Age at onset in sod1-mediated amyotrophic lateral sclerosis shows familiality.

作者信息

Fogh Isabella, Rijsdijk Fruhling, Andersen Peter M, Sham Pak C, Knight Joanne, Neale Benjamin, McKenna-Yasek Diane, Silani Vincenzo, Brown Robert H, Powell John F, Al-Chalabi Ammar

出版信息

Neurogenetics. 2007 Aug;8(3):235-6. doi: 10.1007/s10048-007-0092-2. Epub 2007 Jun 5.

DOI:10.1007/s10048-007-0092-2

PMID:17549529

Abstract

摘要

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Age at onset in sod1-mediated amyotrophic lateral sclerosis shows familiality.

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本文引用的文献

A shared chromosome-21 haplotype among amyotrophic lateral sclerosis families with the A4V SOD1 mutation.

Clin Genet. 2004 Sep;66(3):247-50. doi: 10.1111/j.1399-0004.2004.00298.x.

Venezuelan kindreds reveal that genetic and environmental factors modulate Huntington's disease age of onset.委内瑞拉家族研究表明，遗传和环境因素会调节亨廷顿舞蹈症的发病年龄。

Proc Natl Acad Sci U S A. 2004 Mar 9;101(10):3498-503. doi: 10.1073/pnas.0308679101. Epub 2004 Mar 1.

Age at onset in two common neurodegenerative diseases is genetically controlled.两种常见神经退行性疾病的发病年龄受基因控制。

Am J Hum Genet. 2002 Apr;70(4):985-93. doi: 10.1086/339815. Epub 2002 Mar 1.

Linkage of type 2 diabetes mellitus and of age at onset to a genetic location on chromosome 10q in Mexican Americans.2型糖尿病及发病年龄与墨西哥裔美国人10号染色体上一个基因位点的连锁关系。

Am J Hum Genet. 1999 Apr;64(4):1127-40. doi: 10.1086/302316.

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

Brain. 1996 Aug;119 ( Pt 4):1153-72. doi: 10.1093/brain/119.4.1153.

A frequent ala 4 to val superoxide dismutase-1 mutation is associated with a rapidly progressive familial amyotrophic lateral sclerosis.常见的丙氨酸4突变为缬氨酸的超氧化物歧化酶-1突变与快速进展性家族性肌萎缩侧索硬化症相关。

Hum Mol Genet. 1994 Jun;3(6):981-7. doi: 10.1093/hmg/3.6.981.

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