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CNKI学位论文(222)

知网期刊论文(55)

在“Elsevier电子期刊”中，命中：37条，耗时：0.0679562 秒

在所有数据库中总计命中：277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.C9ORF72 and UBQLN2 mutations are causes of amyotrophic lateral sclerosis in New Zealand: a genetic and pathologic study using banked human brain tissue

作者：Emma L. Scotter^a ; ^b ; ^{emma.scotter@auckland.ac.nz} ; Leon Smyth^a ; ^b ; James W.T. Bailey^c ; Chun-Hao Wong^c ; Martina de Majo^c ; Caroline A. Vance^c ; Beth J. Synek^d ; Clinton Turner^d ; Jennifer Pereira^a ; ^e ; Alison Charleston^e ; Henry J. Waldvogel^a ; ^f ; Maurice A. Curtis^a ; ^f ; Mike Dragunow^a ; ^b ; Christopher E. Shaw^c ; Bradley N. Smith^c ; Richard L.M. Faull^a ; ^f

关键词：Motor neurone disease ; Amyotrophic lateral sclerosis ; TARDBP ; Brain bank ; C9ORF72 ; Ubiquilin

刊名：Neurobiology of Aging

出版年：2017

3.Methylation of C9orf72 expansion reduces RNA foci formation and dipeptide-repeat proteins expression in cells

作者：Peter O. Bauer ; ^{Bauer.Peter@mayo.edu" class="auth_mail" title="E-mail the corresponding author}

关键词：FTD ; frontotemporal dementia ; ALS ; amyotrophic lateral sclerosis ; C9orf72 ; chromosome 9 open reading frame 72 ; c9FTD/ALS ; FTD/ALS caused by expansion in C9orf72 gene ; RAN translation ; repeat-associated non-ATG translation ; DPR ; dipeptide-repeat protein ; poly(GP) ; poly-glycine-proline ; MSD ; Meso Scale Discovery ; M ; plasmid with methylated (GGGGCC)66 repeat ; U ; plasmid with unmethylated (GGGGCC)66 repeat ; HEK293T cells ; human embryonic kidney cells ; PBS ; phosphate-buffered saline ; EDTA ; ethylenedi

刊名：Neuroscience Letters

出版年：2016

4.Cell-to-Cell Transmission of Dipeptide Repeat Proteins Linked to C9orf72-ALS/FTD

作者：Thomas Westergard¹ ; Brigid K. Jensen¹ ; Xinmei Wen¹ ; Jingli Cai² ; Elizabeth Kropf² ; Lorraine Iacovitti² ; Piera Pasinelli¹ ; Davide Trotti¹ ; ³ ; ^{davide.trotti@jefferson.edu" class="auth_mail" title="E-mail the corresponding author}

关键词：C9orf72 ; dipeptide repeat proteins ; DPR ; cell-to-cell transmission ; exosomes ; ALS ; FTD ; propagation

刊名：Cell Reports

出版年：2016

5.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

6.Directional Phosphorylation and Nuclear Transport of the Splicing Factor SRSF1 Is Regulated by an RNA Recognition Motif

作者：Pedro Serrano¹ ; ^&dagger ; ; Brandon E. Aubol² ; ^&dagger ; ; Malik M. Keshwani² ; Stefano Forli² ; Chen-Ting Ma² ; Samit K. Dutta¹ ; ⁴ ; Michael Geralt¹ ; Kurt Wü ; thrich¹ ; ³ ; Joseph A. Adams² ; ^{j2adams@ucsd.edu" class="auth_mail" title="E-mail the corresponding author}

关键词：RRM ; RNA recognition motif ; RS domain ; domain rich in arginine&ndash ; serine dipeptide repeats ; SR protein ; splicing factor containing arginine&ndash ; serine dipeptide repeats ; SRPK1 ; serine&ndash ; arginine-specific protein kinase 1 ; SRSF1 ; SR protein splicing factor 1 (aka ASF/SF2) ; NOESY ; NOE spectroscopy ; HSQC ; heteronuclear single quantum coherence

刊名：Journal of Molecular Biology

出版年：2016

7.C9orf72 Dipeptide Repeats Impair the Assembly, Dynamics, and Function of Membrane-Less Organelles

作者：Kyung-Ha Lee¹ ; ⁸ ; ⁹ ; Peipei Zhang¹ ; ⁸ ; Hong Joo Kim¹ ; ⁸ ; Diana M. Mitrea² ; Mohona Sarkar¹ ; Brian D. Freibaum¹ ; Jaclyn Cika² ; Maura Coughlin¹ ; James Messing¹ ; Amandine Molliex¹ ; Brian A. Maxwell¹ ; Nam Chul Kim¹ ; Jamshid Temirov¹ ; Jennifer Moore¹ ; Regina-Maria Kolaitis¹ ; ⁷ ; Timothy I. Shaw³ ; Bing Bai² ; Junmin Peng² ; ⁴ ; ⁵ ; Richard W. Kriwacki² ; ⁶ ; J. Paul Taylor¹ ; ⁷ ; ¹⁰ ; ^{jpaul.taylor@stjude.org" class="auth_mail" title="E-mail the corresponding author}

关键词：phase separation ; membrane-less organelle ; stress granule ; nucleolus ; dipeptide repeat ; C9ORF72 ; amyotrophic lateral sclerosis

刊名：Cell

出版年：2016

8.There has been an awakening: Emerging mechanisms of C9orf72 mutations in FTD/ALS

作者：Aaron D. Gitler^a ; ^{agitler@stanford.edu" class="auth_mail" title="E-mail the corresponding author} ; Hitomi Tsuiji^b ; ^{hitomitsuiji@phar.nagoya-cu.ac.jp" class="auth_mail" title="E-mail the corresponding author}

关键词：ALS ; FTD ; C9orf72 ; RNA ; Dipeptide repeat protein

刊名：Brain Research

出版年：2016

9.Human C9ORF72 Hexanucleotide Expansion Reproduces RNA Foci and Dipeptide Repeat Proteins but Not Neurodegeneration in BAC Transgenic Mice

作者：Owen M. Peters¹ ; ⁸ ; Gabriela Toro Cabrera¹ ; ² ; ⁸ ; Helene Tran¹ ; Tania F. Gendron³ ; Jeanne E. McKeon¹ ; Jake Metterville¹ ; Alexandra Weiss¹ ; Nicholas Wightman¹ ; Johnny Salameh¹ ; Juhyun Kim⁷ ; Huaming Sun² ; Kevin B. Boylan⁴ ; Dennis Dickson³ ; Zachary Kennedy¹ ; Ziqiang Lin¹ ; Yong-Jie Zhang³ ; Lillian Daughrity³ ; Chris Jung⁶ ; Fen-Biao Gao¹ ; Peter C. Sapp¹ ; ⁵ ; H. Robert Horvitz⁵ ; Daryl A. Bosco¹ ; Solange P. Brown⁷ ; Pieter de Jong⁶ ; Leonard Petrucelli³ ; Christian Mueller² ; ^{chris.mueller@umassmed.edu" class="auth_mail" title="E-mail the corresponding author} ; Robert H. Brown Jr.¹ ; ^{robert.brown@umassmed.edu" class="auth_mail" title="E-mail the corresponding author}

关键词：Amyotrophic lateral sclerosis (ALS) ; frontotemporal dementia (FTD) ; C9ORF72 ; transgenic mice ; RNA foci ; RAN translation ; repeat expansions ; neurodegeneration ; microRNA

刊名：Neuron

出版年：2015

10.An amyloid-like cascade hypothesis for C9orf72 ALS/FTD

作者：Dieter Edbauer¹ ; ² ; ³ ; ^{dieter.edbauer@dzne.de" class="auth_mail" title="E-mail the corresponding author} ; Christian Haass¹ ; ² ; ⁴

刊名：Current Opinion in Neurobiology

出版年：2016

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