171-185 (2017) (2017)
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Die friesische Volksgruppe im Bundesland Schleswig-Holstein
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In: Europa Regional ; 11.2003 ; 1 ; 12-16 (2016)
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Zwischen englischsprachigem Studium und landessprachigem Umfeld : internationale Absolventen deutscher und dänischer Hochschulen
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IDS Mannheim
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