Roadmap for C9ORF72 in Frontotemporal Dementia and Amyotrophic Lateral Sclerosis: Report on the C9ORF72 FTD/ALS Summit by Rita Sattler, Bryan J. Traynor, Janice Robertson, Ludo Van Den Bosch, Sami J. Barmada, Clive N. Svendsen, Matthew D. Disney, Tania F. Gendron, Philip C. Wong, Martin R. Turner, Adam Boxer, Suma Babu, Michael Benatar, Michael Kurnellas, Jonathan D. Rohrer, Christopher J. Donnelly, Lynette M. Bustos, Kendall Van Keuren-Jensen, Penny A. Dacks, Marwan N. Sabbagh, Attendees of the inaugural C9ORF72 FTD/ALS Summit

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A comparative bioinformatic analysis of C9orf72 by Shalini Iyer, K. Ravi Acharya, Vasanta Subramanian

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The C9ORF72 repeat expansion alters neurodevelopment by Eric Hendricks, Alicia M. Quihuis, Shu-Ting Hung, Jonathan Chang, Nomongo Dorjsuren, Balint Der, Kim A. Staats, Yingxiao Shi, Naomi S. Sta Maria, Russell E. Jacobs, Justin K. Ichida

“…Pharmacologically mimicking the effects of the repeat expansion on neurodevelopment increases susceptibility of C9ORF72 mice to motor defects. Thus, the C9ORF72 repeat expansion stunts development of the brain regions prominently affected in C9ORF72 FTD/ALS patients.…”
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Moderate intrinsic phenotypic alterations in C9orf72 ALS/FTD iPSC-microglia despite the presence of C9orf72 pathological features by Ileana Lorenzini, Eric Alsop, Jennifer Levy, Lauren M. Gittings, Deepti Lall, Benjamin E. Rabichow, Stephen Moore, Stephen Moore, Ryan Pevey, Ryan Pevey, Lynette M. Bustos, Lynette M. Bustos, Camelia Burciu, Divya Bhatia, Mo Singer, Justin Saul, Amanda McQuade, Amanda McQuade, Amanda McQuade, Makis Tzioras, Makis Tzioras, Thomas A. Mota, Amber Logemann, Jamie Rose, Jamie Rose, Sandra Almeida, Fen-Biao Gao, Michael Marks, Christopher J. Donnelly, Elizabeth Hutchins, Shu-Ting Hung, Justin Ichida, Robert Bowser, Tara Spires-Jones, Tara Spires-Jones, Mathew Blurton-Jones, Mathew Blurton-Jones, Mathew Blurton-Jones, Tania F. Gendron, Tania F. Gendron, Robert H. Baloh, Robert H. Baloh, Kendall Van Keuren-Jensen, Rita Sattler

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C9ORF72 suppresses JAK-STAT mediated inflammation by Weilun Pang, Fenghua Hu

“…C9ORF72 deficiency leads to severe inflammatory phenotypes in mice, but exactly how C9ORF72 regulates inflammation remains to be fully elucidated. …”
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Validated assays for the quantification of C9orf72 human pathology by S. E. Salomonsson, A. M. Maltos, K. Gill, O. Aladesuyi Arogundade, K. A. Brown, A. Sachdev, M. Sckaff, K. J. K. Lam, I. J. Fisher, R. S. Chouhan, V. S. Van Laar, C. B. Marley, I. McLaughlin, K. S. Bankiewicz, Y.-C. Tsai, B. R. Conklin, C. D. Clelland

“…Abstract A repeat expansion mutation in the C9orf72 gene is the leading known genetic cause of FTD and ALS. …”
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Differential response of C9orf72 transcripts following neuronal depolarization by Layla T. Ghaffari, Davide Trotti, Aaron R. Haeusler

“…Summary: The (G4C2)n nucleotide repeat expansion (NRE) mutation in C9orf72 is the most common genetic cause of ALS and FTD. …”
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Breakdown of the central synapses in C9orf72-linked ALS/FTD by Layla T. Ghaffari, Davide Trotti, Aaron R. Haeusler, Brigid K. Jensen

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C9orf72 poly(PR) mediated neurodegeneration is associated with nucleolar stress by M.E. Cicardi, J.H. Hallgren, D. Mawrie, K. Krishnamurthy, S.S. Markandaiah, A.T. Nelson, V. Kankate, E.N. Anderson, P. Pasinelli, U.B. Pandey, C.M. Eischen, D. Trotti

“…Summary: The ALS/FTD-linked intronic hexanucleotide repeat expansion in the C9orf72 gene is aberrantly translated in the sense and antisense directions into dipeptide repeat proteins, among which poly proline-arginine (PR) displays the most aggressive neurotoxicity in-vitro and in-vivo. …”
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Role of C9orf72 hexanucleotide repeat expansions in ALS/FTD pathogenesis by Yanyan Geng, Qixu Cai

Subjects: “…C9orf72…”
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Editorial: Molecular mechanisms underlying C9orf72 neurodegeneration, volume II by Jean-Marc Gallo, Agnes Nishimura, Annakaisa Haapasalo

Subjects: “…C9orf72…”
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CRISPR interference to evaluate modifiers of C9ORF72-mediated toxicity in FTD by Sarah Pickles, Sarah Pickles, Desiree Zanetti Alepuz, Yuka Koike, Mei Yue, Jimei Tong, Pinghu Liu, Yugui Zhou, Karen Jansen-West, Lillian M. Daughrity, Yuping Song, Michael DeTure, Björn Oskarsson, Neill R. Graff-Radford, Bradley F. Boeve, Ronald C. Petersen, Keith A. Josephs, Dennis W. Dickson, Dennis W. Dickson, Dennis W. Dickson, Michael E. Ward, Lijin Dong, Mercedes Prudencio, Mercedes Prudencio, Casey N. Cook, Casey N. Cook, Leonard Petrucelli, Leonard Petrucelli

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Targeted Screening of the C9orf72 Gene in Bulgarian Amyotrophic Lateral Sclerosis Patients by Ormandzhiev S., Todorov T., Angelov T., Chamova T., Mitev V., Todorova A., Tournev I.

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Resting‐state fMRI functional connectome of C9orf72 mutation status by Mario Stanziano, Davide Fedeli, Umberto Manera, Stefania Ferraro, Jean P. Medina Carrion, Sara Palermo, Paola Sciortino, Maurizio Cogoni, Federica Agosta, Silvia Basaia, Massimo Filippi, Marina Grisoli, Maria C. Valentini, Filippo De Mattei, Antonio Canosa, Andrea Calvo, Maria G. Bruzzone, Adriano Chiò, Anna Nigri, Cristina Moglia

“…Methods Here we studied the network‐to‐network connectivity of 19 ALS patients carrying the C9orf72 hexanucleotide repeat expansion (C9orf72+), 19 ALS patients not affected by C9orf72 mutation (C9orf72−), and 19 ALS‐mimic patients (ALSm) well‐matched for demographic and clinical variables. …”
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Intrafamilial Phenotypic Variability in the C9orf72 Gene Expansion: 2 Case Studies by David Foxe, David Foxe, David Foxe, Elle Elan, Elle Elan, James R. Burrell, James R. Burrell, Felicity V. C. Leslie, Emma Devenney, Emma Devenney, John B. Kwok, John B. Kwok, Glenda M. Halliday, Glenda M. Halliday, John R. Hodges, John R. Hodges, Olivier Piguet, Olivier Piguet, Olivier Piguet

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Disease Mechanisms and Therapeutic Approaches in <i>C9orf72</i> ALS-FTD by Keith Mayl, Christopher E. Shaw, Youn-Bok Lee

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Unraveling the impact of disrupted nucleocytoplasmic transport systems in C9orf72-associated ALS by Philip McGoldrick, Janice Robertson, Janice Robertson

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C9orf72-Related Neurodegenerative Diseases: From Clinical Diagnosis to Therapeutic Strategies by Stefania Zampatti, Cristina Peconi, Rosa Campopiano, Stefano Gambardella, Stefano Gambardella, Carlo Caltagirone, Emiliano Giardina, Emiliano Giardina

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Measuring and Interpreting Nuclear Transport in Neurodegenerative Disease—The Example of C9orf72 ALS by Marije F. W. Semmelink, Anton Steen, Liesbeth M. Veenhoff

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C9ORF72 knockdown triggers FTD-like symptoms and cell pathology in mice by Maria-Belen Lopez-Herdoiza, Stephanie Bauché, Baptiste Wilmet, Caroline Le Duigou, Delphine Roussel, Magali Frah, Jonas Béal, Gabin Devely, Susana Boluda, Petra Frick, Delphine Bouteiller, Sébastien Dussaud, Pierre Guillabert, Carine Dalle, Magali Dumont, Agnes Camuzat, Dario Saracino, Mathieu Barbier, Gaelle Bruneteau, Phillippe Ravassard, Manuela Neumann, Manuela Neumann, Sophie Nicole, Isabelle Le Ber, Alexis Brice, Morwena Latouche, Morwena Latouche

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