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1
New Jersey Center for Tourette Syndrome sharing repository: methods and sample description.新泽西抽动秽语综合征共享资源库:方法与样本描述
BMC Med Genomics. 2008 Nov 26;1:58. doi: 10.1186/1755-8794-1-58.
2
Tourette Syndrome and Comorbid Neuropsychiatric Conditions.抽动秽语综合征及共病的神经精神疾病
Curr Dev Disord Rep. 2016;3(4):217-221. doi: 10.1007/s40474-016-0099-1. Epub 2016 Nov 5.
3
Tourette syndrome: the self under siege.妥瑞氏症:被围攻的自我。
J Child Neurol. 2006 Aug;21(8):642-9. doi: 10.1177/08830738060210081001.
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Tourette syndrome. Neuropsychological tests for obsessive-compulsive disorder and attention deficit hyperactivity disorder.抽动秽语综合征。强迫症和注意力缺陷多动障碍的神经心理学测试。
Neurol Clin. 1997 May;15(2):255-65. doi: 10.1016/s0733-8619(05)70310-8.
5
Complex phonic tic and disinhibition in Tourette syndrome: case report.抽动秽语综合征中的复杂发声抽动和去抑制:病例报告。
Arq Neuropsiquiatr. 2001 Sep;59(3-A):587-9. doi: 10.1590/s0004-282x2001000400019.
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Tourette syndrome, co-morbidities and quality of life.抽动秽语综合征、共病与生活质量。
Aust N Z J Psychiatry. 2016 Jan;50(1):82-93. doi: 10.1177/0004867415594429. Epub 2015 Jul 13.
7
Clinical Features of Tourette Syndrome.抽动秽语综合征的临床特征。
J Child Neurol. 2020 Feb;35(2):166-174. doi: 10.1177/0883073819877335. Epub 2019 Oct 14.
8
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[Tics and Gilles de la Tourette syndrome].[抽动症与图雷特综合征]
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引用本文的文献

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Whole-exome sequencing identifies genes associated with Tourette's disorder in multiplex families.外显子组测序鉴定多发性家系中与妥瑞氏症相关的基因。
Mol Psychiatry. 2021 Nov;26(11):6937-6951. doi: 10.1038/s41380-021-01094-1. Epub 2021 Apr 9.
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The PNKD gene is associated with Tourette Disorder or Tic disorder in a multiplex family.PNKD 基因与多发性家族中的抽动秽语综合征或抽动障碍有关。
Mol Psychiatry. 2018 Jun;23(6):1487-1495. doi: 10.1038/mp.2017.179. Epub 2017 Sep 12.
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Investigation of previously implicated genetic variants in chronic tic disorders: a transmission disequilibrium test approach.对先前涉及慢性抽动障碍的遗传变异的研究:传递不平衡测试方法。
Eur Arch Psychiatry Clin Neurosci. 2018 Apr;268(3):301-316. doi: 10.1007/s00406-017-0808-8. Epub 2017 May 29.
4
Functional Evaluations of Genes Disrupted in Patients with Tourette's Disorder.图雷特氏症患者中基因破坏的功能评估。
Front Psychiatry. 2016 Feb 9;7:11. doi: 10.3389/fpsyt.2016.00011. eCollection 2016.
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GDNF gene is associated with tourette syndrome in a family study.在一项家族研究中,胶质细胞源性神经营养因子(GDNF)基因与抽动秽语综合征有关。
Mov Disord. 2015 Jul;30(8):1115-20. doi: 10.1002/mds.26279. Epub 2015 Jun 12.
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Common and rare alleles of the serotonin transporter gene, SLC6A4, associated with Tourette's disorder.与妥瑞氏症相关的血清素转运体基因 SLC6A4 的常见和罕见等位基因。
Mov Disord. 2013 Aug;28(9):1263-70. doi: 10.1002/mds.25460. Epub 2013 Apr 29.
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Rare missense neuronal cadherin gene (CDH2) variants in specific obsessive-compulsive disorder and Tourette disorder phenotypes.特定的强迫症和妥瑞氏症表型中罕见的神经元钙黏蛋白基因(CDH2)错义变异。
Eur J Hum Genet. 2013 Aug;21(8):850-4. doi: 10.1038/ejhg.2012.245. Epub 2013 Jan 16.

本文引用的文献

1
Genome studies: genetics by numbers.基因组研究:数字化遗传学
Nature. 2008 Jan 31;451(7178):516-8. doi: 10.1038/451516a.
2
Multistage sampling for genetic studies.基因研究的多阶段抽样
Annu Rev Genomics Hum Genet. 2007;8:327-42. doi: 10.1146/annurev.genom.8.080706.092357.
3
Genome scan for Tourette disorder in affected-sibling-pair and multigenerational families.对受累同胞对和多代家庭中的抽动秽语综合征进行全基因组扫描。
Am J Hum Genet. 2007 Feb;80(2):265-72. doi: 10.1086/511052.
4
Overrepresentation of rare variants in a specific ethnic group may confuse interpretation of association analyses.特定种族群体中罕见变异的过度存在可能会混淆关联分析的解释。
Hum Mol Genet. 2006 Nov 15;15(22):3324-8. doi: 10.1093/hmg/ddl408. Epub 2006 Oct 11.
5
Genetics and epidemiology of Tourette syndrome.抽动秽语综合征的遗传学与流行病学
J Child Neurol. 2006 Aug;21(8):665-71. doi: 10.1177/08830738060210081101.
6
Co-occurring psychiatric disorders in children and adolescents with Tourette syndrome.患有抽动秽语综合征的儿童和青少年中并存的精神障碍。
J Child Neurol. 2006 Aug;21(8):657-64. doi: 10.1177/08830738060210081301.
7
The role of clinical phenotypes in understanding the genetics of obsessive-compulsive disorder.临床表型在理解强迫症遗传学方面的作用。
J Psychosom Res. 2006 Sep;61(3):359-64. doi: 10.1016/j.jpsychores.2006.07.021.
8
Fine-motor skill deficits in childhood predict adulthood tic severity and global psychosocial functioning in Tourette's syndrome.儿童期精细运动技能缺陷可预测图雷特综合征患者成年后的抽动严重程度及整体心理社会功能。
J Child Psychol Psychiatry. 2006 Jun;47(6):551-9. doi: 10.1111/j.1469-7610.2005.01561.x.
9
Obsessive-compulsive disorder in Tourette syndrome.抽动秽语综合征中的强迫症
Adv Neurol. 2006;99:22-38.
10
Attention deficit hyperactivity disorder: the childhood co-morbidity that most influences the disability burden in Tourette syndrome.注意缺陷多动障碍:对抽动秽语综合征残疾负担影响最大的儿童期共病。
Adv Neurol. 2006;99:17-21.

新泽西抽动秽语综合征共享资源库:方法与样本描述

New Jersey Center for Tourette Syndrome sharing repository: methods and sample description.

作者信息

Heiman Gary A, King Robert A, Tischfield Jay A

机构信息

Department of Genetics, Rutgers University, 145 Bevier Road, Piscataway, NJ 08854, USA.

出版信息

BMC Med Genomics. 2008 Nov 26;1:58. doi: 10.1186/1755-8794-1-58.

DOI:10.1186/1755-8794-1-58
PMID:19036136
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC2605751/
Abstract

BACKGROUND

Tourette Syndrome is a neuropsychiatric disorder characterized by chronic motor and phonic tics. Affected individuals and their family members are at an increased risk for other neuropsychiatric conditions including obsessive-compulsive disorder and attention deficit hyperactivity disorder. While there is consistent evidence that genetic factors play a significant etiologic role, no replicable susceptibility alleles have thus far been identified.

DESCRIPTION

Here we discuss a sharing resource of clinical and genetic data, the New Jersey Center for Tourette Syndrome Sharing Repository, whose goal is to provide clinical data, DNA, and lymphoblastoid cell lines to qualified researchers.

CONCLUSION

Opening access to the data and patient material to the widest possible research community will hasten the identification of causal genetic factors and facilitate better understanding and treatment of this often impairing disorder.

摘要

背景

抽动秽语综合征是一种神经精神障碍,其特征为慢性运动性和发声性抽动。受影响的个体及其家庭成员患其他神经精神疾病的风险增加,包括强迫症和注意力缺陷多动障碍。虽然有一致的证据表明遗传因素在病因学中起重要作用,但迄今为止尚未鉴定出可重复的易感等位基因。

描述

在此,我们讨论一个临床和遗传数据共享资源,即新泽西抽动秽语综合征共享库,其目标是向合格的研究人员提供临床数据、DNA和淋巴母细胞系。

结论

向尽可能广泛的研究群体开放数据和患者材料的获取将加速因果遗传因素的鉴定,并有助于更好地理解和治疗这种常常造成损害的疾病。