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De-novo KMT2B mutation in a consanguineous family: 15-Year follow-up of an Afghan dystonia patient.

作者信息

Klein Christine, Baumann Hauke, Olschewski Luisa, Hanssen Henrike, Münchau Alexander, Ferbert Andreas, Brüggemann Norbert, Lohmann Katja

机构信息

Institute of Neurogenetics, University of Lübeck, Lübeck, Germany.

Institute of Neurogenetics, University of Lübeck, Lübeck, Germany; Department of Neurology, University Hospital Schleswig-Holstein, Campus Lübeck, Germany.

出版信息

Parkinsonism Relat Disord. 2019 Jul;64:337-339. doi: 10.1016/j.parkreldis.2019.03.018. Epub 2019 Mar 25.

DOI:10.1016/j.parkreldis.2019.03.018
PMID:30935829
Abstract
摘要

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Brain. 2020 Dec 5;143(11):3242-3261. doi: 10.1093/brain/awaa304.
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Radiofrequency ablation for DYT-28 dystonia: short term follow-up of three adult cases.射频消融治疗 DYT-28 型肌张力障碍：3 例成人短期随访结果
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