Tania F Gendron, Kevin F Bieniek, Yong-Jie Zhang, Karen Jansen-West, Peter E A Ash, Thomas Caulfield, Lillian Daughrity, Judith H Dunmore, Monica Castanedes-Casey, Jeannie Chew, Danielle M Cosio, Marka van Blitterswijk, Wing C Lee, Rosa Rademakers, Kevin B Boylan, Dennis W Dickson, Leonard Petrucelli. Acta Neuropathol 2013
Times Cited: 333
Times Cited: 333
Times Cited
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Expanded GGGGCC hexanucleotide repeat in noncoding region of C9ORF72 causes chromosome 9p-linked FTD and ALS.
Mariely DeJesus-Hernandez, Ian R Mackenzie, Bradley F Boeve, Adam L Boxer, Matt Baker, Nicola J Rutherford, Alexandra M Nicholson, NiCole A Finch, Heather Flynn, Jennifer Adamson,[...]. Neuron 2011
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A hexanucleotide repeat expansion in C9ORF72 is the cause of chromosome 9p21-linked ALS-FTD.
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Unconventional translation of C9ORF72 GGGGCC expansion generates insoluble polypeptides specific to c9FTD/ALS.
Peter E A Ash, Kevin F Bieniek, Tania F Gendron, Thomas Caulfield, Wen-Lang Lin, Mariely Dejesus-Hernandez, Marka M van Blitterswijk, Karen Jansen-West, Joseph W Paul, Rosa Rademakers,[...]. Neuron 2013
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RAN proteins and RNA foci from antisense transcripts in C9ORF72 ALS and frontotemporal dementia.
Tao Zu, Yuanjing Liu, Monica Bañez-Coronel, Tammy Reid, Olga Pletnikova, Jada Lewis, Timothy M Miller, Matthew B Harms, Annet E Falchook, S H Subramony,[...]. Proc Natl Acad Sci U S A 2013
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The C9orf72 GGGGCC repeat is translated into aggregating dipeptide-repeat proteins in FTLD/ALS.
Kohji Mori, Shih-Ming Weng, Thomas Arzberger, Stephanie May, Kristin Rentzsch, Elisabeth Kremmer, Bettina Schmid, Hans A Kretzschmar, Marc Cruts, Christine Van Broeckhoven,[...]. Science 2013
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Bidirectional transcripts of the expanded C9orf72 hexanucleotide repeat are translated into aggregating dipeptide repeat proteins.
Kohji Mori, Thomas Arzberger, Friedrich A Grässer, Ilse Gijselinck, Stephanie May, Kristin Rentzsch, Shih-Ming Weng, Martin H Schludi, Julie van der Zee, Marc Cruts,[...]. Acta Neuropathol 2013
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The C9orf72 repeat expansion disrupts nucleocytoplasmic transport.
Ke Zhang, Christopher J Donnelly, Aaron R Haeusler, Jonathan C Grima, James B Machamer, Peter Steinwald, Elizabeth L Daley, Sean J Miller, Kathleen M Cunningham, Svetlana Vidensky,[...]. Nature 2015
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C9orf72 repeat expansions cause neurodegeneration in Drosophila through arginine-rich proteins.
Sarah Mizielinska, Sebastian Grönke, Teresa Niccoli, Charlotte E Ridler, Emma L Clayton, Anny Devoy, Thomas Moens, Frances E Norona, Ione O C Woollacott, Julian Pietrzyk,[...]. Science 2014
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Antisense proline-arginine RAN dipeptides linked to C9ORF72-ALS/FTD form toxic nuclear aggregates that initiate in vitro and in vivo neuronal death.
Xinmei Wen, Wenzhi Tan, Thomas Westergard, Karthik Krishnamurthy, Shashirekha S Markandaiah, Yingxiao Shi, Shaoyu Lin, Neil A Shneider, John Monaghan, Udai B Pandey,[...]. Neuron 2014
Xinmei Wen, Wenzhi Tan, Thomas Westergard, Karthik Krishnamurthy, Shashirekha S Markandaiah, Yingxiao Shi, Shaoyu Lin, Neil A Shneider, John Monaghan, Udai B Pandey,[...]. Neuron 2014
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GGGGCC repeat expansion in C9orf72 compromises nucleocytoplasmic transport.
Brian D Freibaum, Yubing Lu, Rodrigo Lopez-Gonzalez, Nam Chul Kim, Sandra Almeida, Kyung-Ha Lee, Nisha Badders, Marc Valentine, Bruce L Miller, Philip C Wong,[...]. Nature 2015
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Ubiquitinated TDP-43 in frontotemporal lobar degeneration and amyotrophic lateral sclerosis.
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Poly-dipeptides encoded by the C9orf72 repeats bind nucleoli, impede RNA biogenesis, and kill cells.
Ilmin Kwon, Siheng Xiang, Masato Kato, Leeju Wu, Pano Theodoropoulos, Tao Wang, Jiwoong Kim, Jonghyun Yun, Yang Xie, Steven L McKnight. Science 2014
Ilmin Kwon, Siheng Xiang, Masato Kato, Leeju Wu, Pano Theodoropoulos, Tao Wang, Jiwoong Kim, Jonghyun Yun, Yang Xie, Steven L McKnight. Science 2014
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RNA toxicity from the ALS/FTD C9ORF72 expansion is mitigated by antisense intervention.
Christopher J Donnelly, Ping-Wu Zhang, Jacqueline T Pham, Aaron R Haeusler, Nipun A Mistry, Svetlana Vidensky, Elizabeth L Daley, Erin M Poth, Benjamin Hoover, Daniel M Fines,[...]. Neuron 2013
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C9orf72 nucleotide repeat structures initiate molecular cascades of disease.
Aaron R Haeusler, Christopher J Donnelly, Goran Periz, Eric A J Simko, Patrick G Shaw, Min-Sik Kim, Nicholas J Maragakis, Juan C Troncoso, Akhilesh Pandey, Rita Sattler,[...]. Nature 2014
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Targeted degradation of sense and antisense C9orf72 RNA foci as therapy for ALS and frontotemporal degeneration.
Clotilde Lagier-Tourenne, Michael Baughn, Frank Rigo, Shuying Sun, Patrick Liu, Hai-Ri Li, Jie Jiang, Andrew T Watt, Seung Chun, Melanie Katz,[...]. Proc Natl Acad Sci U S A 2013
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C9orf72 Dipeptide Repeats Impair the Assembly, Dynamics, and Function of Membrane-Less Organelles.
Kyung-Ha Lee, Peipei Zhang, Hong Joo Kim, Diana M Mitrea, Mohona Sarkar, Brian D Freibaum, Jaclyn Cika, Maura Coughlin, James Messing, Amandine Molliex,[...]. Cell 2016
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C9orf72 frontotemporal lobar degeneration is characterised by frequent neuronal sense and antisense RNA foci.
Sarah Mizielinska, Tammaryn Lashley, Frances E Norona, Emma L Clayton, Charlotte E Ridler, Pietro Fratta, Adrian M Isaacs. Acta Neuropathol 2013
Sarah Mizielinska, Tammaryn Lashley, Frances E Norona, Emma L Clayton, Charlotte E Ridler, Pietro Fratta, Adrian M Isaacs. Acta Neuropathol 2013
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Poly(GR) impairs protein translation and stress granule dynamics in C9orf72-associated frontotemporal dementia and amyotrophic lateral sclerosis.
Yong-Jie Zhang, Tania F Gendron, Mark T W Ebbert, Aliesha D O'Raw, Mei Yue, Karen Jansen-West, Xu Zhang, Mercedes Prudencio, Jeannie Chew, Casey N Cook,[...]. Nat Med 2018
Yong-Jie Zhang, Tania F Gendron, Mark T W Ebbert, Aliesha D O'Raw, Mei Yue, Karen Jansen-West, Xu Zhang, Mercedes Prudencio, Jeannie Chew, Casey N Cook,[...]. Nat Med 2018
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Modifiers of C9orf72 dipeptide repeat toxicity connect nucleocytoplasmic transport defects to FTD/ALS.
Ana Jovičić, Jerome Mertens, Steven Boeynaems, Elke Bogaert, Noori Chai, Shizuka B Yamada, Joseph W Paul, Shuying Sun, Joseph R Herdy, Gregor Bieri,[...]. Nat Neurosci 2015
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Gain of Toxicity from ALS/FTD-Linked Repeat Expansions in C9ORF72 Is Alleviated by Antisense Oligonucleotides Targeting GGGGCC-Containing RNAs.
Jie Jiang, Qiang Zhu, Tania F Gendron, Shahram Saberi, Melissa McAlonis-Downes, Amanda Seelman, Jennifer E Stauffer, Paymaan Jafar-Nejad, Kevin Drenner, Derek Schulte,[...]. Neuron 2016
Jie Jiang, Qiang Zhu, Tania F Gendron, Shahram Saberi, Melissa McAlonis-Downes, Amanda Seelman, Jennifer E Stauffer, Paymaan Jafar-Nejad, Kevin Drenner, Derek Schulte,[...]. Neuron 2016
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Haploinsufficiency leads to neurodegeneration in C9ORF72 ALS/FTD human induced motor neurons.
Yingxiao Shi, Shaoyu Lin, Kim A Staats, Yichen Li, Wen-Hsuan Chang, Shu-Ting Hung, Eric Hendricks, Gabriel R Linares, Yaoming Wang, Esther Y Son,[...]. Nat Med 2018
Yingxiao Shi, Shaoyu Lin, Kim A Staats, Yichen Li, Wen-Hsuan Chang, Shu-Ting Hung, Eric Hendricks, Gabriel R Linares, Yaoming Wang, Esther Y Son,[...]. Nat Med 2018
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Targeting RNA foci in iPSC-derived motor neurons from ALS patients with a C9ORF72 repeat expansion.
Dhruv Sareen, Jacqueline G O'Rourke, Pratap Meera, A K M G Muhammad, Sharday Grant, Megan Simpkinson, Shaughn Bell, Sharon Carmona, Loren Ornelas, Anais Sahabian,[...]. Sci Transl Med 2013
Dhruv Sareen, Jacqueline G O'Rourke, Pratap Meera, A K M G Muhammad, Sharday Grant, Megan Simpkinson, Shaughn Bell, Sharon Carmona, Loren Ornelas, Anais Sahabian,[...]. Sci Transl Med 2013
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Hexanucleotide repeats in ALS/FTD form length-dependent RNA foci, sequester RNA binding proteins, and are neurotoxic.
Youn-Bok Lee, Han-Jou Chen, João N Peres, Jorge Gomez-Deza, Jan Attig, Maja Stalekar, Claire Troakes, Agnes L Nishimura, Emma L Scotter, Caroline Vance,[...]. Cell Rep 2013
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The Role of Dipeptide Repeats in C9ORF72-Related ALS-FTD.
Brian D Freibaum, J Paul Taylor. Front Mol Neurosci 2017
Brian D Freibaum, J Paul Taylor. Front Mol Neurosci 2017
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Neurodegeneration. C9ORF72 repeat expansions in mice cause TDP-43 pathology, neuronal loss, and behavioral deficits.
Jeannie Chew, Tania F Gendron, Mercedes Prudencio, Hiroki Sasaguri, Yong-Jie Zhang, Monica Castanedes-Casey, Chris W Lee, Karen Jansen-West, Aishe Kurti, Melissa E Murray,[...]. Science 2015
Jeannie Chew, Tania F Gendron, Mercedes Prudencio, Hiroki Sasaguri, Yong-Jie Zhang, Monica Castanedes-Casey, Chris W Lee, Karen Jansen-West, Aishe Kurti, Melissa E Murray,[...]. Science 2015
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Non-ATG-initiated translation directed by microsatellite expansions.
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C9orf72-mediated ALS and FTD: multiple pathways to disease.
Rubika Balendra, Adrian M Isaacs. Nat Rev Neurol 2018
Rubika Balendra, Adrian M Isaacs. Nat Rev Neurol 2018
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Loss of C9ORF72 impairs autophagy and synergizes with polyQ Ataxin-2 to induce motor neuron dysfunction and cell death.
Chantal Sellier, Maria-Letizia Campanari, Camille Julie Corbier, Angeline Gaucherot, Isabelle Kolb-Cheynel, Mustapha Oulad-Abdelghani, Frank Ruffenach, Adeline Page, Sorana Ciura, Edor Kabashi,[...]. EMBO J 2016
Chantal Sellier, Maria-Letizia Campanari, Camille Julie Corbier, Angeline Gaucherot, Isabelle Kolb-Cheynel, Mustapha Oulad-Abdelghani, Frank Ruffenach, Adeline Page, Sorana Ciura, Edor Kabashi,[...]. EMBO J 2016
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Nucleolar stress and impaired stress granule formation contribute to C9orf72 RAN translation-induced cytotoxicity.
Zhouteng Tao, Hongfeng Wang, Qin Xia, Ke Li, Kai Li, Xiaogang Jiang, Guoqiang Xu, Guanghui Wang, Zheng Ying. Hum Mol Genet 2015
Zhouteng Tao, Hongfeng Wang, Qin Xia, Ke Li, Kai Li, Xiaogang Jiang, Guoqiang Xu, Guanghui Wang, Zheng Ying. Hum Mol Genet 2015
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C9orf72 is required for proper macrophage and microglial function in mice.
J G O'Rourke, L Bogdanik, A Yáñez, D Lall, A J Wolf, A K M G Muhammad, R Ho, S Carmona, J P Vit, J Zarrow,[...]. Science 2016
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Heterochromatin anomalies and double-stranded RNA accumulation underlie C9orf72 poly(PR) toxicity.
Yong-Jie Zhang, Lin Guo, Patrick K Gonzales, Tania F Gendron, Yanwei Wu, Karen Jansen-West, Aliesha D O'Raw, Sarah R Pickles, Mercedes Prudencio, Yari Carlomagno,[...]. Science 2019
Yong-Jie Zhang, Lin Guo, Patrick K Gonzales, Tania F Gendron, Yanwei Wu, Karen Jansen-West, Aliesha D O'Raw, Sarah R Pickles, Mercedes Prudencio, Yari Carlomagno,[...]. Science 2019
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Quantitative analysis and clinico-pathological correlations of different dipeptide repeat protein pathologies in C9ORF72 mutation carriers.
Ian R A Mackenzie, Petra Frick, Friedrich A Grässer, Tania F Gendron, Leonard Petrucelli, Neil R Cashman, Dieter Edbauer, Elisabeth Kremmer, Johannes Prudlo, Dirk Troost,[...]. Acta Neuropathol 2015
Ian R A Mackenzie, Petra Frick, Friedrich A Grässer, Tania F Gendron, Leonard Petrucelli, Neil R Cashman, Dieter Edbauer, Elisabeth Kremmer, Johannes Prudlo, Dirk Troost,[...]. Acta Neuropathol 2015
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Drosophila screen connects nuclear transport genes to DPR pathology in c9ALS/FTD.
Steven Boeynaems, Elke Bogaert, Emiel Michiels, Ilse Gijselinck, Anne Sieben, Ana Jovičić, Greet De Baets, Wendy Scheveneels, Jolien Steyaert, Ivy Cuijt,[...]. Sci Rep 2016
Steven Boeynaems, Elke Bogaert, Emiel Michiels, Ilse Gijselinck, Anne Sieben, Ana Jovičić, Greet De Baets, Wendy Scheveneels, Jolien Steyaert, Ivy Cuijt,[...]. Sci Rep 2016
26
Phase Separation of C9orf72 Dipeptide Repeats Perturbs Stress Granule Dynamics.
Steven Boeynaems, Elke Bogaert, Denes Kovacs, Albert Konijnenberg, Evy Timmerman, Alex Volkov, Mainak Guharoy, Mathias De Decker, Tom Jaspers, Veronica H Ryan,[...]. Mol Cell 2017
Steven Boeynaems, Elke Bogaert, Denes Kovacs, Albert Konijnenberg, Evy Timmerman, Alex Volkov, Mainak Guharoy, Mathias De Decker, Tom Jaspers, Veronica H Ryan,[...]. Mol Cell 2017
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Distribution of dipeptide repeat proteins in cellular models and C9orf72 mutation cases suggests link to transcriptional silencing.
Martin H Schludi, Stephanie May, Friedrich A Grässer, Kristin Rentzsch, Elisabeth Kremmer, Clemens Küpper, Thomas Klopstock, Thomas Arzberger, Dieter Edbauer. Acta Neuropathol 2015
Martin H Schludi, Stephanie May, Friedrich A Grässer, Kristin Rentzsch, Elisabeth Kremmer, Clemens Küpper, Thomas Klopstock, Thomas Arzberger, Dieter Edbauer. Acta Neuropathol 2015
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Sense-encoded poly-GR dipeptide repeat proteins correlate to neurodegeneration and uniquely co-localize with TDP-43 in dendrites of repeat-expanded C9orf72 amyotrophic lateral sclerosis.
Shahram Saberi, Jennifer E Stauffer, Jie Jiang, Sandra Diaz Garcia, Amy E Taylor, Derek Schulte, Takuya Ohkubo, Cheyenne L Schloffman, Marcus Maldonado, Michael Baughn,[...]. Acta Neuropathol 2018
Shahram Saberi, Jennifer E Stauffer, Jie Jiang, Sandra Diaz Garcia, Amy E Taylor, Derek Schulte, Takuya Ohkubo, Cheyenne L Schloffman, Marcus Maldonado, Michael Baughn,[...]. Acta Neuropathol 2018
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Dipeptide repeat protein pathology in C9ORF72 mutation cases: clinico-pathological correlations.
Ian R Mackenzie, Thomas Arzberger, Elisabeth Kremmer, Dirk Troost, Stefan Lorenzl, Kohji Mori, Shih-Ming Weng, Christian Haass, Hans A Kretzschmar, Dieter Edbauer,[...]. Acta Neuropathol 2013
Ian R Mackenzie, Thomas Arzberger, Elisabeth Kremmer, Dirk Troost, Stefan Lorenzl, Kohji Mori, Shih-Ming Weng, Christian Haass, Hans A Kretzschmar, Dieter Edbauer,[...]. Acta Neuropathol 2013
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C9orf72 FTLD/ALS-associated Gly-Ala dipeptide repeat proteins cause neuronal toxicity and Unc119 sequestration.
Stephanie May, Daniel Hornburg, Martin H Schludi, Thomas Arzberger, Kristin Rentzsch, Benjamin M Schwenk, Friedrich A Grässer, Kohji Mori, Elisabeth Kremmer, Julia Banzhaf-Strathmann,[...]. Acta Neuropathol 2014
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C9ORF72 poly(GA) aggregates sequester and impair HR23 and nucleocytoplasmic transport proteins.
Yong-Jie Zhang, Tania F Gendron, Jonathan C Grima, Hiroki Sasaguri, Karen Jansen-West, Ya-Fei Xu, Rebecca B Katzman, Jennifer Gass, Melissa E Murray, Mitsuru Shinohara,[...]. Nat Neurosci 2016
Yong-Jie Zhang, Tania F Gendron, Jonathan C Grima, Hiroki Sasaguri, Karen Jansen-West, Ya-Fei Xu, Rebecca B Katzman, Jennifer Gass, Melissa E Murray, Mitsuru Shinohara,[...]. Nat Neurosci 2016
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Sequestration of multiple RNA recognition motif-containing proteins by C9orf72 repeat expansions.
Johnathan Cooper-Knock, Matthew J Walsh, Adrian Higginbottom, J Robin Highley, Mark J Dickman, Dieter Edbauer, Paul G Ince, Stephen B Wharton, Stuart A Wilson, Janine Kirby,[...]. Brain 2014
Johnathan Cooper-Knock, Matthew J Walsh, Adrian Higginbottom, J Robin Highley, Mark J Dickman, Dieter Edbauer, Paul G Ince, Stephen B Wharton, Stuart A Wilson, Janine Kirby,[...]. Brain 2014
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Loss of function of C9orf72 causes motor deficits in a zebrafish model of amyotrophic lateral sclerosis.
Sorana Ciura, Serena Lattante, Isabelle Le Ber, Morwena Latouche, Hervé Tostivint, Alexis Brice, Edor Kabashi. Ann Neurol 2013
Sorana Ciura, Serena Lattante, Isabelle Le Ber, Morwena Latouche, Hervé Tostivint, Alexis Brice, Edor Kabashi. Ann Neurol 2013
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A C9orf72 promoter repeat expansion in a Flanders-Belgian cohort with disorders of the frontotemporal lobar degeneration-amyotrophic lateral sclerosis spectrum: a gene identification study.
Ilse Gijselinck, Tim Van Langenhove, Julie van der Zee, Kristel Sleegers, Stéphanie Philtjens, Gernot Kleinberger, Jonathan Janssens, Karolien Bettens, Caroline Van Cauwenberghe, Sandra Pereson,[...]. Lancet Neurol 2012
Ilse Gijselinck, Tim Van Langenhove, Julie van der Zee, Kristel Sleegers, Stéphanie Philtjens, Gernot Kleinberger, Jonathan Janssens, Karolien Bettens, Caroline Van Cauwenberghe, Sandra Pereson,[...]. Lancet Neurol 2012
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Reduced C9orf72 protein levels in frontal cortex of amyotrophic lateral sclerosis and frontotemporal degeneration brain with the C9ORF72 hexanucleotide repeat expansion.
Adrian J Waite, Dirk Bäumer, Simon East, James Neal, Huw R Morris, Olaf Ansorge, Derek J Blake. Neurobiol Aging 2014
Adrian J Waite, Dirk Bäumer, Simon East, James Neal, Huw R Morris, Olaf Ansorge, Derek J Blake. Neurobiol Aging 2014
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Aggregation-prone c9FTD/ALS poly(GA) RAN-translated proteins cause neurotoxicity by inducing ER stress.
Yong-Jie Zhang, Karen Jansen-West, Ya-Fei Xu, Tania F Gendron, Kevin F Bieniek, Wen-Lang Lin, Hiroki Sasaguri, Thomas Caulfield, Jaime Hubbard, Lillian Daughrity,[...]. Acta Neuropathol 2014
Yong-Jie Zhang, Karen Jansen-West, Ya-Fei Xu, Tania F Gendron, Kevin F Bieniek, Wen-Lang Lin, Hiroki Sasaguri, Thomas Caulfield, Jaime Hubbard, Lillian Daughrity,[...]. Acta Neuropathol 2014
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C9orf72 BAC Mouse Model with Motor Deficits and Neurodegenerative Features of ALS/FTD.
Yuanjing Liu, Amrutha Pattamatta, Tao Zu, Tammy Reid, Olgert Bardhi, David R Borchelt, Anthony T Yachnis, Laura P W Ranum. Neuron 2016
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Frequency of the C9orf72 hexanucleotide repeat expansion in patients with amyotrophic lateral sclerosis and frontotemporal dementia: a cross-sectional study.
Elisa Majounie, Alan E Renton, Kin Mok, Elise G P Dopper, Adrian Waite, Sara Rollinson, Adriano Chiò, Gabriella Restagno, Nayia Nicolaou, Javier Simon-Sanchez,[...]. Lancet Neurol 2012
Elisa Majounie, Alan E Renton, Kin Mok, Elise G P Dopper, Adrian Waite, Sara Rollinson, Adriano Chiò, Gabriella Restagno, Nayia Nicolaou, Javier Simon-Sanchez,[...]. Lancet Neurol 2012
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The disease-associated r(GGGGCC)n repeat from the C9orf72 gene forms tract length-dependent uni- and multimolecular RNA G-quadruplex structures.
Kaalak Reddy, Bita Zamiri, Sabrina Y R Stanley, Robert B Macgregor, Christopher E Pearson. J Biol Chem 2013
Kaalak Reddy, Bita Zamiri, Sabrina Y R Stanley, Robert B Macgregor, Christopher E Pearson. J Biol Chem 2013
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The ALS/FTLD associated protein C9orf72 associates with SMCR8 and WDR41 to regulate the autophagy-lysosome pathway.
Peter M Sullivan, Xiaolai Zhou, Adam M Robins, Daniel H Paushter, Dongsung Kim, Marcus B Smolka, Fenghua Hu. Acta Neuropathol Commun 2016
Peter M Sullivan, Xiaolai Zhou, Adam M Robins, Daniel H Paushter, Dongsung Kim, Marcus B Smolka, Fenghua Hu. Acta Neuropathol Commun 2016
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Converging mechanisms in ALS and FTD: disrupted RNA and protein homeostasis.
Shuo-Chien Ling, Magdalini Polymenidou, Don W Cleveland. Neuron 2013
Shuo-Chien Ling, Magdalini Polymenidou, Don W Cleveland. Neuron 2013
22
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