Myotonic dystrophy type 2 in Japan: ancestral origin distinct from Caucasian families-Reference-Cited by-同舟云学术

登录注册会员服务联系我们

Myotonic dystrophy type 2 in Japan: ancestral origin distinct from Caucasian families

Published:2007-12-05 Issue:1 Volume:9 Page:61-63
ISSN:1364-6745
Container-title:Neurogenetics
language:en
Short-container-title:Neurogenetics

Author:

Saito Tsukasa,Amakusa Yoshinobu,Kimura Takashi,Yahara Osamu,Aizawa Hitoshi,Ikeda Yoshio,Day John W.,Ranum Laura P. W.,Ohno Kinji,Matsuura Tohru

Publisher

Springer Science and Business Media LLC

Subject

Cellular and Molecular Neuroscience,Genetics (clinical),Genetics

Link

http://link.springer.com/content/pdf/10.1007/s10048-007-0110-4.pdf

Reference11 articles.

1. Liquori CL, Ricker K, Moseley ML, Jacobsen JF, Kress W, Naylor SL, Day JW, Ranum LP (2001) Myotonic dystrophy type 2 caused by a CCTG expansion in intron 1 of ZNF9. Science 293:864–867

2. Ricker K, Koch MC, Lehmann-Horn F, Pongratz D, Otto M, Heine R, Moxley RT 3rd (1994) Proximal myotonic myopathy: a new dominant disorder with myotonia, muscle weakness, and cataracts. Neurology 44:1448–1452

3. Udd B, Krahe R, Wallgren-Petterson C, Falck B, Kalimo H (1997) Proximal myotonic dystrophy: a family with autosomal dominant muscular dystrophy, cataracts, hearing loss and hypogonadism: heterogeneity of proximal myotonic syndromes? Neuromuscul Disord 7:217–228

4. Thornton CA, Griggs RC, Moxley RT (1994) Myotonic dystrophy with no trinucleotide repeat expansion. Ann Neurol 35:269–272

5. Bachinski LL, Udd B, Meola G, Sansone V, Bassez G, Eymard B, Thornton CA, Moxley RT, Harper PS, Rogers MT, Jurkart-Rott K, Lehmann-Horn F, Wieser T, Gamez J, Navarro C, Bottani A, Kohler A, Shriver MD, Sallinen R, Wessman M, Zhang S, Wright FA, Krahe R (2003) Confirmation of type 2 myotonic dystrophy (CCTG)n expansion mutation in patients with proximal myotonic myopathy/proximal myotonic dystrophy of different European origins: a single shared haplotype indicates an ancestral founder effect. Am J Hum Genet 73:835–848

Cited by 17 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. Sporadic Myotonic Dystrophy Type 2 in a Japanese Patient;Internal Medicine;2023-10-15

2. Current Treatment Options for Patients with Myotonic Dystrophy Type 2;Current Treatment Options in Neurology;2021-09

3. Cerebral involvement and related aspects in myotonic dystrophy type 2;Neuromuscular Disorders;2021-08

4. Ancestral Origin of the First Indian Families with Myotonic Dystrophy Type 2;Journal of Neuromuscular Diseases;2021-07-30

5. Evidence for a relatively high proportion of DM2 mutations in a large group of Polish patients;Neurologia i Neurochirurgia Polska;2018-11

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