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相似文献

1
The paradigm of Huntington disease.亨廷顿舞蹈症的范例。
Am J Hum Genet. 1989 Jul;45(1):169-75.
2
Localization of the gene for a novel autosomal recessive neurodegenerative Huntington-like disorder to 4p15.3.一种新型常染色体隐性遗传性亨廷顿样神经退行性疾病的基因定位于4p15.3。
Am J Hum Genet. 2000 Feb;66(2):445-52. doi: 10.1086/302744.
3
George Huntington: the man behind the eponym.乔治·亨廷顿:以其名字命名疾病的人。
J Med Genet. 1993 May;30(5):406-9. doi: 10.1136/jmg.30.5.406.
4
[Genetic epidemiology of Huntington chorea in Chile].
Rev Med Chil. 1987 May;115(5):483-5.
5
Hunting for Huntington's disease.寻找亨廷顿舞蹈症
Mol Genet Med. 1993;3:139-58. doi: 10.1016/b978-0-12-462003-2.50009-2.
6
Slow search for Huntington's disease gene.
Nature. 1992 May 7;357(6373):following 94.
7
Images in neuroscience. Clinical genetics, I. Huntington's disease: from disease to gene.
Am J Psychiatry. 1997 Jun;154(6):725. doi: 10.1176/ajp.154.6.725.
8
History of genetic disease: the molecular genetics of Huntington disease - a history.遗传疾病史:亨廷顿舞蹈症的分子遗传学——一段历史。
Nat Rev Genet. 2005 Oct;6(10):766-73. doi: 10.1038/nrg1686.
9
Interpretation of linkage data for a Huntington-like disorder mapping to 4p15.3.定位到4p15.3的一种亨廷顿氏病样疾病的连锁数据解读。
Am J Hum Genet. 2000 Jul;67(1):262-3. doi: 10.1086/302975.
10
[Epidemiology and cases of early manifestations of Huntington chorea].[亨廷顿舞蹈症的流行病学及早期表现病例]
Zh Nevropatol Psikhiatr Im S S Korsakova. 1987;87(3):340-2.

引用本文的文献

1
Synthesis and Evaluation of a Fluorine-18 Radioligand for Imaging Huntingtin Aggregates by Positron Emission Tomographic Imaging.用于正电子发射断层成像的18F放射性配体的合成与评价,用于亨廷顿蛋白聚集体成像
Front Neurosci. 2021 Dec 2;15:766176. doi: 10.3389/fnins.2021.766176. eCollection 2021.
2
Scientific and ethical consequences of disease prediction.
Diabetologia. 1992 Dec;35(Suppl. 2):S60-8. doi: 10.1007/BF00586280.

本文引用的文献

1
A polymorphic DNA marker genetically linked to Huntington's disease.一种与亨廷顿舞蹈症基因连锁的多态性DNA标记。
Nature. 1983;306(5940):234-8. doi: 10.1038/306234a0.
2
Construction of a genetic linkage map in man using restriction fragment length polymorphisms.利用限制性片段长度多态性构建人类遗传连锁图谱。
Am J Hum Genet. 1980 May;32(3):314-31.
3
A sensitive new prenatal test for sickle-cell anemia.一种用于镰状细胞贫血的新型灵敏产前检测方法。
N Engl J Med. 1982 Jul 1;307(1):30-2. doi: 10.1056/NEJM198207013070105.
4
DNA markers for nervous system diseases.神经系统疾病的DNA标记物。
Science. 1984 Sep 21;225(4668):1320-6. doi: 10.1126/science.6089346.
5
The morbid anatomy of the human genome: a review of gene mapping in clinical medicine (2).
Medicine (Baltimore). 1987 Jan;66(1):1-63. doi: 10.1097/00005792-198701000-00001.
6
DNA polymorphism and human disease.DNA多态性与人类疾病。
Annu Rev Biochem. 1986;55:831-54. doi: 10.1146/annurev.bi.55.070186.004151.
7
Deletion of Huntington's disease-linked G8 (D4S10) locus in Wolf-Hirschhorn syndrome.沃尔夫-赫希霍恩综合征中亨廷顿舞蹈病相关G8(D4S10)基因座的缺失。
Nature. 1985;318(6041):75-8. doi: 10.1038/318075a0.
8
Huntington's disease: two families with differing clinical features show linkage to the G8 probe.
Science. 1985 Aug 23;229(4715):776-9. doi: 10.1126/science.2992086.
9
Testing for the Huntington gene: a right to know, a right not to know, or a duty to know.亨廷顿基因检测:知情权、不知情权还是知晓义务。
Am J Med Genet. 1987 Feb;26(2):243-6. doi: 10.1002/ajmg.1320260202.
10
A highly polymorphic locus very tightly linked to the Huntington's disease gene.一个与亨廷顿舞蹈症基因紧密连锁的高度多态性位点。
Nature. 1988 Apr 21;332(6166):734-6. doi: 10.1038/332734a0.

亨廷顿舞蹈症的范例。

The paradigm of Huntington disease.

作者信息

Jenkins J B, Conneally P M

机构信息

Department of Biology, Swarthmore College, PA 19081.

出版信息

Am J Hum Genet. 1989 Jul;45(1):169-75.

PMID:2525874
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC1683365/
Abstract

I recall it as vividly as though it had occurred but yesterday. It made a most enduring impression upon my boyish mind which was my very first impulse to choosing chorea as my virgin contribution to medical lore. Driving with my father through a wooded road leading from East Hampton to Amagansett we suddenly came upon two women, mother and daughter, both tall and thin, almost cadaverous, both bowing, twisting, grimacing. I stared in wonderment, almost in fear. What could it mean? My father paused to speak with them and we passed on. Then my Gamaliel-like instruction began; my medical education had its inception. From this point on, my interest in the disease has never wholly ceased. [George Huntington, at 59, recalling how at the age of 8 years he first saw Huntington disease while traveling with his physician father on his professional rounds in 1858].

摘要

我对这件事的记忆无比清晰,就好像它是昨天才发生的一样。它在我少年的心中留下了极为深刻的印象,这也是我最初萌生将舞蹈病作为我对医学知识的首次贡献的冲动。我和父亲开车行驶在一条从东汉普顿通往阿马甘西特的林间道路上,突然遇到了两位女性,母亲和女儿,她们都身材高挑且消瘦,几乎像尸体一样,两人都在鞠躬、扭动身体、做鬼脸。我惊讶地盯着她们,几乎感到恐惧。这意味着什么呢?我父亲停下来和她们交谈,然后我们继续前行。接着,我那如同伽玛列般的教导开始了;我的医学教育由此起步。从那时起,我对这种疾病的兴趣就从未完全停止过。[59岁的乔治·亨廷顿回忆起1858年他8岁时,与身为医生的父亲一起进行职业巡诊时首次见到亨廷顿病的情景]