The Expanding Genetic Landscape of Charcot-Marie-Tooth Diseases (CMTs): An Indian Perspective.
作者信息
Sanghani Nirav
机构信息
Staff Physician, Department of Neurology, St Francis Hospital and Medical Center, Hartford, CT, USA.
Assistant Professor, Department of Neurology, University of Connecticut School of Medicine, Farmington, CT, USA.
出版信息
Ann Indian Acad Neurol. 2022 Nov-Dec;25(6):991-992. doi: 10.4103/aian.aian_712_22. Epub 2022 Nov 17.
Abstract
摘要
相似文献
1
The Expanding Genetic Landscape of Charcot-Marie-Tooth Diseases (CMTs): An Indian Perspective.夏科-马里-图思病（CMTs）不断扩展的遗传图谱：印度视角
Ann Indian Acad Neurol. 2022 Nov-Dec;25(6):991-992. doi: 10.4103/aian.aian_712_22. Epub 2022 Nov 17.
2
Nerve ultrasound findings differentiate Charcot-Marie-Tooth disease (CMT) 1A from other demyelinating CMTs.神经超声检查结果可将 1A 型遗传性运动感觉神经病（CMT）与其他脱髓鞘 CMT 区分开来。
Clin Neurophysiol. 2018 Nov;129(11):2259-2267. doi: 10.1016/j.clinph.2018.08.016. Epub 2018 Sep 1.
3
Charcot-Marie-Tooth disease: an update.夏科-马里-图思病：最新进展
Curr Opin Neurol. 2004 Oct;17(5):579-85. doi: 10.1097/00019052-200410000-00008.
4
Understanding medication safety and Charcot-Marie-Tooth disease: a patient perspective.了解药物安全和夏科-马里-图什病：患者视角。
Int J Clin Pharm. 2020 Dec;42(6):1507-1514. doi: 10.1007/s11096-020-01123-z. Epub 2020 Aug 17.
5
Genetic epidemiology of Charcot-Marie-Tooth disease.夏科-马里-图思病的遗传流行病学
Acta Neurol Scand Suppl. 2012(193):iv-22. doi: 10.1111/ane.12013.
6
ALS5/SPG11/KIAA1840 mutations cause autosomal recessive axonal Charcot-Marie-Tooth disease.ALS5/SPG11/KIAA1840基因突变导致常染色体隐性遗传性轴索性夏科-马里-图斯病。
Brain. 2016 Jan;139(Pt 1):73-85. doi: 10.1093/brain/awv320. Epub 2015 Nov 10.
7
X-linked Charcot-Marie-Tooth disease predominates in a cohort of multiethnic Malaysian patients.X 连锁遗传性腓骨肌萎缩症在马来西亚多民族患者队列中占主导地位。
Muscle Nerve. 2014 Feb;49(2):198-201. doi: 10.1002/mus.23892. Epub 2013 Oct 4.
8
Charcot-Marie-Tooth disease type 2C: a distinct genetic entity. Clinical and molecular characterization of the first European family.2C型夏科-马里-图斯病：一种独特的遗传实体。首个欧洲家系的临床和分子特征
Neuromuscul Disord. 2002 May;12(4):399-404. doi: 10.1016/s0960-8966(01)00305-4.
9
Neuropathic pain in Charcot-Marie-Tooth disease: A clinical and laser-evoked potential study.Charcot-Marie-Tooth 病中的神经性疼痛：一项临床和激光诱发电位研究。
Eur J Pain. 2022 Apr;26(4):929-936. doi: 10.1002/ejp.1922. Epub 2022 Feb 17.
10
Inherited demyelinating neuropathies with micromutations of peripheral myelin protein 22 gene.遗传性脱髓鞘神经病伴外周髓鞘蛋白 22 基因突变。
Brain. 2011 Feb;134(Pt 2):608-17. doi: 10.1093/brain/awq374. Epub 2011 Jan 19.
本文引用的文献
1
Genetic Spectrum of Inherited Neuropathies in India.印度遗传性神经病的基因谱
Ann Indian Acad Neurol. 2022 May-Jun;25(3):407-416. doi: 10.4103/aian.aian_269_22. Epub 2022 Jun 14.
2
PMP22 Gene-Associated Neuropathies: Phenotypic Spectrum in a Cohort from India.PMP22 基因相关性神经病：来自印度队列的表型谱。
J Mol Neurosci. 2020 May;70(5):778-789. doi: 10.1007/s12031-020-01488-w. Epub 2020 Jan 28.
3
Clinico-Electrophysiological and Genetic Overlaps and Magnetic Resonance Imaging Findings in Charcot-Marie- Tooth Disease: A Pilot Study from Western India.夏科-马里-图斯病的临床电生理与基因重叠及磁共振成像结果：来自印度西部的一项初步研究
Ann Indian Acad Neurol. 2017 Oct-Dec;20(4):425-429. doi: 10.4103/aian.AIAN_316_17.
4
Epidemiology of Peripheral Neuropathy: An Indian Perspective.外周神经病变的流行病学：印度视角
Ann Indian Acad Neurol. 2017 Jul-Sep;20(3):173-184. doi: 10.4103/aian.AIAN_470_16.
5
Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.序列变异解读的标准与指南：美国医学遗传学与基因组学学会和分子病理学协会的联合共识推荐
Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.
Zotero 插件