"Cataplexy" and muscle ultrasound abnormalities in Coffin-Lowry syndrome.

Author:

Crow Y J,Zuberi S M,McWilliam R,Tolmie J L,Hollman A,Pohl K,Stephenson J B

Publisher

BMJ

Subject

Genetics (clinical),Genetics

Reference21 articles.

1. Mental retardation with osteocartilaginous anomalies;Coffin, G.S.; Siris, E.; Wegienka, L.C.;Am.7 Dis Child,1966

2. A new dominant gene mental retardation syndrome: association with small stature, tapering fingers, characteristic facies, and possible hydrocephalus;Lowry, B.; Miller, JR, Fraser; F.C.;Am _J Dis Child,1971

3. The Coffin-Lowry syndrome. J7 Med;Young, I.D.;Genet,1988

4. Mutations in the kinase Rsk-2 associated with Coffin-Lowry syndrome;Trivier, E.; De Cesare, D.; Jacquot, S.;Nature,1996

5. Ultrasound imaging in the diagnosis of muscle disease;Heckmatt, J.Z.; Leeman, S.; Dubowitz, V.;JPediatr,1982

Cited by 35 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. COFFIN–LOWRY SYNDROME;Cassidy and Allanson's Management of Genetic Syndromes;2020-10-30

2. The clinical spectrum of childhood narcolepsy;Sleep Medicine Reviews;2018-04

3. Cataplexy and Its Mimics: Clinical Recognition and Management;Current Treatment Options in Neurology;2017-05-06

4. The Differential Diagnosis of Epilepsy;Epilepsy and Intellectual Disabilities;2016

5. Coffin-Lowry syndrome;Journal of Pediatric Neurology;2015-07-30

同舟云学术

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