搜索页_+C9ORF72+hexanucleotide+repeat+expansion

常用资源

电子图书

期刊论文

学位会议

外文资源

特色专题

内部出版物

Wiley电子期刊(4)	SpringerLink电子期刊(49)	Elsevier电子期刊(75)
Springer电子图书(3)	NATURE电子期刊(6)

在“Elsevier电子期刊”中，命中：75条，耗时：小于0.01 秒

在所有数据库中总计命中：137条

1.Pathogenic determinants and mechanisms of ALS/FTD linked to hexanucleotide repeat expansions in the C9orf72 gene

作者：Xinmei Wen ; ^{Xinmei.Wen@jefferson.edu} ; ^{Xinmei.Wen@icloud.com} ; Thomas Westergard ; Piera Pasinelli ; Davide Trotti

关键词：C9orf72 ; ALS ; FTD ; Repeat expansion disease ; RNA foci ; Dipeptide repeat protein

刊名：Neuroscience Letters

出版年：2017

2.Analysis of C9orf72 repeat expansion in amyotrophic lateral sclerosis patients from North India

作者：Abhishek Vats^a ; ^b ; Mandaville Gourie-Devi^c ; ^d ; ; Varun Suroliya^e ; Sagar Verma^a ; Mohammad Faruq^e ; Ankkita Sharma^c ; Nirmal Kumar Ganguly^a ; Ritushree Kukreti^e ; Saima Wajid^b ; Vibha Taneja^a ; ^{vibha.taneja@sgrh.com}

关键词：C9orf72 ; Hexanucleotide repeat expansion ; Amyotrophic lateral sclerosis ; India

刊名：Journal of the Neurological Sciences

出版年：2017

3.ATNX2 is not a regulatory gene in Italian amyotrophic lateral sclerosis patients with C9ORF72 GGGGCC expansion

作者：Adriano Chiò ; ^a ; ^b ; ^{achio@usa.net" class="auth_mail" title="E-mail the corresponding author} ; Gabriele Mora^c ; Mario Sabatelli^d ; Claudia Caponnetto^e ; Christian Lunetta^f ; Bryan J. Traynor^g ; Janel O. Johnson^g ; ^h ; Mike A. Nallsⁱ ; Andrea Calvo^a ; ^b ; Cristina Moglia^a ; Giuseppe Borghero^j ; Francesca Trojsi^k ; Vincenzo La Bella^l ; Paolo Volanti^m ; Isabella Simoneⁿ ; Fabrizio Salvi^o ; Francesco O. Logullo^p ; Nilo Riva^q ; Paola Carrera^r ; Fabio Giannini^s ; Jessica Mandrioli^t ; Raffaella Tanel^u ; Margherita Capasso^v ; Lucio Tremolizzo^w ; Stefania Battistini^s ; Maria Rita Murru^x ; Paola Origone^e ; Marcella Zollino^y ; Silvana Penco^z ; ITALSGEN consortium¹

关键词：Amyotrophic lateral sclerosis ; Phenotype ; ATXN2 ; C9ORF72

刊名：Neurobiology of Aging

出版年：2016

4.Identification of a novel loss-of-function C9orf72 splice site mutation in a patient with amyotrophic lateral sclerosis

作者：Fang Liu^a ; ^b ; ¹ ; Qing Liu^b ; ^c ; ¹ ; Chao Xia Lu^a ; ^b ; Bo Cui^b ; ^c ; Xia Nan Guo^a ; ^b ; Rong Rong Wang^a ; ^b ; Ming Sheng Liu^b ; ^c ; Xiao Guang Li^b ; ^c ; Li-ying Cui^b ; ^c ; Xue Zhang^a ; ^b ; ^c ; ^{xuezhang@pumc.edu.cn" class="auth_mail" title="E-mail the corresponding author}

关键词：Amyotrophic lateral sclerosis ; C9orf72 ; GGGGCC hexanucleotide repeat expansion ; Splice site mutation ; Loss-of-function

刊名：Neurobiology of Aging

出版年：2016

5.Characterization of an FTLD-PDB family with the coexistence of SQSTM1 mutation and hexanucleotide (G₄C₂) repeat expansion in C9orf72 gene

作者：Maria Rosá ; rio Almeida^a ; ^{mralmeida2008@gmail.com" class="auth_mail" title="E-mail the corresponding author} ; Liliana Letra^b ; Paula Pires^c ; Ana Santos^a ; Olinda Rebelo^d ; Rita Guerreiro^e ; Julie van der Zee^f ; ^g ; Christine Van Broeckhoven^f ; ^g ; Isabel Santana^a ; ^b

关键词：Frontotemporal dementia ; Paget disease of bone ; C9orf72 ; SQSTM1

刊名：Neurobiology of Aging

出版年：2016

6.C9ORF72 repeat expansion is not detected in sporadic ataxia patients in mainland China

作者：Miao He^a ; Wei-Qian Yan^a ; Sheng Zeng^a ; Zhen Liu^a ; Yao Zhou^a ; Xian-Feng Zeng^a ; Jun-Sheng Zeng^a ; Hong Jiang^a ; ^b ; ^c ; Lu Shen^a ; ^b ; ^c ; Bei-Sha Tang^a ; ^b ; ^c ; Jun-Ling Wang^a ; ^b ; ^c ; ^{wjling8002@126.com" class="auth_mail" title="E-mail the corresponding author}

关键词：Spinocerebellar ataxia ; C9ORF72 ; Amyotrophic lateral sclerosis ; Frontotemporal dementia ; Sporadic ataxia ; Cerebellum

刊名：Journal of the Neurological Sciences

出版年：2016

7.C9orf72 promoter hypermethylation is reduced while hydroxymethylation is acquired during reprogramming of ALS patient cells

作者：Rustam Esanov^a ; ^f ; Kinsley C. Belle^b ; ^g ; Marka van Blitterswijk^c ; Veronique V. Belzil^c ; Rosa Rademakers^c ; Dennis W. Dickson^c ; Leonard Petrucelli^c ; Kevin B. Boylan^d ; Derek M. Dykxhoorn^b ; ^g ; Joanne Wuu^e ; Michael Benatar^e ; Claes Wahlestedt^a ; ^f ; Zane Zeier^a ; ^f ; ^{zzeier@med.miami.edu" class="auth_mail" title="E-mail the corresponding author}

关键词：C9orf72 ; Amyotrophic lateral sclerosis ; Repeat expansion ; Cytosine hydroxymethylation

刊名：Experimental Neurology

出版年：2016

8.Large C9orf72 repeat expansions are seen in Chinese patients with sporadic amyotrophic lateral sclerosis

作者：Yongping Chen¹ ; Ziqiang Lin¹ ; Xueping Chen¹ ; Bei Cao ; Qianqian Wei ; Ruwei Ou ; Bi Zhao ; Wei Song ; Ying Wu ; Hui-Fang Shang ; ^{hfshang2002@163.com" class="auth_mail" title="E-mail the corresponding author}

关键词：C9orf72 ; Amyotrophic lateral sclerosis ; Haplotype analysis ; Southern blotting ; Cognitive impairment ; Meta-analysis ; Chinese population

刊名：Neurobiology of Aging

出版年：2016

9.Improved PCR based methods for detecting C9orf72 hexanucleotide repeat expansions

作者：Elaine M. Cleary^a ; ^b ; ^{eme22@cantab.net" class="auth_mail" title="E-mail the corresponding author} ; Suvankar Pal^b ; ^c ; Tara Azam^a ; David J. Moore^a ; Robert Swingler^b ; George Gorrie^b ; Laura Stephenson^b ; ^c ; Shuna Colville^b ; ^c ; Siddharthan Chandran^b ; ^c ; Mary Porteous^a ; ^b ; Jon P. Warner^a

关键词：C9orf72 ; Repeat-primed PCR ; Amyotrophic lateral sclerosis ; Genetic testing

刊名：Molecular and Cellular Probes

出版年：2016

10.C9orf72 isoforms in Amyotrophic Lateral Sclerosis and Frontotemporal Lobar Degeneration

作者：Shangxi Xiao^a ; Laura MacNair^a ; ^b ; Jesse McLean^a ; Phillip McGoldrick^a ; Paul McKeever^a ; ^b ; Serena Soleimani^a ; Julia Keith^c ; Lorne Zinman^c ; Ekaterina Rogaeva^a ; Janice Robertson^a ; ^b ; ^{jan.robertson@utoronto.ca" class="auth_mail" title="E-mail the corresponding author}

关键词：HRE ; hexanucleotide repeat expansions ; DPR ; dipeptide repeat protein ; RBP ; RNA Binding Protein

刊名：Brain Research

出版年：2016

按检索点细分(75)

题名(25)

关键词(11)

文摘(64)

按出版年细分(75)

2027年及以后(11)

2017年(2)

2016年(14)

2015年(2)

2014年(3)

2013年(22)

2012年(17)

2011年(2)

2000年及以前(2)

地址：北京市海淀区学院路29号邮编：100083

电话：办公室：(+86 10)66554848；文献借阅、咨询服务、科技查新：66554700