扩大女性脆性X震颤共济失调综合征的表型：两名患者的痉挛性发声障碍 - Suppr

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超能文献

Widening the Phenotype of Fragile-X Tremor Ataxia Syndrome in Females: Spasmodic Dysphonia in Two Patients.

作者信息

Khan Sana, Williams Stefan, Cosgrove Jeremy, Bamford John, Alty Jane

机构信息

Sheffield Teaching Hospitals NHS Trust, Sheffield, UK.

Leeds Teaching Hospitals NHS Trust, Leeds, UK.

出版信息

Mov Disord Clin Pract. 2024 Aug;11(8):1038-1040. doi: 10.1002/mdc3.14061. Epub 2024 May 30.

DOI:10.1002/mdc3.14061

PMID:38813931

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC11329571/

Abstract

摘要

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Dystonia in a Female Fragile X Premutation Carrier.一名脆性X前突变携带者女性的肌张力障碍

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Fragile X-Associated Tremor/Ataxia Syndrome (FXTAS): Pathophysiology and Clinical Implications.脆性 X 相关震颤/共济失调综合征（FXTAS）：发病机制与临床意义。

Int J Mol Sci. 2020 Jun 20;21(12):4391. doi: 10.3390/ijms21124391.

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.

Associated features in females with an FMR1 premutation.女性携带 FMR1 前突变的相关特征。

J Neurodev Disord. 2014;6(1):30. doi: 10.1186/1866-1955-6-30. Epub 2014 Jul 30.

Dystonia and the cerebellum: a new field of interest in movement disorders?肌张力障碍与小脑：运动障碍领域的新关注点？

Clin Neurophysiol. 2013 Jul;124(7):1269-76. doi: 10.1016/j.clinph.2013.01.003. Epub 2013 Feb 17.

Case report: Dystonia in a fragile X carrier.病例报告：一名脆性X染色体携带者的肌张力障碍

Mov Disord. 2014 Jun;29(7):E4-5. doi: 10.1002/mds.23600. Epub 2011 Apr 5.

Spasmodic dysphonia: a laryngeal control disorder specific to speech.痉挛性发声障碍：一种特定于言语的喉部控制障碍。

J Neurosci. 2011 Jan 19;31(3):793-7. doi: 10.1523/JNEUROSCI.2758-10.2011.

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