Fragile X-associated Tremor/Ataxia Syndrome in an Adolescent Female.
作者信息
Mittal Shivam Om, Mack Kenneth, Bower James H
机构信息
Department of Neurology Mayo Clinic Rochester Minnesota.
Department of Pediatric Neurology Mayo Clinic Rochester Minnesota.
出版信息
Mov Disord Clin Pract. 2017 Jun 27;4(5):778-780. doi: 10.1002/mdc3.12513. eCollection 2017 Sep-Oct.
Abstract
摘要
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本文引用的文献
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Developmental profiles of infants with an premutation.携带前突变的婴儿的发育概况。
J Neurodev Disord. 2016 Nov 3;8:40. doi: 10.1186/s11689-016-9171-8. eCollection 2016.
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Fragile X-associated tremor/ataxia syndrome - features, mechanisms and management.脆性 X 相关震颤/共济失调综合征 - 特征、机制与管理。
Nat Rev Neurol. 2016 Jul;12(7):403-12. doi: 10.1038/nrneurol.2016.82. Epub 2016 Jun 24.
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X-inactivation in the clinical phenotype of fragile X premutation carrier sisters.脆性 X 前突变携带者姐妹的临床表型中的 X 染色体失活。
Neurol Genet. 2016 Feb 3;2(1):e45. doi: 10.1212/NXG.0000000000000045. eCollection 2016 Feb.
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Neurological and endocrine phenotypes of fragile X carrier women.脆性X染色体携带者女性的神经学和内分泌表型
Clin Genet. 2016 Jan;89(1):60-7. doi: 10.1111/cge.12646. Epub 2015 Sep 4.
5
Increased prevalence of seizures in boys who were probands with the FMR1 premutation and co-morbid autism spectrum disorder.脆性 X 智力低下 1 号前突变伴发孤独症谱系障碍先证者男孩中癫痫发病率增高。
Hum Genet. 2012 Apr;131(4):581-9. doi: 10.1007/s00439-011-1106-6. Epub 2011 Oct 15.
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Fragile X-premutation tremor/ataxia syndrome (FXTAS) in a young woman: clinical, genetics, MRI and 1H-MR spectroscopy correlates.
Coll Antropol. 2011 Jan;35 Suppl 1:327-32.
7
Co-occurring conditions associated with FMR1 gene variations: findings from a national parent survey.与FMR1基因变异相关的共病情况：一项全国性家长调查的结果
Am J Med Genet A. 2008 Aug 15;146A(16):2060-9. doi: 10.1002/ajmg.a.32439.
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Autism spectrum disorders and attention-deficit/hyperactivity disorder in boys with the fragile X premutation.脆性X前突变男孩中的自闭症谱系障碍和注意力缺陷多动障碍
J Dev Behav Pediatr. 2006 Apr;27(2 Suppl):S137-44. doi: 10.1097/00004703-200604002-00012.
9
Fragile-X-associated tremor/ataxia syndrome (FXTAS) in females with the FMR1 premutation.携带FMR1前突变的女性中的脆性X相关震颤/共济失调综合征（FXTAS）。
Am J Hum Genet. 2004 May;74(5):1051-6. doi: 10.1086/420700. Epub 2004 Apr 2.
10
Penetrance of the fragile X-associated tremor/ataxia syndrome in a premutation carrier population.脆性X相关震颤/共济失调综合征在前突变携带者群体中的外显率。
JAMA. 2004 Jan 28;291(4):460-9. doi: 10.1001/jama.291.4.460.
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