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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.

DOI:10.4103/aian.aian_712_22
PMID:36911472
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC9996503/
Abstract
摘要

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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.