Mutational spectrum of the CHAC gene in patients with chorea-acanthocytosis

Author:

Dobson-Stone C,Danek A,Rampoldi L,Hardie RJ,Chalmers RM,Wood NW,Bohlega S,Dotti MT,Federico A,Shizuka M,Tanaka M,Watanabe M,Ikeda Y,Brin M,Goldfarb LG,Karp BI,Mohiddin S,Fananapazir L,Storch A,Fryer AE,Maddison P,Sibon I,Trevisol-Bittencourt PC,Singer C,Caballero IR,Aasly JO,Schmierer K,Dengler R,Hiersemenzel L-P,Zeviani M,Meiner V,Lossos A,Johnson S,Mercado FC,Sorrentino G,Dupré N,Rouleau GA,Volkmann J,Arpa J,Lees A,Geraud G,Chouinard S,Németh A,Monaco AP

Publisher

Springer Science and Business Media LLC

Subject

Genetics (clinical),Genetics

Reference21 articles.

1. Levine IM, Estes JW, Looney JM . Hereditary neurological disease with acanthocytosis. A new syndrome Arch Neurol 1968 19: 403–409

2. Critchley EM, Clark DB, Wikler A . An adult form of acanthocytosis Trans Am Neurol Assoc 1967 92: 132–137

3. Hardie RJ, Pullon HW, Harding AE et al. Neuroacanthocytosis. A clinical, haematological and pathological study of 19 cases Brain 1991 114 Pt 1A: 13–49

4. Kuroiwa Y, Ohnishi A, Sato Y, Kanazawa I . Chorea acanthocytosis: clinical pathological and biochemical aspects Int J Neurol 1984 18: 64–74

5. Metzer WS . Neuroacanthocytosis with autosomal dominant inheritance, normal serum CK and preserved myotatic reflexes Mov Disord 1990 5 Suppl 1: 92 (Abstract)

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