Expanded GGGGCC Hexanucleotide Repeat in Noncoding Region of C9ORF72 Causes Chromosome 9p-Linked FTD and ALS

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    Ming-Yuan Su, Simon A. Fromm, Roberto Zoncu, James H. Hurley · 2020 · Nature
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    Shunichiro Shinagawa, Shinichiro Nakajima, Eric Plitman, Ariel Graff‐Guerrero, Masaru Mimura, Kazuhiko Nakayama, Bruce L. Miller · 2014 · Journal of Alzheimer s Disease
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    Ton Fang, Goun Je, Peter Pacut, Kiandokht Keyhanian, Jeff Gao, Mehdi Ghasemi · 2022 · Cells
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    Patrizia Rizzu, Cornelis Blauwendraat, Sasja Heetveld, Emily M. Lynes, Melissa Castillo-Lizardo, Ashutosh Dhingra, Elwira Pyż, Markus A. Hobert, Matthis Synofzik, Javier Simón‐Sánchez et al. · 2016 · Acta Neuropathologica Communications
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    Bing‐Wen Soong, Patrick J. Morrison · 2018 · Handbook of clinical neurology
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    Borroni, Barbara, Benussi, Alberto, Archetti, Silvana, Galimberti, Daniela, Parnetti, Lucilla, Nacmias, Benedetta, Sorbi, Sandro, Scarpini, Elio, Padovani, Alessandro · 2015 · Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration
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    Malcolm J. Proudfoot, Nick J Gutowski, Dieter Edbauer, David A. Hilton, Mark Stephens, Julia Rankin, Ian R. Mackenzie · 2014 · Acta Neuropathologica
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    Junhao Li, Manoj K. Jaiswal, Jo-fan Chien, Alexey Kozlenkov, Jinyoung Jung, Ping Zhou, Mahammad Gardashli, Luc Pregent, Erica Engelberg-Cook, Dennis W. Dickson et al. · 2023 · Nature Communications
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    Melanie M. Das, Clive N. Svendsen · 2014 · Neurobiology of Aging
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    Marka van Blitterswijk, Bianca Mullen, Aleksandra Wojtas, Michael G. Heckman, Nancy N. Diehl, Matthew Baker, Mariely DeJesus‐Hernandez, Patricia H. Brown, Melissa Erin Murray, Ging‐Yuek Robin Hsiung et al. · 2014 · Molecular Neurodegeneration
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    Tsuyoshi SEKIGUCHI, Tadashi Kanouchi, Kazumoto Shibuya, Yu‐ichi Noto, Y. Yagi, A. Inaba, Keisuke Abe, Sonoko Misawa, Satoshi Orimo, Toshimitsu Kobayashi et al. · 2013 · Journal of Neurology Neurosurgery & Psychiatry
47. Defects in synaptic transmission at the neuromuscular junction precede motor deficits in a TDP‐43 Q331K transgenic mouse model of amyotrophic lateral sclerosis
    Kirat K. Chand, Kah Meng Lee, John D. Lee, Hao Qiu, Emily F. Willis, Nickolas A. Lavidis, Massimo A. Hilliard, Peter G. Noakes · 2018 · The FASEB Journal
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    Osaka, Mayuko, Ito, Daisuke, Suzuki, Norihiro · 2016 · Biochemical and Biophysical Research Communications
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    Bush, Jessica A., Aikawa, Haruo, Fuerst, Rita, Li, Yue, Ursu, Andrei, Meyer, Samantha M., Benhamou, Raphael I., Chen, Jonathan L., Khan, Tanya, Wagner-Griffin, Sarah et al. · 2021 · Science Translational Medicine
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    Peet, Bradley T., Spina, Salvatore, Mundada, Nidhi, La Joie, Renaud · 2021 · Neurotherapeutics
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    Rachna S. Pandya, Haining Zhu, Wei Li, Robert P. Bowser, Robert Max Friedlander, Xin Wang · 2013 · Cellular and Molecular Life Sciences
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    Margaux F. Keller, Luigi Ferrucci, Andrew Singleton, Pentti J. Tienari, Hannu Laaksovirta, Gabriella Restagno, Adriano Chiò, Bryan J. Traynor, Mike A. Nalls · 2014 · JAMA Neurology
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    Naoki Suzuki, Asif Mirza Maroof, Florian T. Merkle, Kathryn Koszka, Atsushi Intoh, Ian K. G. Armstrong, Rob Moccia, Brandi N. Davis‐Dusenbery, Kevin C. Eggan · 2013 · Nature Neuroscience
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    Lindsey D. Goodman, Mercedes Prudencio, Nicholas J. Kramer, Luis F. Martinez-Ramirez, Ananth R. Srinivasan, Matthews Lan, Michael J Parisi, Yongqing Zhu, Jeannie Chew, Casey N. Cook et al. · 2019 · Nature Neuroscience
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    Dan Tang, Jingwen Sheng, Liangting Xu, Xiechao Zhan, Jiaming Liu, Hui Jiang, Xiaoling Shu, Xiaoyu Liu, Tizhong Zhang, Lan Jiang et al. · 2020 · Proceedings of the National Academy of Sciences
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    Tiziana Bonifacino, Roberta Arianna Zerbo, Matilde Balbi, Carola Torazza, Giulia Frumento, Ernesto Fedele, Giambattista Bonanno, Marco Milanese · 2021 · International Journal of Molecular Sciences
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    Sebum Lee, Eric Jinsheng Huang · 2015 · Brain Research
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    Yazi Diana Ke, Annika van Hummel, Claire H. Stevens, Amadeus Gladbach, Stefania Ippati, Mian Bi, Wei S. Lee, Sarah Krüger, Julia van der Hoven, Alexander M. Volkerling et al. · 2015 · Acta Neuropathologica
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    Patricia S. Estes, Scott G. Daniel, Abigail P. McCallum, Ashley V. Boehringer, Alona S. Sukhina, Rebecca A. Zwick, Daniela C. Zarnescu · 2013 · Disease Models & Mechanisms
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    Susan Byrne, Marwa Elamin, Peter Bede, Orla M. Hardiman · 2012 · Journal of Neurology Neurosurgery & Psychiatry
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    Bo Zhou, Changdong Liu, Yanyan Geng, Guang Zhu · 2015 · Scientific Reports
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    Kathleen M. Cunningham, Kirstin Maulding, Kai Ruan, Mümine Şentürk, Jonathan C. Grima, Hyun Sung, Zhongyuan Zuo, Helen Song, Junli Gao, Sandeep Kumar Dubey et al. · 2020 · eLife
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    Primož Šket, Jure Pohleven, Anja Kovanda, Maja Štalekar, Vera Župunski, Matja Zalar, Janez Plavec, Boris Rogelj · 2014 · Neurobiology of Aging
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    Stacey A. Sakowski, J. Simon Lunn, A.S. Busta, Sang Su Oh, Grettel J. Zamora-Berridi, Madeline Palmer, Andrew A Rosenberg, Stephen G Philip, James J. Dowling, Eva L. Feldman · 2012 · Molecular Neurodegeneration
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    Christophe Verbeeck, Qiudong Deng, Mariely DeJesus‐Hernandez, Georgia Taylor, Carolina Ceballos‐Diaz, Jannet Kocerha, Todd Eliot Golde, Pritam Das, Rosa Rademakers, Dennis W. Dickson et al. · 2012 · Molecular Neurodegeneration
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    Raúl Delgado‐Morales, Manel Esteller · 2017 · Molecular Psychiatry
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    Stephen A. Goutman · 2017 · CONTINUUM Lifelong Learning in Neurology
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    Cacace, Rita, Van Cauwenberghe, Caroline, Bettens, Karolien, Gijselinck, Ilse, van der Zee, Julie, Engelborghs, Sebastiaan, Vandenbulcke, Mathieu, Van Dongen, Jasper, Bäumer, Veerle, Dillen, Lubina et al. · 2013 · Neurobiology of Aging
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    Achi, Eugene Y., Rudnicki, Stacy A. · 2012 · Neurology Research International
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    Floeter, Mary Kay, Bageac, Devin, Danielian, Laura E., Braun, Laura E., Traynor, Bryan J., Kwan, Justin Y. · 2016 · NeuroImage: Clinical
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    Taha Omer, Eoin Finegan, Siobhán Hutchinson, Mark A. Doherty, Alice Vajda, Russell Lewis McLaughlin, Niall P Pender, Orla M. Hardiman, Peter Bede · 2017 · Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration
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    Hongbo Chen, Mark W. Kankel, Susan C. Su, Steve Han, Dimitry Ofengeim · 2018 · Cell Death and Differentiation
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    Joke De Vocht, Jeroen Blommaert, Martijn Devrome, Ahmed Radwan, Donatienne Van Weehaeghe, Maxim De Schaepdryver, Jenny Ceccarini, Ahmadreza Rezaei, Georg Schramm, June van Aalst et al. · 2020 · JAMA Neurology
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