SOD1 mutations in amyotrophic lateral sclerosis

Author:

Battistini S.,Giannini F.,Greco G.,Bibbò G.,Ferrera L.,Marini V.,Causarano R.,Casula M.,Lando G.,Patrosso M. C.,Caponnetto C.,Origone P.,Marocchi A.,Del Corona A.,Siciliano G.,Carrera P.,Mascia V.,Giagheddu M.,Carcassi C.,Orrù S.,Garrè C.,Penco S.

Publisher

Springer Science and Business Media LLC

Subject

Neurology (clinical),Neurology

Reference35 articles.

1. Aguirre T, Matthijs G, Robberecht W, Tilkin P, Cassiman JJ (1999) Mutational analysis of the Cu/Zn superoxide dismutase gene in 23 familial and 69 sporadic cases of amyotrophic lateral sclerosis in Belgium. Eur J Hum Genet 7:599–602

2. Al-Chalabi A, Andersen PM, Chioza B, Shaw C, Sham PC, Robberecht W, Matthijs G, Camu W, Marklund SL, Forsgren L, Rouleau G, Laing NG, Hurse PV, Siddique T, Leigh PN, Powell JF (1998) Recessive amyotrophic lateral sclerosis families with the D90A SOD1 mutation share a common founder: evidence for a linked protective factor. Hum Mol Genet 7:2045–2050

3. Andersen PM, Forsgren L, Binzer M, Nilsson P, Ala-Hurula V, Keranen M, Saarinen A, Haltia T, Tarvainen I, Kinnunen E, Udd B, Marklund SL (1996) Autosomal recessive adult-onset ALS associated with homozygosity for Asp90Ala CuZn superoxide dismutase mutation. A clinical and genealogical study of 36 patients. Brain 119:1153–1172

4. Andersen PM, Nilsson P, Ala-Hurula V, Keranen ML, Tarvainen I, Haltia T, Nilsson L, Binzer M, Forsgren L, Marklund SL (1995) Amyotrophic lateral sclerosis associated with homozygosity for an Asp90Ala mutation in CuZn superoxide dismutase. Nat Genet 10:61–66

5. Andersen PM, Sims KB, Xin WW, Kiely R, O’Neill G, Ravits J, Pioro E, Harati Y, Brower RD, Levine JS, Heinicke HU, Seltzer W, Boss M, Brown RH Jr (2003) Sixteen novel mutations in the Cu/Zn superoxide dismutase gene in amyotrophic lateral sclerosis: a decade of discoveries, defects and disputes. Amyotroph Lateral Scler Other Motor Neuron Disord 4:62–72

Cited by 82 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

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