Genetic investigation of amyotrophic lateral sclerosis patients in south Italy: a two-decade analysis
Author:
Funder
Consiglio Nazionale delle Ricerche
Publisher
Elsevier BV
Subject
Geriatrics and Gerontology,Developmental Biology,Clinical Neurology,Ageing,General Neuroscience
Reference45 articles.
1. Amyotrophic lateral sclerosis associated with homozygosity for an Asp90Ala mutation in CuZn-superoxide dismutase;Andersen;Nat. Genet.,1995
2. Sixteen novel mutations in the Cu/Zn superoxide dismutase gene in amyotrophic lateral sclerosis: a decade of discoveries, defects and disputes;Andersen;Amyotroph. Lateral Scler. Other Mot. Neuron Disord,2003
3. SOD1 mutations in amyotrophic lateral sclerosis;Battistini;Eur. Neurol. J.,2012
4. FUS mutations in amyotrophic lateral sclerosis: clinical, pathological, neurophysiological and genetic analysis;Blair;J. Neurol. Neurosurg. Psychiatry,2010
5. World Federation of Neurology Research Group on motor neuron diseases. El Escorial revisited: revised criteria for the diagnosis of amyotrophic lateral sclerosis;Brooks;Amyotroph. Lateral Scler. Other Mot. Neuron Disord,2000
Cited by 16 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. Increased copy-number variant load of associated risk genes in sporadic cases of amyotrophic lateral sclerosis;Cellular and Molecular Life Sciences;2024-07-27
2. Investigating Repeat Expansions in NIPA1, NOP56, and NOTCH2NLC Genes: A Closer Look at Amyotrophic Lateral Sclerosis Patients from Southern Italy;Cells;2024-04-14
3. Beyond C9orf72: repeat expansions and copy number variations as risk factors of amyotrophic lateral sclerosis across various populations;BMC Medical Genomics;2024-01-22
4. Variability in Clinical Phenotype in TARDBP Mutations: Amyotrophic Lateral Sclerosis Case Description and Literature Review;Genes;2023-11-04
5. Autosomal dominant cerebellar ataxias: new genes and progress towards treatments;The Lancet Neurology;2023-08
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