Hereditary motor neuron disease in a large Norwegian family with a “H46R” substitution in the superoxide dismutase 1 gene-Reference-Cited by-同舟云学术

登录注册会员服务联系我们

Hereditary motor neuron disease in a large Norwegian family with a “H46R” substitution in the superoxide dismutase 1 gene

Published:2012-06 Issue:6 Volume:22 Page:511-521
ISSN:0960-8966
Container-title:Neuromuscular Disorders
language:en
Short-container-title:Neuromuscular Disorders

Author:

Østern Rune,Fagerheim Toril,Ørstavik Kristin,Holmøy Trygve,Heiberg Arvid,Lund-Petersen Inger,Strom Tim M.,Nilssen Øivind,Dahl Arve

Publisher

Elsevier BV

Subject

Genetics (clinical),Neurology (clinical),Neurology,Pediatrics, Perinatology and Child Health

Reference33 articles.

1. El Escorial revisited: revised criteria for the diagnosis of amyotrophic lateral sclerosis;Brooks;Amyotroph Lateral Scler Other Motor Neuron Disord,2000

2. Amyotrophic lateral sclerosis associated with mutations in the CuZn superoxide dismutase gene;Andersen;Curr Neurol Neurosci Rep,2006

3. A rare Cu/Zn superoxide dismutase mutation causing familial amyotrophic lateral sclerosis with variable age of onset, incomplete penetrance and a sensory neuropathy;Rezania;Amyotroph Lateral Scler Other Motor Neuron Disord,2003

4. Autosomal recessive adult-onset amyotrophic lateral sclerosis associated with homozygosity for Asp90Ala CuZn-superoxide dismutase mutation. A clinical and genealogical study of 36 patients;Andersen;Brain,1996

5. Early onset of severe familial amyotrophic lateral sclerosis with a SOD-1 mutation: potential impact of CNTF as a candidate modifier gene;Giess;Am J Hum Genet,2002

Cited by 13 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. Multifaceted superoxide dismutase 1 expression in amyotrophic lateral sclerosis patients: a rare occurrence?;Neural Regeneration Research;2024-04-03

2. Another de novo mutation in the SOD1 gene: the first Turkish patient with SOD1-His47Arg, a case report;Frontiers in Genetics;2023-08-25

3. Advantages of routine next‐generation sequencing over standard genetic testing in the amyotrophic lateral sclerosis clinic;European Journal of Neurology;2023-05-28

4. Genetic Epidemiology of Amyotrophic Lateral Sclerosis in Norway: A 2-Year Population-Based Study;Neuroepidemiology;2022

5. Putative founder effect in the Polish, Iranian and United States populations for the L144S SOD1 mutation associated with slowly uniform phenotype of amyotrophic lateral sclerosis;Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration;2020-08-10

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