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

DeJesus-Hernandez, Mariely, Mackenzie, Ian R., Boeve, Bradley F., Boxer, Adam L., Baker, Matt, Rutherford, Nicola J., Nicholson, Alexandra M., Finch, NiCole A. +20 more·2011·Neuron

Cited by (1,058)

Items 101–200 of 1,058

  1. Noncoding CGG repeat expansions in neuronal intranuclear inclusion disease, oculopharyngodistal myopathy and an overlapping disease
    Hiroyuki Ishiura, Shota Shibata, Jun Yoshimura, Yuta Suzuki, Wei Qü, Koichiro Doi, M. Asem Almansour, Junko Kanda Kikuchi, Makiko Taira, Jun Mitsui et al. · 2019 · Nature Genetics
  2. Intercellular propagated misfolding of wild-type Cu/Zn superoxide dismutase occurs via exosome-dependent and -independent mechanisms
    Leslie I. Grad, Justin J. Yerbury, Bradley J. Turner, William Guest, Edward Pokrishevsky, Megan A. O’Neill, Anat Yanai, Judith M. Silverman, Rafaa Zeineddine, Lisa Corcoran et al. · 2014 · Proceedings of the National Academy of Sciences
  3. Interactions of pathological proteins in neurodegenerative diseases
    Tara L. Spires‐Jones, Johannes Attems, Dietmar Rudolf Thal · 2017 · Acta Neuropathologica
  4. Toxic PR Poly-Dipeptides Encoded by the C9orf72 Repeat Expansion Target LC Domain Polymers
    Yi Lin, Eiichiro Mori, Masato Kato, Siheng Xiang, Leeju C. Wu, Ilmin Kwon, Steven Lanier McKnight · 2016 · Cell
  5. CpG and non-CpG methylation in epigenetic gene regulation and brain function
    Jang, Hyun, Shin, Woo, Lee, Jeong, Do, Jeong · 2017 · Genes
  6. Loss of C9ORF72 impairs autophagy and synergizes with polyQ Ataxin‐2 to induce motor neuron dysfunction and cell death
    Sellier, Chantal, Campanari, Maria‐Letizia, Julie Corbier, Camille, Gaucherot, Angeline, Kolb‐Cheynel, Isabelle, Oulad‐Abdelghani, Mustapha, Ruffenach, Frank, Page, Adeline, Ciura, Sorana, Kabashi, Edor et al. · 2016 · The EMBO Journal
  7. Microphysiological 3D model of amyotrophic lateral sclerosis (ALS) from human iPS-derived muscle cells and optogenetic motor neurons
    Tatsuya Osaki, Sebastien G. M. Uzel, Roger Dale Kamm · 2018 · Science Advances
  8. RNA-binding proteins with prion-like domains in health and disease
    Alice Ford Harrison, James Shorter · 2017 · Biochemical Journal
  9. Repeat expansion diseases
    Henry Lauris Paulson · 2018 · Handbook of clinical neurology
  10. Stress Granule Assembly Disrupts Nucleocytoplasmic Transport
    Ke Zhang, J. Gavin Daigle, Kathleen M. Cunningham, Alyssa N. Coyne, Kai Ruan, Jonathan C. Grima, Kelly Bowen, Harsh Wadhwa, Peiguo Yang, Frank Rigo et al. · 2018 · Cell
  11. Targeting protein aggregation for the treatment of degenerative diseases
    Yvonne S. Eisele, Cecília Monteiro, Colleen Fearns, Sandra E. Encalada, R. Luke Wiseman, Evan T. Powers, Jeffery W. Kelly · 2015 · Nature Reviews Drug Discovery
  12. Frontotemporal dementia
    Olney, Nicholas T., Spina, Salvatore, Miller, Bruce L. · 2017 · Neurologic Clinics
  13. Poly(GR) in C9ORF72 -Related ALS/FTD Compromises Mitochondrial Function and Increases Oxidative Stress and DNA Damage in iPSC-Derived Motor Neurons
    Rodrigo Lopez-Gonzalez, Yubing Lu, Tania F. Gendron, Anna Karydas, Hélène Tran, Dejun Yang, Leonard Petrucelli, Bruce L. Miller, Sandra Almeida, Fen‐Biao Gao · 2016 · Neuron
  14. A clinicopathological approach to the diagnosis of dementia
    Fanny M. Elahi, Bruce L. Miller · 2017 · Nature Reviews Neurology
  15. Advances in understanding the molecular basis of frontotemporal dementia
    Rosa Rademakers, Manuela Neumann, Ian R. Mackenzie · 2012 · Nature Reviews Neurology
  16. 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 R. Jansen‐West, Aishe Kurti, Melissa Erin Murray et al. · 2015 · Science
  17. Neuroimaging signatures of frontotemporal dementia genetics: C9ORF72, tau, progranulin and sporadics
    Whitwell, J. L., Weigand, S. D., Boeve, B. F., Senjem, M. L., Gunter, J. L., DeJesus-Hernandez, M., Rutherford, N. J., Baker, M., Knopman, D. S., Wszolek, Z. K. et al. · 2012 · Brain
  18. In Situ Structure of Neuronal C9orf72 Poly-GA Aggregates Reveals Proteasome Recruitment
    Qiang Guo, Carina Lehmer, Antonio Martínez-Sánchez, Till Rudack, Florian Beck, Hannelore Hartmann, Manuela Pérez‐Berlanga, Frédéric Frottin, Mark S. Hipp, F. Ulrich Hartl et al. · 2018 · Cell
  19. The C9orf72 protein interacts with Rab1a and the ULK1 complex to regulate initiation of autophagy
    Webster, Christopher P, Smith, Emma F, Bauer, Claudia S, Moller, Annekathrin, Hautbergue, Guillaume M, Ferraiuolo, Laura, Myszczynska, Monika A, Higginbottom, Adrian, Walsh, Matthew J, Whitworth, Alexander J et al. · 2016 · The EMBO Journal
  20. The genetics and neuropathology of amyotrophic lateral sclerosis
    Ammar Al‐Chalabi, Ashley Jones, Claire Troakes, Andrew King, Safa Al‐Sarraj, Leonard H. van den Berg · 2012 · Acta Neuropathologica
  21. Distinct brain transcriptome profiles in C9orf72-associated and sporadic ALS
    Mercedes Prudencio, Véronique Belzil, Ranjan Batra, Christian A Ross, Tania F. Gendron, Luc Pregent, Melissa Erin Murray, Karen Overstreet, Amelia Johnston, Pamela Desaro et al. · 2015 · Nature Neuroscience
  22. ALS Genetics: Gains, Losses, and Implications for Future Therapies
    Kim, Garam, Gautier, Olivia, Tassoni-Tsuchida, Eduardo, Ma, X. Rosa, Gitler, Aaron D. · 2020 · Neuron
  23. Using Exome Sequencing to Reveal Mutations in TREM2 Presenting as a Frontotemporal Dementia–like Syndrome Without Bone Involvement
    Guerreiro, Rita João, Lohmann, Ebba, Brás, José Miguel, Gibbs, Jesse Raphael, Rohrer, Jonathan D., Gurunlian, Nicole, Dursun, Burcu, Bilgic, Basar, Hanagasi, Hasmet, Gurvit, Hakan et al. · 2013 · JAMA Neurology
  24. Amyotrophic lateral sclerosis: moving towards a new classification system
    Al-Chalabi, Ammar, Hardiman, Orla, Kiernan, Matthew C, Chiò, Adriano, Rix-Brooks, Benjamin, van den Berg, Leonard H · 2016 · The Lancet Neurology
  25. Immune dysregulation in amyotrophic lateral sclerosis: mechanisms and emerging therapies
    David R. Beers, Stanley H. Appel · 2019 · The Lancet Neurology
  26. Frontotemporal dementia and its subtypes: a genome-wide association study
    Ferrari, Raffaele, Hernandez, Dena G, Nalls, Michael A, Rohrer, Jonathan D, Ramasamy, Adaikalavan, Kwok, John B J, Dobson-Stone, Carol, Brooks, William S, Schofield, Peter R, Halliday, Glenda M et al. · 2014 · The Lancet Neurology
  27. Molecular neuropathology of frontotemporal dementia: insights into disease mechanisms from postmortem studies
    Ian R. Mackenzie, Manuela Neumann · 2016 · Journal of Neurochemistry
  28. C9orf72 BAC Mouse Model with Motor Deficits and Neurodegenerative Features of ALS/FTD
    Yuanjing Liu, Amrutha Pattamatta, Tao Zu, Tammy S. Reid, Olgert Bardhi, David Borchelt, Anthony T. Yachnis, Laura P.W. Ranum · 2016 · Neuron
  29. The frontotemporal dementia-motor neuron disease continuum
    James R. Burrell, Glenda Margaret Halliday, Jillian J. Kril, Lars Matthias Ittner, Jürgen Götz, Matthew C. Kiernan, John R. Hodges · 2016 · The Lancet
  30. The unfolded protein response in neurodegenerative diseases: a neuropathological perspective
    Wiep Scheper, Jeroen J.M. Hoozemans · 2015 · Acta Neuropathologica
  31. Induced Pluripotent Stem Cells and Their Use in Human Models of Disease and Development
    Peter Karagiannis, Kazutoshi Takahashi, Megumu K. Saito, Yoshinori Yoshida, Keisuke Okita, Akira Watanabe, Haruhisa Inoue, Jun K. Yamashita, Masaya Todani, Masato Nakagawa et al. · 2018 · Physiological Reviews
  32. Role of Neuroinflammation in Amyotrophic Lateral Sclerosis: Cellular Mechanisms and Therapeutic Implications
    Liu, Jia, Wang, Fei · 2017 · Frontiers in Immunology
  33. A guide for the diagnosis of rare and undiagnosed disease: beyond the exome
    Shruti Marwaha, Joshua W. Knowles, Euan Angus Ashley · 2022 · Genome Medicine
  34. Discovery of a Biomarker and Lead Small Molecules to Target r(GGGGCC)-Associated Defects in c9FTD/ALS
    Zhaoming Su, Yong‐Jie Zhang, Tania F. Gendron, Peter O. Bauer, Jeannie Chew, Wang-Yong Yang, Erik Fostvedt, Karen R. Jansen‐West, Véronique Belzil, Pamela Desaro et al. · 2014 · Neuron
  35. The genetics of P arkinson's disease: Progress and therapeutic implications
    Andrew Singleton, Matthew James Farrer, Vincenzo Bonifati · 2013 · Movement Disorders
  36. Cysteine Metabolism in Neuronal Redox Homeostasis
    Paul, Bindu D., Sbodio, Juan I., Snyder, Solomon H. · 2018 · Trends in Pharmacological Sciences
  37. TDP-43 Proteinopathy and ALS: Insights into Disease Mechanisms and Therapeutic Targets
    Scotter, Emma L., Chen, Han-Jou, Shaw, Christopher E. · 2015 · Neurotherapeutics
  38. Blood–spinal cord barrier breakdown and pericyte reductions in amyotrophic lateral sclerosis
    Winkler, Ethan A., Sengillo, Jesse D., Sullivan, John S., Henkel, Jenny S., Appel, Stanley H., Zlokovic, Berislav V. · 2013 · Acta Neuropathologica
  39. Antisense Oligonucleotide Therapies for Neurodegenerative Diseases
    Bennett, C. Frank, Krainer, Adrian R., Cleveland, Don W. · 2019 · Annual Review of Neuroscience
  40. Liquid-liquid phase separation in biology: mechanisms, physiological functions and human diseases
    Hong Zhang, Xiong Ji, Pilong Li, Cong Liu, Jizhong Lou, Zheng Wang, Wenyu Wen, Yue Xiao, Mingjie Zhang, Xueliang Zhu · 2020 · Science China Life Sciences
  41. Direct conversion of patient fibroblasts demonstrates non-cell autonomous toxicity of astrocytes to motor neurons in familial and sporadic ALS
    Meyer, Kathrin, Ferraiuolo, Laura, Miranda, Carlos J., Likhite, Shibi, McElroy, Sohyun, Renusch, Samantha, Ditsworth, Dara, Lagier-Tourenne, Clotilde, Smith, Richard A., Ravits, John et al. · 2014 · Proceedings of the National Academy of Sciences
  42. Large C9orf72 Hexanucleotide Repeat Expansions Are Seen in Multiple Neurodegenerative Syndromes and Are More Frequent Than Expected in the UK Population
    Beck, Jon, Poulter, Mark, Hensman, Davina, Rohrer, Jonathan D., Mahoney, Colin J., Adamson, Gary, Campbell, Tracy, Uphill, James, Borg, Aaron, Fratta, Pietro et al. · 2013 · The American Journal of Human Genetics
  43. C9orf72 suppresses systemic and neural inflammation induced by gut bacteria
    Burberry, Aaron, Wells, Michael F., Limone, Francesco, Couto, Alexander, Smith, Kevin S., Keaney, James, Gillet, Gaëlle, van Gastel, Nick, Wang, Jin-Yuan, Pietilainen, Olli et al. · 2020 · Nature
  44. Immune Signaling in Neurodegeneration
    Hammond, Timothy R., Marsh, Samuel E., Stevens, Beth · 2019 · Immunity
  45. Genetics of dementia
    Loy, Clement T, Schofield, Peter R, Turner, Anne M, Kwok, John BJ · 2014 · The Lancet
  46. Protein Quality Control by Molecular Chaperones in Neurodegeneration
    Aaron J. Ciechanover, Yong Tae Kwon · 2017 · Frontiers in Neuroscience
  47. Dipeptide repeat protein pathology in C9ORF72 mutation cases: clinico-pathological correlations
    Mackenzie, Ian R., Arzberger, Thomas, Kremmer, Elisabeth, Troost, Dirk, Lorenzl, Stefan, Mori, Kohji, Weng, Shih-Ming, Haass, Christian, Kretzschmar, Hans A., Edbauer, Dieter et al. · 2013 · Acta Neuropathologica
  48. Characterization of frontotemporal dementia and/or amyotrophic lateral sclerosis associated with the GGGGCC repeat expansion in C9ORF72
    Bradley F. Boeve, Khrista Boylan, Neill R. Graff‐Radford, Mariely DeJesus‐Hernandez, David S. Knopman, Otto Pedraza, Prashanthi Vemuri, David Thomas Jones, Val J. Lowe, Melissa Erin Murray et al. · 2012 · Brain
  49. hnRNP A3 binds to GGGGCC repeats and is a constituent of p62-positive/TDP43-negative inclusions in the hippocampus of patients with C9orf72 mutations
    Kohji Mori, Sven Lammich, Ian R. Mackenzie, Ignasi Forné, Sonja Zilow, Hans A. Kretzschmar, Dieter Edbauer, Jonathan Janssens, Gernot Kleinberger, Marc Cruts et al. · 2013 · Acta Neuropathologica
  50. Evidence for an oligogenic basis of amyotrophic lateral sclerosis
    Marka van Blitterswijk, Michael A. van Es, Eric A. M. Hennekam, Dennis Dooijes, Wouter van Rheenen, Jelena Medic, Pierre Raymond Bourque, Helenius Jurgen Schelhaas, Anneke J. van der Kooi, Marianne de Visser et al. · 2012 · Human Molecular Genetics
  51. Motor neuron vulnerability and resistance in amyotrophic lateral sclerosis
    Jik Nijssen, Laura Helen Comley, Eva Hedlund · 2017 · Acta Neuropathologica
  52. Expanded GGGGCC repeat RNA associated with amyotrophic lateral sclerosis and frontotemporal dementia causes neurodegeneration
    Zihui Xu, Mickaël Poidevin, Xuekun Li, Yujing Li, Liqi Shu, David Lee Nelson, He Li, Chadwick M. Hales, Marla Gearing, Thomas S. Wingo et al. · 2013 · Proceedings of the National Academy of Sciences
  53. TBK1: a new player in ALS linking autophagy and neuroinflammation
    Oakes, James A., Davies, Maria C., Collins, Mark O. · 2017 · Molecular Brain
  54. Aggregation-prone c9FTD/ALS poly(GA) RAN-translated proteins cause neurotoxicity by inducing ER stress
    Yong‐Jie Zhang, Karen R. Jansen‐West, Ya-Fei Xu, Tania F. Gendron, Kevin F. Bieniek, Wen-Lang Lin, Hiroki Sasaguri, Thomas R. Caulfield, Jaime Hubbard, Lillian M. Daughrity et al. · 2014 · Acta Neuropathologica
  55. Genetic variation and the de novo assembly of human genomes
    Mark Chaisson, Richard K. Wilson, Evan E. Eichler · 2015 · Nature Reviews Genetics
  56. C9orf72 hexanucleotide repeat associated with amyotrophic lateral sclerosis and frontotemporal dementia forms RNA G-quadruplexes
    Pietro Fratta, Sarah Mizielinska, Andrew J. Nicoll, Mire Zloh, Elizabeth Fisher, Gary Nigel Parkinson, Adrian M. Isaacs · 2012 · Scientific Reports
  57. Loss of function of C9orf72 causes motor deficits in a zebrafish model of amyotrophic lateral sclerosis
    Ciura, Sorana, Lattante, Serena, Le Ber, Isabelle, Latouche, Morwena, Tostivint, Hervé, Brice, Alexis, Kabashi, Edor · 2013 · Annals of Neurology
  58. Clinico-pathological features in amyotrophic lateral sclerosis with expansions in C9ORF72
    Johnathan Cooper‐Knock, Christopher Hewitt, J. Robin Highley, Alice Brockington, Antonio Milano, Somai Man, Joanne E. Martindale, Judith A. Hartley, Theresa Walsh, Catherine Gelsthorpe et al. · 2012 · Brain
  59. Muscleblind-like 2-Mediated Alternative Splicing in the Developing Brain and Dysregulation in Myotonic Dystrophy
    Konstantinos Charizanis, Kuang-Yung Lee, Ranjan Batra, Marianne Goodwin, Chaolin Zhang, Yuan Yuan, Lily Shiue, Melissa Cline, Marina M. Scotti, Guangbin Xia et al. · 2012 · Neuron
  60. The product of C9orf72, a gene strongly implicated in neurodegeneration, is structurally related to DENN Rab-GEFs
    Levine, Timothy P., Daniels, Rachel D., Gatta, Alberto T., Wong, Louise H., Hayes, Matthew J. · 2013 · Bioinformatics
  61. 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 · 2013 · Acta Neuropathologica
  62. Expansion of Human-Specific GGC Repeat in Neuronal Intranuclear Inclusion Disease-Related Disorders
    Yun Tian, Junling Wang, Wen Huang, Sheng Zeng, Bin Jiao, Zhen Liu, Chen Ning Zhao, Yujing Li, Ying Xiang Wang, Haoxuan Min et al. · 2019 · The American Journal of Human Genetics
  63. Genetics of amyotrophic lateral sclerosis: an update
    Sheng Chen, Pavani Sayana, Xiaojie Zhang, Weidong Le · 2013 · Molecular Neurodegeneration
  64. Clinical perspective on oxidative stress in sporadic amyotrophic lateral sclerosis
    Emanuele D’Amico, Pam R Factor-Litvak, Regina M. Santella, Hiroshi Mitsumoto · 2013 · Free Radical Biology and Medicine
  65. Inflammation in ALS/FTD pathogenesis
    McCauley, Madelyn E., Baloh, Robert H. · 2019 · Acta Neuropathologica
  66. Expansions of intronic TTTCA and TTTTA repeats in benign adult familial myoclonic epilepsy
    Hiroyuki Ishiura, Koichiro Doi, Jun Mitsui, Jun Yoshimura, Miho Kawabe Matsukawa, Asao Fujiyama, Yasuko Toyoshima, Akiyoshi Kakita, Hitoshi Takahashi, Yutaka Suzuki et al. · 2018 · Nature Genetics
  67. Modeling key pathological features of frontotemporal dementia with C9ORF72 repeat expansion in iPSC-derived human neurons
    Almeida, Sandra, Gascon, Eduardo, Tran, Hélène, Chou, Hsin Jung, Gendron, Tania F., DeGroot, Steven, Tapper, Andrew R., Sellier, Chantal, Charlet-Berguerand, Nicolas, Karydas, Anna et al. · 2013 · Acta Neuropathologica
  68. The epidemiology of amyotrophic lateral sclerosis
    2016 · Handbook of Clinical Neurology
  69. 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 et al. · 2014 · Brain
  70. Drosophila as an In Vivo Model for Human Neurodegenerative Disease
    Leeanne McGurk, Amit Berson, Nancy M. Bonini · 2015 · Genetics
  71. Emerging mechanisms of molecular pathology in ALS
    Owen M. Peters, Mehdi Ghasemi, Robert H. Brown · 2015 · Journal of Clinical Investigation
  72. The Emerging Role of RNA as a Therapeutic Target for Small Molecules
    Colleen M. Connelly, Michelle H. Moon, John S. Schneekloth · 2016 · Cell chemical biology
  73. C9orf72 in myeloid cells suppresses STING-induced inflammation
    McCauley, Madelyn E., O’Rourke, Jacqueline Gire, Yáñez, Alberto, Markman, Janet L., Ho, Ritchie, Wang, Xinchen, Chen, Shuang, Lall, Deepti, Jin, Mengyao, Muhammad, A. K. M. G. et al. · 2020 · Nature
  74. Mutant SOD1 mediated pathogenesis of Amyotrophic Lateral Sclerosis
    Simran Jeet Kaur, STEPHANIE R. McKEOWN, Shazia Rashid · 2015 · Gene
  75. Clinical Spectrum of Amyotrophic Lateral Sclerosis (ALS)
    Leslie I. Grad, Guy Armand Rouleau, John Ravits, Neil R. Cashman · 2016 · Cold Spring Harbor Perspectives in Medicine
  76. Neurofilaments in the diagnosis of motoneuron diseases: a prospective study on 455 patients
    Petra Steinacker, Emily Feneberg, Jochen Hans Weishaupt, Johannes Brettschneider, Hayrettin Tumani, Peter Munch Andersen, Christine A. F. Von Arnim, Sarah Böhm, Jan Kassubek, Christian Kubisch et al. · 2015 · Journal of Neurology Neurosurgery & Psychiatry
  77. Amyotrophic Lateral Sclerosis: An Update for 2018
    Björn Oskarsson, Tania F. Gendron, Nathan P. Staff · 2018 · Mayo Clinic Proceedings
  78. Reduced C9orf72 gene expression in c9FTD/ALS is caused by histone trimethylation, an epigenetic event detectable in blood
    V. Belzil, P. Bauer, M. Prudencio, Tania F. Gendron, Caroline T. Stetler, Irene K. Yan, L. Pregent, Lillian M. Daughrity, M. Baker, R. Rademakers et al. · 2013 · Acta Neuropathologica
  79. C9ORF72 poly(GA) aggregates sequester and impair HR23 and nucleocytoplasmic transport proteins
    Yong‐Jie Zhang, Tania F. Gendron, Jonathan C. Grima, Hiroki Sasaguri, Karen R. Jansen‐West, Ya-Fei Xu, Rebecca B. Katzman, Jennifer M. Gass, Melissa Erin Murray, Mitsuru Shinohara et al. · 2016 · Nature Neuroscience
  80. The Disease-associated r(GGGGCC) Repeat from the C9orf72 Gene Forms Tract Length-dependent Uni- and Multimolecular RNA G-quadruplex Structures
    Kaalak Reddy, Bita Zamiri, Sabrina Y. Stanley, Robert B. Macgregor, Christopher E. Pearson · 2013 · Journal of Biological Chemistry
  81. Whole-genome sequencing reveals important role for TBK1 and OPTN mutations in frontotemporal lobar degeneration without motor neuron disease
    Pottier, Cyril, Bieniek, Kevin F., Finch, NiCole, van de Vorst, Maartje, Baker, Matt, Perkersen, Ralph, Brown, Patricia, Ravenscroft, Thomas, van Blitterswijk, Marka, Nicholson, Alexandra M. et al. · 2015 · Acta Neuropathologica
  82. 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 et al. · 2014 · Acta Neuropathologica
  83. Sequential distribution of pTDP-43 pathology in behavioral variant frontotemporal dementia (bvFTD)
    Johannes Brettschneider, Kelly Del Tredici, David John Irwin, Murray Grossman, John L. Robinson, Jon B. Toledo, Lubin Fang, Vivianna M. Van Deerlin, Albert Christian Ludolph, Virginia M.‐Y. Lee et al. · 2014 · Acta Neuropathologica
  84. The ALS/FTLD associated protein C9orf72 associates with SMCR8 and WDR41 to regulate the autophagy-lysosome pathway
    Sullivan, Peter M., Zhou, Xiaolai, Robins, Adam M., Paushter, Daniel H., Kim, Dongsung, Smolka, Marcus B., Hu, Fenghua · 2016 · Acta Neuropathologica Communications
  85. Use of Caenorhabditis elegans as a model to study Alzheimer’s disease and other neurodegenerative diseases
    Alexander, Adanna G., Marfil, Vanessa, Li, Chris · 2014 · Frontiers in Genetics
  86. Modeling ALS with motor neurons derived from human induced pluripotent stem cells
    Sances, Samuel, Bruijn, Lucie I, Chandran, Siddharthan, Eggan, Kevin, Ho, Ritchie, Klim, Joseph R, Livesey, Matt R, Lowry, Emily, Macklis, Jeffrey D, Rushton, David et al. · 2016 · Nature Neuroscience
  87. The identity and function of microglia in neurodegeneration
    Song, Wilbur M., Colonna, Marco · 2018 · Nature Immunology
  88. ALS Genes in the Genomic Era and their Implications for FTD
    Hung Phuoc Nguyen, Christine Van Broeckhoven, Julie van der Zee · 2018 · Trends in Genetics
  89. Cerebrospinal fluid and blood biomarkers for neurodegenerative dementias: An update of the Consensus of the Task Force on Biological Markers in Psychiatry of the World Federation of Societies of Biological Psychiatry
    Piotr Lewczuk, Peter Franz Riederer, Sid E. O’Bryant, Marcel M. Verbeek, Bruno Dubois, Pieter Jelle Visser, K. A. Jellinger, Sebastiaan Engelborghs, Alfredo Ramı́rez, Lucilla Parnetti et al. · 2017 · The World Journal of Biological Psychiatry
  90. 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 Ebbert, Aliesha D. O’Raw, Mei Yue, Karen R. Jansen‐West, Xu Zhang, Mercedes Prudencio, Jeannie Chew, Casey N. Cook et al. · 2018 · Nature Medicine
  91. G4‐associated human diseases
    Nancy Maizels · 2015 · EMBO Reports
  92. EPHA4 is a disease modifier of amyotrophic lateral sclerosis in animal models and in humans
    Annelies Van Hoecke, Lies Schoonaert, Robin Lemmens, Mieke Timmers, Kim A. Staats, Angela S. Laird, Elke Peeters, Thomas Philips, An Goris, Bénédicte Dubois et al. · 2012 · Nature Medicine
  93. EFNS‐ENS Guidelines on the diagnosis and management of disorders associated with dementia
    Sandro Sorbi, Jakub Hort, Timo Erkinjuntti, Tormod Fladby, Guido Gainotti, Hakan I. Gurvit, Benedetta Nacmias, Florence Pasquier, Bogdan Ovidiu Popescu, Irena Rektorová et al. · 2012 · European Journal of Neurology
  94. Immune-mediated Mechanisms in the Pathoprogression of Amyotrophic Lateral Sclerosis
    Weihua Zhao, David R. Beers, Stanley H. Appel · 2013 · Journal of Neuroimmune Pharmacology
  95. C9orf72 BAC Transgenic Mice Display Typical Pathologic Features of ALS/FTD
    O’Rourke, Jacqueline G., Bogdanik, Laurent, Muhammad, A.K.M.G., Gendron, Tania F., Kim, Kevin J., Austin, Andrew, Cady, Janet, Liu, Elaine Y., Zarrow, Jonah, Grant, Sharday et al. · 2015 · Neuron
  96. Neuroinflammation in frontotemporal dementia
    Bright, Fiona, Werry, Eryn L., Dobson-Stone, Carol, Piguet, Olivier, Ittner, Lars M., Halliday, Glenda M., Hodges, John R., Kiernan, Matthew C., Loy, Clement T., Kassiou, Michael et al. · 2019 · Nature Reviews Neurology
  97. Rodent Models of Amyotrophic Lateral Sclerosis
    Thomas Philips, Jeffrey D. Rothstein · 2015 · Current Protocols in Pharmacology
  98. Human iPSC-derived motoneurons harbouring TARDBP or C9ORF72 ALS mutations are dysfunctional despite maintaining viability
    Anna‐Claire Devlin, Karen Burr, Shyamanga Borooah, Joshua D. Foster, Elaine M. Cleary, Imbisaat Geti, Ludovic Vallier, Christopher E. Shaw, Siddharthan Chandran, Gareth Brian Miles · 2015 · Nature Communications
  99. Clinical and neuropathologic heterogeneity of c9FTD/ALS associated with hexanucleotide repeat expansion in C9ORF72
    Melissa Erin Murray, Mariely DeJesus‐Hernandez, Nicola J. Rutherford, Matt C. Baker, Ranjan Duara, Neill R. Graff‐Radford, Zbigniew K. Wszołek, Tanis J. Ferman, Keith A. Josephs, Khrista Boylan et al. · 2011 · Acta Neuropathologica
  100. Incomplete Penetrance and Variable Expressivity: From Clinical Studies to Population Cohorts
    Rebecca Kingdom, Caroline Fiona Wright · 2022 · Frontiers in Genetics