Zobrazeno 1 - 10
of 115
pro vyhledávání: '"Dyt1 gene"'
Autor:
Juliane Winkelmann, Zuzana Gdovinova, Vladimir Han, Anna Fečíková, Petra Pavelekova, Michael Zech, Alexandra Mosejova, Robert Jech, Dušan Urgošík, Anna Krepelova, Matej Skorvanek, Petra Havránková, Z. Liba
Publikováno v:
Parkinsonism & Related Disorders. 83:54-55
DYT1 gene mutations lead to early-onset dystonia that begins with focal limb onset and spreads to other body regions within 5 years, with typical sparing of the oromandibular muscles. In the present study, we describe two patients with an unusual pre
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::cc901ec652a0d75eff78ff8d67f4aa31
https://doi.org/10.1016/j.parkreldis.2020.12.019
https://doi.org/10.1016/j.parkreldis.2020.12.019
Autor:
Venkateshwarla Rama Raju
Publikováno v:
IFMBE Proceedings ISBN: 9789811090370
We investigated the hand muscles of Dystonia Writer’s cramp (WC) subjects affected due to DYT1 gene mutations in the brain. In clinical environments WC is done subjectively and lacking the objective. Therefore, the aim of the study is to determine
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::2a45cf7a6965de4b8a028a3c4d5228e0
https://doi.org/10.1007/978-981-10-9038-7_27
https://doi.org/10.1007/978-981-10-9038-7_27
Autor:
Marco Davare, Reinhold Schmidt, Anna Sadnicka, Mark J. Edwards, John C. Rothwell, Petra Katschnig-Winter, Kailash P. Bhatia, Petra Schwingenschuh
Publikováno v:
Journal of Clinical Neuroscience. 21:934-938
Motor sequence learning and motor adaptation rely on overlapping circuits predominantly involving the basal ganglia and cerebellum. Given the importance of these brain regions to the pathophysiology of primary dystonia, and the previous finding of ab
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5de4b96f4f24ec81c2bd63740a904f52
https://doi.org/10.1016/j.jocn.2013.08.019
https://doi.org/10.1016/j.jocn.2013.08.019
Publikováno v:
Movement Disorders. 28(6):827-831
BACKGROUND: Studies of genetic association between TOR1A and adult-onset primary torsion dystonia have contradictory results.METHODS: The authors genotyped TOR1A single nucleotide polymorphisms rs1801968, rs2296793, rs1182 and rs3842225 in a cohort o
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=dris___01423::3d4b5fd2ceda494971c21bb687933218
https://research.rug.nl/en/publications/af802aa8-0d50-41d6-8541-f75b5010df87
https://research.rug.nl/en/publications/af802aa8-0d50-41d6-8541-f75b5010df87
Publikováno v:
Medical Principles and Practice. 21:462-466
Objective: To test Iranian patients with primary torsion dystonia to determine the frequency of 904–906 del GAG mutation in the DYT1 (TOR1A) gene and to investigate the genotype-phenotype association for this disease. Subjects and Methods: Sixty-th
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::9cb393c4069d8e60523fd46c743e67eb
https://doi.org/10.1159/000336783
https://doi.org/10.1159/000336783
Publikováno v:
Future Neurology. 3:61-72
Early-onset torsion dystonia is a severe generalized form of primary dystonia, with most cases caused by a specific mutation (ΔGAG) in the DYT1 gene encoding torsinA. This mutation is autosomal dominant and is thought to result in reduced torsinA ac
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::316da2a80251d55b2e36045a09e9010f
https://doi.org/10.2217/14796708.3.1.61
https://doi.org/10.2217/14796708.3.1.61
Autor:
Sherwin Su, Maren Carbon, Phoebe G. Spetsieris, Susan B. Bressman, David Eidelberg, Gwenn S. Smith, Peter B. Kingsley
Publikováno v:
Annals of Neurology. 56:283-286
We tested the hypothesis that the DYT1 genotype is associated with a disorder of anatomical connectivity involving primarily the sensorimotor cortex. We used diffusion tensor magnetic resonance imaging (DTI) to assess the microstructure of white matt
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::772a9ac56e8f7b63fbb66db37d18070f
https://doi.org/10.1002/ana.20177
https://doi.org/10.1002/ana.20177
Publikováno v:
European Journal of Neurology. 19:924-926
The D216H single-nucleotide polymorphism (SNP) (rs1801968) in DYT1 exon 4 has been suggested to be a genetic modifier in primary dystonia.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::6e664f95871f55067b1cb082958415ab
https://doi.org/10.1111/j.1468-1331.2011.03582.x
https://doi.org/10.1111/j.1468-1331.2011.03582.x
Autor:
Norbert Mai, Leonhard Riedel, Markus Naumann, Joerg Wissel, Joerg Mueller, Thomas Gasser, Christoph Kamm
Publikováno v:
Movement Disorders. 15:1238-1241
A 3-base pair (GAG) deletion in the DYT1 gene has recently been found to be responsible for most cases of early-onset primary generalized dystonia. In some cases, this mutation has been associated with writer's cramp. To determine the frequency of th
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::b8b2ac800ff389b9c1e649067aa215be
https://doi.org/10.1002/1531-8257(200011)15:6<1238::aid-mds1027>3.0.co
https://doi.org/10.1002/1531-8257(200011)15:6<1238::aid-mds1027>3.0.co