A Novel Syndrome of Episodic Muscle Weakness Maps to Xp22.3
Author:
Publisher
Elsevier BV
Subject
Genetics (clinical),Genetics
Reference28 articles.
1. A gene for autosomal dominant paroxysmal choreoathetosis/spasticity (CSE) maps to the vicinity of a potassium channel gene cluster on chromosome 1p, probably within 2 cM between D1S443 and D1S197;Auburger;Genomics,1996
2. X-linked late-onset sensorineural deafness caused by a deletion involving OA1 and a novel gene containing WD-40 repeats;Bassi;Am J Hum Genet,1999
3. Progressive myopathy in hyperkalemic periodic paralysis;Bradley;Arch Neurol,1990
4. Phenotype variation and newcomers in ion channel disorders;Bulmand;Hum Mol Genet,1997
5. A very high density microsatellite map (1STR/41kb) of 1.7Mb on Xp22 spanning the microphthalmia with linear skin defects syndrome critical region;Cox;Eur J Hum Genet,1998
Cited by 11 articles. 订阅此论文施引文献 订阅此论文施引文献,注册后可以免费订阅5篇论文的施引文献,订阅后可以查看论文全部施引文献
1. Disorders of the Ocular Motor Cranial Nerves and Extraocular Muscles;Neuromuscular Disorders of Infancy, Childhood, and Adolescence;2015
2. Transient Axial Hypotonia and Alteration of Consciousness in an Infant With Chiari I Malformation;Seminars in Pediatric Neurology;2010-03
3. Primary periodic paralyses;Acta Neurologica Scandinavica;2008-03
4. Periodic paralysis;Handbook of Clinical Neurology;2007
5. Unusual features in a boy with the rapsyn N88K mutation;Neurology;2006-12-26
1.学者识别学者识别
2.学术分析学术分析
3.人才评估人才评估
"同舟云学术"是以全球学者为主线,采集、加工和组织学术论文而形成的新型学术文献查询和分析系统,可以对全球学者进行文献检索和人才价值评估。用户可以通过关注某些学科领域的顶尖人物而持续追踪该领域的学科进展和研究前沿。经过近期的数据扩容,当前同舟云学术共收录了国内外主流学术期刊6万余种,收集的期刊论文及会议论文总量共计约1.5亿篇,并以每天添加12000余篇中外论文的速度递增。我们也可以为用户提供个性化、定制化的学者数据。欢迎来电咨询!咨询电话:010-8811{复制后删除}0370
www.globalauthorid.com
TOP
Copyright © 2019-2024 北京同舟云网络信息技术有限公司 京公网安备11010802033243号 京ICP备18003416号-3