Zobrazeno 1 - 10
of 19
pro vyhledávání: '"Dystonia-Deafness Syndrome"'
Autor:
Inger Marie Skogseid, Oddveig Røsby, Ane Konglund, James P. Connelly, Bård Nedregaard, Greg Eigner Jablonski, Nadja Kvernmo, Asbjørg Stray-Pedersen, Joel C. Glover
Publikováno v:
Journal of Neurodevelopmental Disorders, Vol 10, Iss 1, Pp 1-8 (2018)
Abstract Background Dystonia-deafness syndrome is a well-known clinical entity, with sensorineural deafness typically manifesting earlier than dystonia. ACTB p.Arg183Trp heterozygosity has been reported in six patients to cause combined infant-onset
Externí odkaz:
https://doaj.org/article/34f7160d337f451b8d73e1e4fe049360
Publikováno v:
Movement Disorders Clinical Practice. 9:122-124
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::edd40b2ac00cd0b599d472c829f5a50b
https://doi.org/10.1002/mdc3.13358
https://doi.org/10.1002/mdc3.13358
Autor:
Sanjay Pandey, Anjali Chouksey
Publikováno v:
Parkinsonism & Related Disorders. 78:192-194
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::a1ee32346ce43be7a7fe924d9d749e64
https://doi.org/10.1016/j.parkreldis.2020.05.029
https://doi.org/10.1016/j.parkreldis.2020.05.029
Autor:
José Luiz Pedroso, Thiago Cardoso Vale, Orlando Graziani Povoas Barsottini, Júlian Letícia de Freitas
Publikováno v:
Mov Disord Clin Pract
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8f5887820e43441797a7e140d68cf2f6
https://europepmc.org/articles/PMC6962673/
https://europepmc.org/articles/PMC6962673/
Publikováno v:
Movement Disorders. 32(1):162-165
Introduction: Dystonia-deafness syndrome is a distinct clinical presentation within the dystonia-spectrum. Although several genetic and acquired causes have been reported, etiology remains unknown in the majority of patients.Objectives: To describe t
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=dris___01423::a7ed786c817b27381882f1d3296de80b
https://doi.org/10.1002/mds.26842
https://doi.org/10.1002/mds.26842
Akademický článek
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Autor:
Asbjørg Stray-Pedersen, Greg Eigner Jablonski, James P. Connelly, Joel C. Glover, Ane Konglund, Nadja Kvernmo, Bård Nedregaard, Inger Marie Skogseid, Oddveig Røsby
Publikováno v:
Journal of Neurodevelopmental Disorders
Journal of Neurodevelopmental Disorders, Vol 10, Iss 1, Pp 1-8 (2018)
Journal of Neurodevelopmental Disorders, Vol 10, Iss 1, Pp 1-8 (2018)
Background Dystonia-deafness syndrome is a well-known clinical entity, with sensorineural deafness typically manifesting earlier than dystonia. ACTB p.Arg183Trp heterozygosity has been reported in six patients to cause combined infant-onset deafness
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2c2d5c82c27c6c14a9bdda48c0279bdd
https://pubmed.ncbi.nlm.nih.gov/29788902
https://pubmed.ncbi.nlm.nih.gov/29788902
Autor:
Eggink, Hendriekje, van Egmond, Martje E., Verschuuren - Bemelmans, Corien C., Schonherr, Marleen C., de Koning, Tom J., Oterdoom, D. L. Marinus, van Dijk, J. Marc C., Tijssen, Marina A. J.
Publikováno v:
Movement Disorders, 32(1), 162-165. Wiley
Introduction: Dystonia-deafness syndrome is a distinct clinical presentation within the dystonia-spectrum. Although several genetic and acquired causes have been reported, etiology remains unknown in the majority of patients. Objectives: To describe
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=narcis______::da17d1afb9b98c387f32a651b2c7c46c
https://research.rug.nl/en/publications/8a3dabde-23fa-4a76-a5ff-5082c755b199
https://research.rug.nl/en/publications/8a3dabde-23fa-4a76-a5ff-5082c755b199
Akademický článek
Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
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K zobrazení výsledku je třeba se přihlásit.
Autor:
Havránková, Petra
Dystonia is a neurological syndrome characterized by the involuntary contraction of opposing muscles, causing twisting movements or abnormal postures (modified by Fahn, 1987). Writer's cramp is the most common form of task-specific focal dystonia. In
Externí odkaz:
http://www.nusl.cz/ntk/nusl-440026