Myoclonus-dystonia in 18p deletion syndrome.
作者信息
Kowarik Markus C, Langer Sabine, Keri Corinna, Hemmer Bernhard, Oexle Konrad, Winkelmann Juliane
出版信息
Mov Disord. 2011 Feb 15;26(3):560-1. doi: 10.1002/mds.23446. Epub 2010 Dec 13.
PMID:21462265
Abstract
摘要
相似文献
1
Myoclonus-dystonia in 18p deletion syndrome.18p缺失综合征中的肌阵挛性肌张力障碍
Mov Disord. 2011 Feb 15;26(3):560-1. doi: 10.1002/mds.23446. Epub 2010 Dec 13.
2
GNAL deletion as a probable cause of dystonia in a patient with the 18p- syndrome.18p-综合征患者中GNAL基因缺失可能是肌张力障碍的病因。
Parkinsonism Relat Disord. 2014 Mar;20(3):351-2. doi: 10.1016/j.parkreldis.2013.12.005. Epub 2013 Dec 25.
3
Characteristics of dystonia in the 18p deletion syndrome, including a new case.18p缺失综合征中肌张力障碍的特征，包括1例新病例。
Clin Neurol Neurosurg. 2009 Dec;111(10):880-2. doi: 10.1016/j.clineuro.2009.07.013. Epub 2009 Aug 20.
4
Movement Disorders in 18p Deletion Syndrome: A Case Report and Review of Literature.
Can J Neurol Sci. 2017 Jul;44(4):441-443. doi: 10.1017/cjn.2016.444. Epub 2017 Jan 31.
5
Genetic analysis of three patients with an 18p- syndrome and dystonia.三名患有18p-综合征和肌张力障碍患者的基因分析。
Neurology. 1999 Feb;52(3):649-51. doi: 10.1212/wnl.52.3.649.
6
Unbalanced whole arm translocation resulting in loss of 18p in dystonia.不平衡的全臂易位导致肌张力障碍中18p缺失。
Mov Disord. 2006 Jun;21(6):859-63. doi: 10.1002/mds.20846.
7
Dystonia, autoimmune disease and cerebral white matter abnormalities in a patient with 18p deletion.一名18号染色体短臂缺失患者的肌张力障碍、自身免疫性疾病和脑白质异常
Arq Neuropsiquiatr. 2009 Sep;67(3A):689-91. doi: 10.1590/s0004-282x2009000400021.
8
Progressive dystonia in a child with chromosome 18p deletion, treated with intrathecal baclofen.一名患有18号染色体短臂缺失的儿童出现进行性肌张力障碍，接受鞘内注射巴氯芬治疗。
J Child Neurol. 1999 Feb;14(2):75-7. doi: 10.1177/088307389901400202.
9
Isochromosome 18p in a mother and her child.
Am J Med Genet. 1993 Jun 1;46(4):392-3. doi: 10.1002/ajmg.1320460409.
10
Optic disk and white matter abnormalities in a patient with a de novo 18p partial monosomy.一名新发18p部分单体患者的视盘和白质异常
Ophthalmic Genet. 2010 Sep;31(3):147-54. doi: 10.3109/13816810.2010.492817.
引用本文的文献
1
Prenatal Diagnosis of Partial Trisomy 6q and Partial Monosomy 18p Associated with Cephalocele: A Case Report.与脑膨出相关的6q部分三体和18p部分单体的产前诊断：一例报告
Balkan J Med Genet. 2020 Aug 26;23(1):99-102. doi: 10.2478/bjmg-2020-0014. eCollection 2020 Jun.
2
The Spectrum of Movement Disorders in 18-p Deletion Syndrome.18号染色体短臂缺失综合征中的运动障碍谱
Mov Disord Clin Pract. 2019 Oct 23;6(8):729-730. doi: 10.1002/mdc3.12834. eCollection 2019 Nov.
3
Spectrum of Movement Disorders in 18p Deletion Syndrome.18p缺失综合征中的运动障碍谱
Mov Disord Clin Pract. 2018 Dec 6;6(1):70-73. doi: 10.1002/mdc3.12707. eCollection 2019 Jan.
4
Role of Gα(olf) in familial and sporadic adult-onset primary dystonia.Gα(olf) 在家族性和散发性成人发病原发性肌张力障碍中的作用。
Hum Mol Genet. 2013 Jun 15;22(12):2510-9. doi: 10.1093/hmg/ddt102. Epub 2013 Feb 27.
5
Mutations in GNAL cause primary torsion dystonia.GNAL 基因突变导致原发性扭转痉挛。
Nat Genet. 2013 Jan;45(1):88-92. doi: 10.1038/ng.2496. Epub 2012 Dec 9.
Zotero 插件