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Variants in the ALS2 gene are not associated with sporadic amyotrophic lateral sclerosis.

作者信息

Al-Chalabi Ammar, Hansen Valerie K, Simpson Claire L, Xi Jing, Hosler Betsy A, Powell John F, McKenna-Yasek Diane, Shaw Christopher E, Leigh P Nigel, Brown Robert H

出版信息

Neurogenetics. 2003 Aug;4(4):221-2. doi: 10.1007/s10048-003-0152-1. Epub 2003 May 27.

DOI:10.1007/s10048-003-0152-1
PMID:12768434
Abstract
摘要

相似文献

1
Variants in the ALS2 gene are not associated with sporadic amyotrophic lateral sclerosis.
Neurogenetics. 2003 Aug;4(4):221-2. doi: 10.1007/s10048-003-0152-1. Epub 2003 May 27.
2
Single-nucleotide polymorphisms in uncoding regions of ALS2 gene of Japanese patients with autosomal-recessive amyotrophic lateral sclerosis.常染色体隐性遗传性肌萎缩侧索硬化症日本患者ALS2基因非编码区的单核苷酸多态性
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Mutation screening of the ALS2 gene in sporadic and familial amyotrophic lateral sclerosis.散发性和家族性肌萎缩侧索硬化症中ALS2基因的突变筛查
Arch Neurol. 2003 Dec;60(12):1768-71. doi: 10.1001/archneur.60.12.1768.
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Novel mutation in the ALS2 gene in juvenile amyotrophic lateral sclerosis.青少年肌萎缩侧索硬化症中ALS2基因的新突变。
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A gene encoding a putative GTPase regulator is mutated in familial amyotrophic lateral sclerosis 2.一种编码假定GTP酶调节因子的基因在家族性肌萎缩侧索硬化症2型中发生突变。
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The gene encoding alsin, a protein with three guanine-nucleotide exchange factor domains, is mutated in a form of recessive amyotrophic lateral sclerosis.编码alsin（一种具有三个鸟嘌呤核苷酸交换因子结构域的蛋白质）的基因在一种隐性肌萎缩侧索硬化症中发生突变。
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[Recessive motor neuron diseases: mutations in the ALS2 gene and molecular pathogenesis for the upper motor neurodegeneration].[隐性运动神经元疾病：ALS2基因中的突变与上运动神经元神经变性的分子发病机制]
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引用本文的文献

1
Targeted Genetic Screen in Amyotrophic Lateral Sclerosis Reveals Novel Genetic Variants with Synergistic Effect on Clinical Phenotype.肌萎缩侧索硬化症的靶向基因筛查揭示了对临床表型具有协同作用的新型基因变异。
Front Mol Neurosci. 2017 Nov 9;10:370. doi: 10.3389/fnmol.2017.00370. eCollection 2017.
2
ALS drug development: reflections from the past and a way forward.肌萎缩侧索硬化症药物研发：回顾与展望
Neurotherapeutics. 2008 Oct;5(4):516-27. doi: 10.1016/j.nurt.2008.08.002.

本文引用的文献

1
A gene encoding a putative GTPase regulator is mutated in familial amyotrophic lateral sclerosis 2.一种编码假定GTP酶调节因子的基因在家族性肌萎缩侧索硬化症2型中发生突变。
Nat Genet. 2001 Oct;29(2):166-73. doi: 10.1038/ng1001-166.
2
The gene encoding alsin, a protein with three guanine-nucleotide exchange factor domains, is mutated in a form of recessive amyotrophic lateral sclerosis.编码alsin（一种具有三个鸟嘌呤核苷酸交换因子结构域的蛋白质）的基因在一种隐性肌萎缩侧索硬化症中发生突变。
Nat Genet. 2001 Oct;29(2):160-5. doi: 10.1038/ng1001-160.
3
Copper/zinc superoxide dismutase 1 and sporadic amyotrophic lateral sclerosis: analysis of 155 cases and identification of a novel insertion mutation.
铜/锌超氧化物歧化酶1与散发性肌萎缩侧索硬化症：155例分析及一种新插入突变的鉴定
Ann Neurol. 1997 Nov;42(5):803-7. doi: 10.1002/ana.410420518.
4
Association mapping of disease loci, by use of a pooled DNA genomic screen.通过使用混合DNA基因组筛选进行疾病基因座的关联作图。
Am J Hum Genet. 1997 Sep;61(3):734-47. doi: 10.1086/515512.
5
Mutations in Cu/Zn superoxide dismutase gene are associated with familial amyotrophic lateral sclerosis.铜锌超氧化物歧化酶基因突变与家族性肌萎缩侧索硬化症相关。
Nature. 1993 Mar 4;362(6415):59-62. doi: 10.1038/362059a0.
6
Independence tests for VNTR alleles defined as quantile bins.针对定义为分位数区间的VNTR等位基因的独立性检验。
Am J Hum Genet. 1993 Nov;53(5):1107-13.
7
"Sporadic" motoneuron disease due to familial SOD1 mutation with low penetrance.
Lancet. 1994;344(8939-8940):1773. doi: 10.1016/s0140-6736(94)92913-0.
8
Monte Carlo tests for associations between disease and alleles at highly polymorphic loci.针对高度多态性位点处疾病与等位基因之间关联的蒙特卡罗检验。
Ann Hum Genet. 1995 Jan;59(1):97-105. doi: 10.1111/j.1469-1809.1995.tb01608.x.