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1
The role of the alpha-synuclein gene mutation in patients with sporadic Parkinson's disease in the United Kingdom.α-突触核蛋白基因突变在英国散发性帕金森病患者中的作用。
J Neurol Neurosurg Psychiatry. 1998 Sep;65(3):378-9. doi: 10.1136/jnnp.65.3.378.
2
Absence of mutations in the coding region of the alpha-synuclein gene in pathologically proven Parkinson's disease.
Neurology. 1998 Apr;50(4):1136-7. doi: 10.1212/wnl.50.4.1136.
3
The G209A mutation in the alpha-synuclein gene is not detected in familial cases of Parkinson disease in non-Greek and/or Italian populations.在非希腊和/或意大利人群的帕金森病家族病例中未检测到α-突触核蛋白基因的G209A突变。
Arch Neurol. 1998 Dec;55(12):1521-3. doi: 10.1001/archneur.55.12.1521.
4
Mutations in the alpha-synuclein gene in Parkinson's disease among Indians.印度帕金森病患者中α-突触核蛋白基因的突变
Acta Neurol Scand. 2001 Feb;103(2):120-2. doi: 10.1034/j.1600-0404.2001.103002120.x.
5
Absence of G209A and G88C mutations in the alpha-synuclein gene of Parkinson's disease in a Chinese population.中国人群帕金森病α-突触核蛋白基因中不存在G209A和G88C突变。
Eur Neurol. 1999;42(4):217-20. doi: 10.1159/000008110.
6
The G209A mutation in the alpha-synuclein gene in Brazilian families with Parkinson's disease.巴西帕金森病家族中α-突触核蛋白基因的G209A突变。
Arq Neuropsiquiatr. 2001 Sep;59(3-B):722-4. doi: 10.1590/s0004-282x2001000500013.
7
Lack of mutation G209A in the alpha-synuclein gene in French patients with familial and sporadic Parkinson's disease.法国家族性和散发性帕金森病患者α-突触核蛋白基因中不存在G209A突变。
J Neurol Neurosurg Psychiatry. 1998 Dec;65(6):948-9. doi: 10.1136/jnnp.65.6.948.
8
No mutation of G209A in the alpha-synuclein gene in sporadic Parkinson's disease among Taiwan Chinese.台湾华裔散发性帕金森病患者中α-突触核蛋白基因未发生G209A突变。
Eur Neurol. 1999;41(2):85-7. doi: 10.1159/000008008.
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A case of late onset sporadic Parkinson's disease with an A53T mutation in alpha-synuclein.一例伴有α-突触核蛋白A53T突变的迟发性散发性帕金森病。
J Neurol Neurosurg Psychiatry. 2005 Apr;76(4):596-7. doi: 10.1136/jnnp.2004.046425.
10
Haploinsufficiency at the alpha-synuclein gene underlies phenotypic severity in familial Parkinson's disease.α-突触核蛋白基因单倍剂量不足是家族性帕金森病表型严重程度的基础。
Brain. 2003 Jan;126(Pt 1):32-42. doi: 10.1093/brain/awg010.

引用本文的文献

1
Significant Changes in Plasma Alpha-Synuclein and Beta-Synuclein Levels in Male Children with Autism Spectrum Disorder.自闭症谱系障碍男童血浆α-突触核蛋白和β-突触核蛋白水平的显著变化。
Biomed Res Int. 2018 Apr 8;2018:4503871. doi: 10.1155/2018/4503871. eCollection 2018.
2
Dopaminergic neuronal imaging in genetic Parkinson's disease: insights into pathogenesis.遗传帕金森病中的多巴胺能神经元成像:发病机制的新见解。
PLoS One. 2013 Jul 23;8(7):e69190. doi: 10.1371/journal.pone.0069190. Print 2013.

α-突触核蛋白基因突变在英国散发性帕金森病患者中的作用。

The role of the alpha-synuclein gene mutation in patients with sporadic Parkinson's disease in the United Kingdom.

作者信息

Warner T T, Schapira A H

机构信息

University Department of Clinical Neurosciences, Royal Free Hospital School of Medicine, London, UK.

出版信息

J Neurol Neurosurg Psychiatry. 1998 Sep;65(3):378-9. doi: 10.1136/jnnp.65.3.378.

DOI:10.1136/jnnp.65.3.378
PMID:9728955
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC2170250/
Abstract

Parkinson's disease is a common neurodegenerative disorder of unknown aetiology. A pathogenic point mutation within the a-synuclein gene has recently been identified in one Italian-American kindred and three families of Greek origin with parkinsonism. DNA from 70 patients with Parkinson's disease was screened for this G209A mutation. No samples were positive for the mutation, suggesting that it is not relevant for most patients with sporadic idiopathic Parkinson's disease.

摘要

帕金森病是一种病因不明的常见神经退行性疾病。最近在一个意大利裔美国家族以及三个希腊裔帕金森病家族中发现了α-突触核蛋白基因内的一个致病点突变。对70例帕金森病患者的DNA进行了该G209A突变的筛查。没有样本检测出该突变呈阳性,这表明它与大多数散发性特发性帕金森病患者无关。