Elaine Y Liu, Jenny Russ, Edward B Lee. Free Neuropathol 2020
Times Cited: 1
Times Cited: 1
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C9orf72 binds SMCR8, localizes to lysosomes, and regulates mTORC1 signaling.
Joseph Amick, Agnes Roczniak-Ferguson, Shawn M Ferguson. Mol Biol Cell 2016
Joseph Amick, Agnes Roczniak-Ferguson, Shawn M Ferguson. Mol Biol Cell 2016
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DENN domain proteins: regulators of Rab GTPases.
Andrea L Marat, Hatem Dokainish, Peter S McPherson. J Biol Chem 2011
Andrea L Marat, Hatem Dokainish, Peter S McPherson. J Biol Chem 2011
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Relations between C9orf72 expansion size in blood, age at onset, age at collection and transmission across generations in patients and presymptomatic carriers.
Clémence Fournier, Mathieu Barbier, Agnès Camuzat, Vincent Anquetil, Serena Lattante, Fabienne Clot, Cécile Cazeneuve, Daisy Rinaldi, Philippe Couratier, Vincent Deramecourt,[...]. Neurobiol Aging 2019
Clémence Fournier, Mathieu Barbier, Agnès Camuzat, Vincent Anquetil, Serena Lattante, Fabienne Clot, Cécile Cazeneuve, Daisy Rinaldi, Philippe Couratier, Vincent Deramecourt,[...]. Neurobiol Aging 2019
100
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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Mutations in the small GTPase gene RAB39B are responsible for X-linked mental retardation associated with autism, epilepsy, and macrocephaly.
Maila Giannandrea, Veronica Bianchi, Maria Lidia Mignogna, Alessandra Sirri, Salvatore Carrabino, Errico D'Elia, Matteo Vecellio, Silvia Russo, Francesca Cogliati, Lidia Larizza,[...]. Am J Hum Genet 2010
Maila Giannandrea, Veronica Bianchi, Maria Lidia Mignogna, Alessandra Sirri, Salvatore Carrabino, Errico D'Elia, Matteo Vecellio, Silvia Russo, Francesca Cogliati, Lidia Larizza,[...]. Am J Hum Genet 2010
100
p62 positive, TDP-43 negative, neuronal cytoplasmic and intranuclear inclusions in the cerebellum and hippocampus define the pathology of C9orf72-linked FTLD and MND/ALS.
Safa Al-Sarraj, Andrew King, Claire Troakes, Bradley Smith, Satomi Maekawa, Istvan Bodi, Boris Rogelj, Ammar Al-Chalabi, Tibor Hortobágyi, Christopher E Shaw. Acta Neuropathol 2011
Safa Al-Sarraj, Andrew King, Claire Troakes, Bradley Smith, Satomi Maekawa, Istvan Bodi, Boris Rogelj, Ammar Al-Chalabi, Tibor Hortobágyi, Christopher E Shaw. Acta Neuropathol 2011
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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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Glial Cell Dysfunction in C9orf72-Related Amyotrophic Lateral Sclerosis and Frontotemporal Dementia.
Mehdi Ghasemi, Kiandokht Keyhanian, Catherine Douthwright. Cells 2021
Mehdi Ghasemi, Kiandokht Keyhanian, Catherine Douthwright. Cells 2021
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Longin and GAF domains: structural evolution and adaptation to the subcellular trafficking machinery.
Nicola De Franceschi, Klemens Wild, Alexander Schlacht, Joel B Dacks, Irmgard Sinning, Francesco Filippini. Traffic 2014
Nicola De Franceschi, Klemens Wild, Alexander Schlacht, Joel B Dacks, Irmgard Sinning, Francesco Filippini. Traffic 2014
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The intellectual disability protein RAB39B selectively regulates GluA2 trafficking to determine synaptic AMPAR composition.
Maria Lidia Mignogna, Maila Giannandrea, Antonia Gurgone, Francesca Fanelli, Francesco Raimondi, Lisa Mapelli, Silvia Bassani, Huaqiang Fang, Eelco Van Anken, Massimo Alessio,[...]. Nat Commun 2015
Maria Lidia Mignogna, Maila Giannandrea, Antonia Gurgone, Francesca Fanelli, Francesco Raimondi, Lisa Mapelli, Silvia Bassani, Huaqiang Fang, Eelco Van Anken, Massimo Alessio,[...]. Nat Commun 2015
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C9ORF72 transcription in a frontotemporal dementia case with two expanded alleles.
Johnathan Cooper-Knock, Adrian Higginbottom, Natalie Connor-Robson, Nadhim Bayatti, Joanna J Bury, Janine Kirby, Natalia Ninkina, Vladimir L Buchman, Pamela J Shaw. Neurology 2013
Johnathan Cooper-Knock, Adrian Higginbottom, Natalie Connor-Robson, Nadhim Bayatti, Joanna J Bury, Janine Kirby, Natalia Ninkina, Vladimir L Buchman, Pamela J Shaw. Neurology 2013
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ADF/cofilin-mediated actin retrograde flow directs neurite formation in the developing brain.
Kevin C Flynn, Farida Hellal, Dorothee Neukirchen, Sonja Jacob, Sabina Tahirovic, Sebastian Dupraz, Sina Stern, Boyan K Garvalov, Christine Gurniak, Alisa E Shaw,[...]. Neuron 2012
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Hypermethylation of the CpG-island near the C9orf72 G₄C₂-repeat expansion in FTLD patients.
Zhengrui Xi, Innocenzo Rainero, Elisa Rubino, Lorenzo Pinessi, Amalia C Bruni, Raffaele G Maletta, Benedetta Nacmias, Sandro Sorbi, Daniela Galimberti, Ezequiel I Surace,[...]. Hum Mol Genet 2014
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Viral delivery of C9orf72 hexanucleotide repeat expansions in mice leads to repeat-length-dependent neuropathology and behavioural deficits.
Saul Herranz-Martin, Jayanth Chandran, Katherine Lewis, Padraig Mulcahy, Adrian Higginbottom, Callum Walker, Isabel Martinez-Pena Y Valenzuela, Ross A Jones, Ian Coldicott, Tommaso Iannitti,[...]. Dis Model Mech 2017
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Elevated methylation levels, reduced expression levels, and frequent contractions in a clinical cohort of C9orf72 expansion carriers.
Jazmyne L Jackson, NiCole A Finch, Matthew C Baker, Jennifer M Kachergus, Mariely DeJesus-Hernandez, Kimberly Pereira, Elizabeth Christopher, Mercedes Prudencio, Michael G Heckman, E Aubrey Thompson,[...]. Mol Neurodegener 2020
Jazmyne L Jackson, NiCole A Finch, Matthew C Baker, Jennifer M Kachergus, Mariely DeJesus-Hernandez, Kimberly Pereira, Elizabeth Christopher, Mercedes Prudencio, Michael G Heckman, E Aubrey Thompson,[...]. Mol Neurodegener 2020
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Polymerase chain reaction and Southern blot-based analysis of the C9orf72 hexanucleotide repeat in different motor neuron diseases.
Annemarie Hübers, Nicolai Marroquin, Birgit Schmoll, Stefan Vielhaber, Marlies Just, Benjamin Mayer, Josef Högel, Johannes Dorst, Thomas Mertens, Walter Just,[...]. Neurobiol Aging 2014
Annemarie Hübers, Nicolai Marroquin, Birgit Schmoll, Stefan Vielhaber, Marlies Just, Benjamin Mayer, Josef Högel, Johannes Dorst, Thomas Mertens, Walter Just,[...]. Neurobiol Aging 2014
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A C9ORF72/SMCR8-containing complex regulates ULK1 and plays a dual role in autophagy.
Mei Yang, Chen Liang, Kunchithapadam Swaminathan, Stephanie Herrlinger, Fan Lai, Ramin Shiekhattar, Jian-Fu Chen. Sci Adv 2016
Mei Yang, Chen Liang, Kunchithapadam Swaminathan, Stephanie Herrlinger, Fan Lai, Ramin Shiekhattar, Jian-Fu Chen. Sci Adv 2016
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Identification of a novel loss-of-function C9orf72 splice site mutation in a patient with amyotrophic lateral sclerosis.
Fang Liu, Qing Liu, Chao Xia Lu, Bo Cui, Xia Nan Guo, Rong Rong Wang, Ming Sheng Liu, Xiao Guang Li, Li-Ying Cui, Xue Zhang. Neurobiol Aging 2016
Fang Liu, Qing Liu, Chao Xia Lu, Bo Cui, Xia Nan Guo, Rong Rong Wang, Ming Sheng Liu, Xiao Guang Li, Li-Ying Cui, Xue Zhang. Neurobiol Aging 2016
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The overlap of amyotrophic lateral sclerosis and frontotemporal dementia.
Catherine Lomen-Hoerth, Thomas Anderson, Bruce Miller. Neurology 2002
Catherine Lomen-Hoerth, Thomas Anderson, Bruce Miller. Neurology 2002
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C9orf72 regulates energy homeostasis by stabilizing mitochondrial complex I assembly.
Tao Wang, Honghe Liu, Kie Itoh, Sungtaek Oh, Liang Zhao, Daisuke Murata, Hiromi Sesaki, Thomas Hartung, Chan Hyun Na, Jiou Wang. Cell Metab 2021
Tao Wang, Honghe Liu, Kie Itoh, Sungtaek Oh, Liang Zhao, Daisuke Murata, Hiromi Sesaki, Thomas Hartung, Chan Hyun Na, Jiou Wang. Cell Metab 2021
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Ubiquitinated TDP-43 in frontotemporal lobar degeneration and amyotrophic lateral sclerosis.
Manuela Neumann, Deepak M Sampathu, Linda K Kwong, Adam C Truax, Matthew C Micsenyi, Thomas T Chou, Jennifer Bruce, Theresa Schuck, Murray Grossman, Christopher M Clark,[...]. Science 2006
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Genome-wide synthetic lethal CRISPR screen identifies FIS1 as a genetic interactor of ALS-linked C9ORF72.
Noori Chai, Michael S Haney, Julien Couthouis, David W Morgens, Alyssa Benjamin, Kathryn Wu, James Ousey, Shirleen Fang, Sarah Finer, Michael C Bassik,[...]. Brain Res 2020
Noori Chai, Michael S Haney, Julien Couthouis, David W Morgens, Alyssa Benjamin, Kathryn Wu, James Ousey, Shirleen Fang, Sarah Finer, Michael C Bassik,[...]. Brain Res 2020
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Differential Toxicity of Nuclear RNA Foci versus Dipeptide Repeat Proteins in a Drosophila Model of C9ORF72 FTD/ALS.
Helene Tran, Sandra Almeida, Jill Moore, Tania F Gendron, UmaDevi Chalasani, Yubing Lu, Xing Du, Jeffrey A Nickerson, Leonard Petrucelli, Zhiping Weng,[...]. Neuron 2015
Helene Tran, Sandra Almeida, Jill Moore, Tania F Gendron, UmaDevi Chalasani, Yubing Lu, Xing Du, Jeffrey A Nickerson, Leonard Petrucelli, Zhiping Weng,[...]. Neuron 2015
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Are amyotrophic lateral sclerosis patients cognitively normal?
C Lomen-Hoerth, J Murphy, S Langmore, J H Kramer, R K Olney, B Miller. Neurology 2003
C Lomen-Hoerth, J Murphy, S Langmore, J H Kramer, R K Olney, B Miller. Neurology 2003
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C9orf72 suppresses systemic and neural inflammation induced by gut bacteria.
Aaron Burberry, Michael F Wells, Francesco Limone, Alexander Couto, Kevin S Smith, James Keaney, Gaëlle Gillet, Nick van Gastel, Jin-Yuan Wang, Olli Pietilainen,[...]. Nature 2020
Aaron Burberry, Michael F Wells, Francesco Limone, Alexander Couto, Kevin S Smith, James Keaney, Gaëlle Gillet, Nick van Gastel, Jin-Yuan Wang, Olli Pietilainen,[...]. Nature 2020
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Extensive size variability of the GGGGCC expansion in C9orf72 in both neuronal and non-neuronal tissues in 18 patients with ALS or FTD.
Angelica Nordin, Chizuru Akimoto, Anna Wuolikainen, Helena Alstermark, Pär Jonsson, Anna Birve, Stefan L Marklund, Karin S Graffmo, Karin Forsberg, Thomas Brännström,[...]. Hum Mol Genet 2015
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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
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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Deletion of C9ORF72 results in motor neuron degeneration and stress sensitivity in C. elegans.
Martine Therrien, Guy A Rouleau, Patrick A Dion, J Alex Parker. PLoS One 2013
Martine Therrien, Guy A Rouleau, Patrick A Dion, J Alex Parker. PLoS One 2013
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Human C9ORF72 Hexanucleotide Expansion Reproduces RNA Foci and Dipeptide Repeat Proteins but Not Neurodegeneration in BAC Transgenic Mice.
Owen M Peters, Gabriela Toro Cabrera, Helene Tran, Tania F Gendron, Jeanne E McKeon, Jake Metterville, Alexandra Weiss, Nicholas Wightman, Johnny Salameh, Juyhun Kim,[...]. Neuron 2015
Owen M Peters, Gabriela Toro Cabrera, Helene Tran, Tania F Gendron, Jeanne E McKeon, Jake Metterville, Alexandra Weiss, Nicholas Wightman, Johnny Salameh, Juyhun Kim,[...]. Neuron 2015
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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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C9orf72 associates with inactive Rag GTPases and regulates mTORC1-mediated autophagosomal and lysosomal biogenesis.
Mingmei Wang, Hongfeng Wang, Zhouteng Tao, Qin Xia, Zongbing Hao, Jochen H M Prehn, Xuechu Zhen, Guanghui Wang, Zheng Ying. Aging Cell 2020
Mingmei Wang, Hongfeng Wang, Zhouteng Tao, Qin Xia, Zongbing Hao, Jochen H M Prehn, Xuechu Zhen, Guanghui Wang, Zheng Ying. Aging Cell 2020
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The Enigmatic Role of C9ORF72 in Autophagy.
Melissa Nassif, Ute Woehlbier, Patricio A Manque. Front Neurosci 2017
Melissa Nassif, Ute Woehlbier, Patricio A Manque. Front Neurosci 2017
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Family-wide characterization of the DENN domain Rab GDP-GTP exchange factors.
Shin-ichiro Yoshimura, Andreas Gerondopoulos, Andrea Linford, Daniel J Rigden, Francis A Barr. J Cell Biol 2010
Shin-ichiro Yoshimura, Andreas Gerondopoulos, Andrea Linford, Daniel J Rigden, Francis A Barr. J Cell Biol 2010
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Variant-selective stereopure oligonucleotides protect against pathologies associated with C9orf72-repeat expansion in preclinical models.
Yuanjing Liu, Jean-Cosme Dodart, Helene Tran, Shaunna Berkovitch, Maurine Braun, Michael Byrne, Ann F Durbin, Xiao Shelley Hu, Naoki Iwamoto, Hyun Gyung Jang,[...]. Nat Commun 2021
Yuanjing Liu, Jean-Cosme Dodart, Helene Tran, Shaunna Berkovitch, Maurine Braun, Michael Byrne, Ann F Durbin, Xiao Shelley Hu, Naoki Iwamoto, Hyun Gyung Jang,[...]. Nat Commun 2021
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Attenuation of cGAS-STING signaling is mediated by a p62/SQSTM1-dependent autophagy pathway activated by TBK1.
Thaneas Prabakaran, Chiranjeevi Bodda, Christian Krapp, Bao-Cun Zhang, Maria H Christensen, Chenglong Sun, Line Reinert, Yujia Cai, Søren B Jensen, Morten K Skouboe,[...]. EMBO J 2018
Thaneas Prabakaran, Chiranjeevi Bodda, Christian Krapp, Bao-Cun Zhang, Maria H Christensen, Chenglong Sun, Line Reinert, Yujia Cai, Søren B Jensen, Morten K Skouboe,[...]. EMBO J 2018
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Characterization of DNA hypermethylation in the cerebellum of c9FTD/ALS patients.
Veronique V Belzil, Peter O Bauer, Tania F Gendron, Melissa E Murray, Dennis Dickson, Leonard Petrucelli. Brain Res 2014
Veronique V Belzil, Peter O Bauer, Tania F Gendron, Melissa E Murray, Dennis Dickson, Leonard Petrucelli. Brain Res 2014
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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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Isoform-specific antibodies reveal distinct subcellular localizations of C9orf72 in amyotrophic lateral sclerosis.
Shangxi Xiao, Laura MacNair, Philip McGoldrick, Paul M McKeever, Jesse R McLean, Ming Zhang, Julia Keith, Lorne Zinman, Ekaterina Rogaeva, Janice Robertson. Ann Neurol 2015
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Rab GTPases: The Key Players in the Molecular Pathway of Parkinson's Disease.
Meng-Meng Shi, Chang-He Shi, Yu-Ming Xu. Front Cell Neurosci 2017
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Dipeptide repeat protein pathology in C9ORF72 mutation cases: clinico-pathological correlations.
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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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Characterization of the repeat expansion size in C9orf72 in amyotrophic lateral sclerosis and frontotemporal dementia.
Oriol Dols-Icardo, Alberto García-Redondo, Ricard Rojas-García, Raquel Sánchez-Valle, Aina Noguera, Estrella Gómez-Tortosa, Pau Pastor, Isabel Hernández, Jesús Esteban-Pérez, Marc Suárez-Calvet,[...]. Hum Mol Genet 2014
Oriol Dols-Icardo, Alberto García-Redondo, Ricard Rojas-García, Raquel Sánchez-Valle, Aina Noguera, Estrella Gómez-Tortosa, Pau Pastor, Isabel Hernández, Jesús Esteban-Pérez, Marc Suárez-Calvet,[...]. Hum Mol Genet 2014
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Spatially Stable Mitochondrial Compartments Fuel Local Translation during Plasticity.
Vidhya Rangaraju, Marcel Lauterbach, Erin M Schuman. Cell 2019
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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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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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Gain of Toxicity from ALS/FTD-Linked Repeat Expansions in C9ORF72 Is Alleviated by Antisense Oligonucleotides Targeting GGGGCC-Containing RNAs.
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Frequency of the C9orf72 hexanucleotide repeat expansion in patients with amyotrophic lateral sclerosis and frontotemporal dementia: a cross-sectional study.
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Targeted degradation of sense and antisense C9orf72 RNA foci as therapy for ALS and frontotemporal degeneration.
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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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Immunohistochemical detection of C9orf72 protein in frontotemporal lobar degeneration and motor neurone disease: patterns of immunostaining and an evaluation of commercial antibodies.
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Co-cited is the co-citation frequency, indicating how many articles cite the article together with the query article. Similarity is the co-citation as percentage of the times cited of the query article or the article in the search results, whichever is the lowest. These numbers are calculated for the last 100 citations when articles are cited more than 100 times.