A Hexanucleotide Repeat Expansion in C9ORF72 Is the Cause of Chromosome 9p21-Linked ALS-FTD

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2. Repeat-associated non-ATG (RAN) translation
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12. Genotype-phenotype relationship in hereditary amyotrophic lateral sclerosis
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13. Dipeptide repeat protein inclusions are rare in the spinal cord and almost absent from motor neurons in C9ORF72 mutant amyotrophic lateral sclerosis and are unlikely to cause their degeneration
    Gomez-Deza, Jorge, Lee, Youn-bok, Troakes, Claire, Nolan, Matthew, Al-Sarraj, Safa, Gallo, Jean-Marc, Shaw, Christopher E. · 2015 · Acta Neuropathologica Communications
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    Jeromin, Andreas, Bowser, Robert · 2017 · Advances in Neurobiology
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    Mariely DeJesus‐Hernandez, NiCole A. Finch, Xue Wang, Tania F. Gendron, Kevin F. Bieniek, Michael G. Heckman, Aliaksei S. Vasilevich, Melissa Erin Murray, Linda Rousseau, Rachael E. Weesner et al. · 2017 · Acta Neuropathologica
21. RNA binding proteins and the pathological cascade in ALS/FTD neurodegeneration
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22. Transgenic and physiological mouse models give insights into different aspects of amyotrophic lateral sclerosis
    Francesca De Giorgio, Cheryl Maduro, Elizabeth Fisher, Abraham Acevedo‐Arozena · 2019 · Disease Models & Mechanisms
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    Brittany N. Flores, Xingli Li, Ahmed Mujtaba Malik, Jose Martinez, Asim A. Beg, Sami J. Barmada · 2019 · Cell Reports
24. Dipeptide repeat proteins inhibit homology-directed DNA double strand break repair in C9ORF72 ALS/FTD
    Nadja S. Andrade, Melina Ramic, Rustam Esanov, Wenjun Liu, Matthew J. Rybin, Gabriel Gaidosh, Abbas Abdallah, Samuel Del’Olio, Tyler C. Huff, Nancy T. Chee et al. · 2020 · Molecular Neurodegeneration
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    Gaetano Calabrese, Cristen M. Molzahn, Thibault Mayor · 2022 · Journal of Biological Chemistry
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    Munishwar Nath Gupta, Vladimir Nikolaevich Uversky · 2023 · International Journal of Biological Macromolecules
27. Does a loss of TDP-43 function cause neurodegeneration?
    Zuoshang Xu · 2012 · Molecular Neurodegeneration
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    Lattante, Serena, de Calbiac, Hortense, Le Ber, Isabelle, Brice, Alexis, Ciura, Sorana, Kabashi, Edor · 2015 · Human Molecular Genetics
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    Eduardo Gascon, Fen‐Biao Gao · 2012 · Frontiers in Neuroscience
30. Cellular and physiological functions of C9ORF72 and implications for ALS/FTD
    Weilun Pang, Fenghua Hu · 2020 · Journal of Neurochemistry
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    Shaopeng Wang, Malgorzata J. Latallo, Zhe Zhang, Bo Huang, Dmitriy G. Bobrovnikov, Daoyuan Dong, Nathan M. Livingston, Wilson Tjoeng, Lindsey R. Hayes, Jeffrey D. Rothstein et al. · 2021 · Nature Communications
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    Ilaria Frasson, Valentina Pirota, Sara N. Richter, Filippo Doria · 2022 · International Journal of Biological Macromolecules
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    Hong‐Fu Li, Zhi‐Ying Wu · 2016 · Translational Neurodegeneration
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    Youn‐Bok Lee, Pranetha Baskaran, Jorge Gómez-Deza, Han-Jou Chen, Agnes Lumi Nishimura, Bradley N. Smith, Claire Troakes, Yoshitsugu Adachi, Alan Stepto, Leonard Petrucelli et al. · 2017 · Human Molecular Genetics
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    Mahlon A. Collins, David Riascos, Tina Kovalik, Jiyan An, Kelly Krupa, Kristin Krupa, Brian L. Hood, Thomas P. Conrads, Alan Edward Renton, Bryan J. Traynor et al. · 2012 · Acta Neuropathologica
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43. Hypermethylation of the CpG-island near the C9orf72 G₄C₂-repeat expansion in FTLD patients.
    Zhengrui Xi, I. Rainero, E. Rubino, L. Pinessi, A. Bruni, R. Maletta, B. Nacmias, S. Sorbi, D. Galimberti, E. Surace et al. · 2014 · Human Molecular Genetics
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    Karch, Celeste M., Wen, Natalie, Fan, Chun C., Yokoyama, Jennifer S., Kouri, Naomi, Ross, Owen A., Höglinger, Gunter, Müller, Ulrich, Ferrari, Raffaele, Hardy, John et al. · 2018 · JAMA Neurology
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    Hisae Tateishi‐Karimata, Naoki Sugimoto · 2021 · Nucleic Acids Research
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    Mitra, Sarmistha, Dash, Raju, Nishan, Amena Al, Habiba, Sarmin Ummey, Moon, Il Soo · 2023 · Journal of Advanced Research
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50. Genetics of Amyotrophic Lateral Sclerosis
    Gregory, Jenna M., Fagegaltier, Delphine, Phatnani, Hemali, Harms, Matthew B. · 2020 · Current Genetic Medicine Reports
51. RNA-binding proteins in microsatellite expansion disorders: Mediators of RNA toxicity
    Gloria Vittone Echeverria, Thomas A. Cooper · 2012 · Brain Research
52. Age of onset of amyotrophic lateral sclerosis is modulated by a locus on 1p34.1
    The ALSGEN Consortium · 2012 · Neurobiology of Aging
53. A C9orf72 ALS/FTD Ortholog Acts in Endolysosomal Degradation and Lysosomal Homeostasis
    Anna Corrionero, Howard Robert Horvitz · 2018 · Current Biology
54. Amyotrophic Lateral Sclerosis associated FUS mutation shortens mitochondria and induces neurotoxicity
    Tadashi Nakaya, Manolis Maragkakis · 2018 · Scientific Reports
55. Neuroanatomical Quantitative Proteomics Reveals Common Pathogenic Biological Routes between Amyotrophic Lateral Sclerosis (ALS) and Frontotemporal Dementia (FTD)
    Marina Iridoy, Irene Zubiri, María Victoria Zelaya, Leyre Martinez, Karina Ausín, Mercedes Lachén‐Montes, Enrique Santamaría, Joaquín Fernández‐Irigoyen, Ivonne Jericó · 2018 · International Journal of Molecular Sciences
56. Nucleocytoplasmic transport defects in neurodegeneration — Cause or consequence?
    Saskia Hutten, Dorothee Dormann · 2019 · Seminars in Cell and Developmental Biology
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    Nilo Riva, Federica Agosta, Christian Lunetta, Massimo Filippi, Angelo Quattrini · 2016 · Journal of Neurology
60. Comparative analysis of C9orf72 and sporadic disease in an ALS clinic population
    Mfon E. Umoh, Christina Nicole Fournier, Yingjie Li, Meraida A. Polak, Latoya Shaw, John E. Landers, William T. Hu, Marla Gearing, Jonathan D. Glass · 2016 · Neurology
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    Ryan J. H. West, Yubing Lu, Bruno Marie, Fen‐Biao Gao, Sean T. Sweeney · 2015 · The Journal of Cell Biology
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    Nigel G. Laing · 2012 · Critical Reviews in Clinical Laboratory Sciences
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    Cinzia Gellera, Cinzia Tiloca, Roberto Del Bo, Lucia Corrado, Viviana Pensato, Jennifer Agostini, Cristina Cereda, Antonia Ratti, Barbara Castellotti, Stefania Paola Corti et al. · 2012 · Journal of Neurology Neurosurgery & Psychiatry
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    Takuya Konno, Atsushi Shiga, Akira Tsujino, Akihiro Sugai, Taisuke Kato, Kazuaki Kanai, Akio Yokoseki, Hiroto Eguchi, Satoshi Kuwabara, Masatoyo Nishizawa et al. · 2012 · Journal of Neurology Neurosurgery & Psychiatry
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    Qihui Zhou, Carina Lehmer, Meike Michaelsen, Kohji Mori, Dominik Alterauge, Dirk Baumjohann, Martin H. Schludi, Johanna Greiling, Daniel Farny, Andrew Flatley et al. · 2017 · EMBO Molecular Medicine
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    Chiara F. Valori, Liliana Brambilla, Francesca Martorana, Daniela Rossi · 2013 · Cellular and Molecular Life Sciences
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    Aleksey Shatunov, Ammar Al‐Chalabi · 2020 · Neurobiology of Disease
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    April L. Darling, James Shorter · 2021 · Biochimica et Biophysica Acta (BBA) - Molecular Cell Research
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    Mercedes Garcia‐Gil, Marcella Camici, S. Allegrini, Rossana Pesi, Maria Grazia Tozzi · 2021 · Frontiers in Pharmacology
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    Scott P. Allen, Sandeep Sundara Rajan, Lynn Duffy, Heather Mortiboys, Adrian Higginbottom, Andrew J. Grierson, Pamela J. Shaw · 2013 · Neurobiology of Aging
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    Yang Liu, Tao Wang, Yon Ju Ji, Kenji Johnson, Honghe Liu, Kaitlin Johnson, Scott Bailey, Yongwon Suk, Yuning Lu, Mingming Liu et al. · 2018 · Genes & Development
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    Christina Schuster, Elisabeth Kasper, Martin Dyrba, Judith Machts, Daniel Bittner, Jörn Kaufmann, Alex J. Mitchell, R. Benecke, Stefan Johannes Teipel, Stefan Vielhaber et al. · 2013 · Neurobiology of Aging
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    Emma M. Devenney, Ramón Landín-Romero, Muireann Irish, Michael Hornberger, Eneida Mioshi, Glenda Margaret Halliday, Matthew C. Kiernan, John R. Hodges · 2016 · NeuroImage Clinical
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    Cook, Casey, Kang, Silvia S., Carlomagno, Yari, Lin, Wen-Lang, Yue, Mei, Kurti, Aishe, Shinohara, Mitsuru, Jansen-West, Karen, Perkerson, Emilie, Castanedes-Casey, Monica et al. · 2015 · Human Molecular Genetics
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