Reply: Two heterozygous progranulin mutations in progressive supranuclear palsy. - Suppr | 超能文献

Reply: Two heterozygous progranulin mutations in progressive supranuclear palsy.

作者信息

Huin Vincent, Barbier Mathieu, Durr Alexandra, Le Ber Isabelle

机构信息

Sorbonne Université, Paris Brain Institute, APHP, INSERM, CNRS, Paris, France.

Univ. Lille, Inserm, CHU Lille, U1172-LilNCog (JPARC)-Lille Neuroscience and Cognition, F-59000 Lille, France.

出版信息

Brain. 2021 Apr 12;144(3):e28. doi: 10.1093/brain/awaa456.

DOI:10.1093/brain/awaa456

Abstract

摘要

文献检索

告别复杂PubMed语法，用中文像聊天一样搜索，搜遍4000万医学文献。AI智能推荐，让科研检索更轻松。

立即免费搜索

文件翻译

保留排版，准确专业，支持PDF/Word/PPT等文件格式，支持 12+语言互译。

免费翻译文档

深度研究

AI帮你快速写综述，25分钟生成高质量综述，智能提取关键信息，辅助科研写作。

立即免费体验

相似文献

1

Reply: Two heterozygous progranulin mutations in progressive supranuclear palsy.

Brain. 2021 Apr 12;144(3):e28. doi: 10.1093/brain/awaa456.

2

Two heterozygous progranulin mutations in progressive supranuclear palsy.进行性核上性麻痹中的两个杂合原颗粒蛋白突变。

Brain. 2021 Apr 12;144(3):e27. doi: 10.1093/brain/awaa428.

3

Plasma Screening for Progranulin Mutations in Patients with Progressive Supranuclear Palsy and Corticobasal Syndromes.对进行性核上性麻痹和皮质基底节综合征患者进行颗粒蛋白前体突变的血浆筛查。

J Alzheimers Dis. 2016 May 4;53(2):445-9. doi: 10.3233/JAD-160073.

4

Progressive supranuclear palsy-like phenotype caused by progranulin p.Thr272fs mutation.

Mov Disord. 2011 Aug 15;26(10):1964-6. doi: 10.1002/mds.23749. Epub 2011 May 3.

5

Prevalence of heterozygous mutations in Niemann-Pick type C genes in a cohort of progressive supranuclear palsy.进行性核上性麻痹队列中尼曼-匹克C型基因杂合突变的患病率

Parkinsonism Relat Disord. 2020 Oct;79:9-10. doi: 10.1016/j.parkreldis.2020.08.013. Epub 2020 Aug 18.

6

An R5L tau mutation in a subject with a progressive supranuclear palsy phenotype.一名具有进行性核上性麻痹表型的受试者中存在R5L tau突变。

Ann Neurol. 2002 Oct;52(4):511-6. doi: 10.1002/ana.10340.

7

Clinical and Molecular Characterization of a Novel Progranulin Deletion Associated with Different Phenotypes.新型颗粒蛋白聚糖缺失与不同表型相关的临床和分子特征。

J Alzheimers Dis. 2020;76(1):341-347. doi: 10.3233/JAD-200151.

8

"Atypical" atypical parkinsonism: new genetic conditions presenting with features of progressive supranuclear palsy, corticobasal degeneration, or multiple system atrophy-a diagnostic guide."非典型" 帕金森综合征：具有进行性核上性麻痹、皮质基底节变性或多系统萎缩特征的新的遗传疾病——诊断指南。

Mov Disord. 2013 Aug;28(9):1184-99. doi: 10.1002/mds.25509. Epub 2013 May 29.

9

Reply: Predicted pathogenic missense mutation of PGRN found in a normal control.回复：在一名正常对照中发现了预测的PGRN致病性错义突变。

Ann Neurol. 2010 Jul;68(1):119. doi: 10.1002/ana.22056.

10

Familial atypical progressive supranuclear palsy associated with homozigosity for the delN296 mutation in the tau gene.家族性非典型进行性核上性麻痹与tau基因delN296突变纯合性相关。

Ann Neurol. 2001 Feb;49(2):263-7. doi: 10.1002/1531-8249(20010201)49:2<263::aid-ana50>3.0.co;2-k.

引用本文的文献

1

Screening for RFC-1 pathological expansion in late-onset ataxias: a contribution to the differential diagnosis.筛查迟发性共济失调中 RFC-1 病理性扩张：对鉴别诊断的贡献。

J Neurol. 2022 Oct;269(10):5431-5435. doi: 10.1007/s00415-022-11192-x. Epub 2022 May 28.

2

Association between inflammatory central nervous system lesions and Cerebellar Ataxia, Neuropathy and Vestibular Areflexia Syndrome (CANVAS): a case series.

J Neurol. 2022 Oct;269(10):5668-5673. doi: 10.1007/s00415-022-11184-x. Epub 2022 May 19.