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@article{938400, author = {Jech, Robert and Bareš, Martin and Křepelová, Anna and Urgošík, Dušan and Havránková, Petra and Růžička, Evžen}, article_number = {5}, doi = {http://dx.doi.org/10.1002/mds.23599}, keywords = {DYT 6-A Novel THAP1 Mutation Pallidal DBS}, language = {eng}, issn = {0885-3185}, journal = {Movement Disorders}, title = {DYT 6-A Novel THAP1 Mutation With Excellent Effect on Pallidal DBS}, url = {http://onlinelibrary.wiley.com/doi/10.1002/mds.23599/pdf}, volume = {26}, year = {2011} }
TY - JOUR ID - 938400 AU - Jech, Robert - Bareš, Martin - Křepelová, Anna - Urgošík, Dušan - Havránková, Petra - Růžička, Evžen PY - 2011 TI - DYT 6-A Novel THAP1 Mutation With Excellent Effect on Pallidal DBS JF - Movement Disorders VL - 26 IS - 5 SP - 924-925 EP - 924-925 SN - 08853185 KW - DYT 6-A Novel THAP1 Mutation Pallidal DBS UR - http://onlinelibrary.wiley.com/doi/10.1002/mds.23599/pdf N2 - DYT6 is an early-onset dystonia caused by variable mutations of the gene encoding the thanatos-associated protein (THAP1).1 It usually starts in the cranial region or on the upper extremities with subsequent generalization. It has been reported that deep brain stimulation of the internal globus pallidus (GPi-DBS) has moderate or unsatisfactory effects in these patients.2,3 We describe a novel mutation of the THAP1 gene in 2 siblings (a boy and a girl) with a rapid generalization into a life-threatening status dystonicus (SD) in the boy. Unlike in the 7 previously reported patients,2,3 in his case, we observed excellent long-term effects from bilateral GPi-DBS. ER -
JECH, Robert, Martin BAREŠ, Anna KŘEPELOVÁ, Dušan URGOŠÍK, Petra HAVRÁNKOVÁ a Evžen RŮŽIČKA. DYT 6-A Novel THAP1 Mutation With Excellent Effect on Pallidal DBS. \textit{Movement Disorders}. 2011, roč.~26, č.~5, s.~924-925. ISSN~0885-3185. Dostupné z: https://dx.doi.org/10.1002/mds.23599.
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