| Publication |
Sentence |
Publish Date |
Extraction Date |
Species |
| Micaela Fredi, Ilaria Cavazzana, Giorgio Biasiotto, Massimiliano Filosto, Alessandro Padovani, Eugenio Monti, Angela Tincani, Franco Franceschini, Isabella Zanell. C9orf72 Intermediate Alleles in Patients with Amyotrophic Lateral Sclerosis, Systemic Lupus Erythematosus, and Rheumatoid Arthritis. Neuromolecular medicine. vol 21. issue 2. 2021-02-01. PMID:30859373. |
the commonest genetic cause of amyotrophic lateral sclerosis (als) and frontotemporal dementia (ftd) is a large hexanucleotide expansion within the non-coding region of the c9orf72 gene. |
2021-02-01 |
2023-08-13 |
Not clear |
| Francesca Caso, Federica Agosta, Giuseppe Magnani, Rosalinda Cardamone, Valentina Borghesani, Zachary Miller, Nilo Riva, Renaud La Joie, Giovanni Coppola, Lea T Grinberg, William W Seeley, Bruce L Miller, Maria Luisa Gorno-Tempini, Massimo Filipp. Temporal variant of frontotemporal dementia in C9orf72 repeat expansion carriers: two case studies. Brain imaging and behavior. vol 14. issue 2. 2021-01-04. PMID:32180125. |
temporal variant of frontotemporal dementia in c9orf72 repeat expansion carriers: two case studies. |
2021-01-04 |
2023-08-13 |
Not clear |
| Adam M Staffaroni, Sheng-Yang M Goh, Yann Cobigo, Elise Ong, Suzee E Lee, Kaitlin B Casaletto, Amy Wolf, Leah K Forsberg, Nupur Ghoshal, Neill R Graff-Radford, Murray Grossman, Hilary W Heuer, Ging-Yuek R Hsiung, Kejal Kantarci, David S Knopman, Walter K Kremers, Ian R Mackenzie, Bruce L Miller, Otto Pedraza, Katya Rascovsky, M Carmela Tartaglia, Zbigniew K Wszolek, Joel H Kramer, John Kornak, Bradley F Boeve, Adam L Boxer, Howard J Rose. Rates of Brain Atrophy Across Disease Stages in Familial Frontotemporal Dementia Associated With MAPT, GRN, and C9orf72 Pathogenic Variants. JAMA network open. vol 3. issue 10. 2021-01-04. PMID:33112398. |
rates of brain atrophy across disease stages in familial frontotemporal dementia associated with mapt, grn, and c9orf72 pathogenic variants. |
2021-01-04 |
2023-08-13 |
Not clear |
| Delia Gagliardi, Gianluca Costamagna, Michela Taiana, Luca Andreoli, Fabio Biella, Margherita Bersani, Nereo Bresolin, Giacomo Pietro Comi, Stefania Cort. Insights into disease mechanisms and potential therapeutics for C9orf72-related amyotrophic lateral sclerosis/frontotemporal dementia. Ageing research reviews. vol 64. 2020-12-30. PMID:32971256. |
in 2011, a hexanucleotide repeat expansion (hre) in the noncoding region of c9orf72 was associated with the most frequent genetic cause of frontotemporal dementia (ftd) and amyotrophic lateral sclerosis (als). |
2020-12-30 |
2023-08-13 |
Not clear |
| Bahram Khosravi, Kathrine D LaClair, Henrick Riemenschneider, Qihui Zhou, Frédéric Frottin, Nikola Mareljic, Mareike Czuppa, Daniel Farny, Hannelore Hartmann, Meike Michaelsen, Thomas Arzberger, F Ulrich Hartl, Mark S Hipp, Dieter Edbaue. Cell-to-cell transmission of C9orf72 poly-(Gly-Ala) triggers key features of ALS/FTD. The EMBO journal. vol 39. issue 8. 2020-12-14. PMID:32175624. |
the c9orf72 repeat expansion causes amyotrophic lateral sclerosis and frontotemporal dementia, but the poor correlation between c9orf72-specific pathology and tdp-43 pathology linked to neurodegeneration hinders targeted therapeutic development. |
2020-12-14 |
2023-08-13 |
mouse |
| Alyssa N Coyne, Benjamin L Zaepfel, Lindsey Hayes, Boris Fitchman, Yuval Salzberg, En-Ching Luo, Kelly Bowen, Hannah Trost, Stefan Aigner, Frank Rigo, Gene W Yeo, Amnon Harel, Clive N Svendsen, Dhruv Sareen, Jeffrey D Rothstei. G Neuron. vol 107. issue 6. 2020-11-20. PMID:32673563. |
g through mechanisms that remain poorly defined, defects in nucleocytoplasmic transport and accumulations of specific nuclear-pore-complex-associated proteins have been reported in multiple neurodegenerative diseases, including c9orf72 amyotrophic lateral sclerosis and frontotemporal dementia (als/ftd). |
2020-11-20 |
2023-08-13 |
Not clear |
| Joni Vanneste, Thomas Vercruysse, Steven Boeynaems, Adria Sicart, Philip Van Damme, Dirk Daelemans, Ludo Van Den Bosc. C9orf72-generated poly-GR and poly-PR do not directly interfere with nucleocytoplasmic transport. Scientific reports. vol 9. issue 1. 2020-11-03. PMID:31673013. |
repeat expansions in the c9orf72 gene cause amyotrophic lateral sclerosis and frontotemporal dementia characterized by dipeptide-repeat protein (dpr) inclusions. |
2020-11-03 |
2023-08-13 |
Not clear |
| Veronica Porterfield, Shahzad S Khan, Erin P Foff, Mehmet Murat Koseoglu, Isabella K Blanco, Sruthi Jayaraman, Eric Lien, Michael J McConnell, George S Bloom, John S Lazo, Elizabeth R Sharlo. A three-dimensional dementia model reveals spontaneous cell cycle re-entry and a senescence-associated secretory phenotype. Neurobiology of aging. vol 90. 2020-10-29. PMID:32184029. |
a hexanucleotide repeat expansion on chromosome 9 open reading frame 72 (c9orf72) is associated with familial amyotrophic lateral sclerosis (als) and a subpopulation of patients with sporadic als and frontotemporal dementia. |
2020-10-29 |
2023-08-13 |
Not clear |
| Manon Boivin, Véronique Pfister, Angeline Gaucherot, Frank Ruffenach, Luc Negroni, Chantal Sellier, Nicolas Charlet-Bergueran. Reduced autophagy upon C9ORF72 loss synergizes with dipeptide repeat protein toxicity in G4C2 repeat expansion disorders. The EMBO journal. vol 39. issue 4. 2020-10-28. PMID:31930538. |
expansion of g4c2 repeats within the c9orf72 gene is the most common cause of amyotrophic lateral sclerosis (als) and frontotemporal dementia (ftd). |
2020-10-28 |
2023-08-13 |
Not clear |
| Zachary T McEachin, Tania F Gendron, Nisha Raj, María García-Murias, Anwesha Banerjee, Ryan H Purcell, Patricia J Ward, Tiffany W Todd, Megan E Merritt-Garza, Karen Jansen-West, Chadwick M Hales, Tania García-Sobrino, Beatriz Quintáns, Christopher J Holler, Georgia Taylor, Beatriz San Millán, Susana Teijeira, Toru Yamashita, Ryuichi Ohkubo, Nicholas M Boulis, Chongchong Xu, Zhexing Wen, Nathalie Streichenberger, Brent L Fogel, Thomas Kukar, Koji Abe, Dennis W Dickson, Manuel Arias, Jonathan D Glass, Jie Jiang, Malú G Tansey, María-Jesús Sobrido, Leonard Petrucelli, Wilfried Rossoll, Gary J Bassel. Chimeric Peptide Species Contribute to Divergent Dipeptide Repeat Pathology in c9ALS/FTD and SCA36. Neuron. vol 107. issue 2. 2020-10-19. PMID:32375063. |
ggggcc hexanucleotide repeat expansions (hres) in c9orf72 cause amyotrophic lateral sclerosis (als) and frontotemporal dementia (ftd) and lead to the production of aggregating dipeptide repeat proteins (dprs) via repeat associated non-aug (ran) translation. |
2020-10-19 |
2023-08-13 |
Not clear |
| Gabriella Le Blanc, Vincent Jetté Pomerleau, Jillian McCarthy, Barbara Borroni, John van Swieten, Daniela Galimberti, Raquel Sanchez-Valle, Robert LaForce, Fermin Moreno, Matthis Synofzik, Caroline Graff, Mario Masellis, Maria C Tartaglia, James B Rowe, Rik Vandenberghe, Elizabeth Finger, Fabrizio Tagliavini, Alexandre de Mendonça, Isabel Santana, Chris Butler, Alex Gerhard, Adrian Danek, Johannes Levin, Markus Otto, Giovanni Frisoni, Sandro Sorbi, Jonathan D Rohrer, Simon Ducharm. Faster Cortical Thinning and Surface Area Loss in Presymptomatic and Symptomatic C9orf72 Repeat Expansion Adult Carriers. Annals of neurology. vol 88. issue 1. 2020-10-13. PMID:32285980. |
c9orf72 expansion is the most common genetic cause of frontotemporal dementia (ftd). |
2020-10-13 |
2023-08-13 |
Not clear |
| Alan S Premasiri, Anna L Gill, Fernando G Vieir. Type I PRMT Inhibition Protects Against C9ORF72 Arginine-Rich Dipeptide Repeat Toxicity. Frontiers in pharmacology. vol 11. 2020-10-06. PMID:33013410. |
repeat expansion mutations in the c9orf72 gene are the most common genetic cause of amyotrophic lateral sclerosis (als) and frontotemporal dementia (ftd). |
2020-10-06 |
2023-08-13 |
Not clear |
| Mona Radwan, Jordan D Lilley, Ching-Seng Ang, Gavin E Reid, Danny M Hatter. Immiscible inclusion bodies formed by polyglutamine and poly(glycine-alanine) are enriched with distinct proteomes but converge in proteins that are risk factors for disease and involved in protein degradation. PloS one. vol 15. issue 8. 2020-10-01. PMID:32857759. |
poly(glycine-alanine) (polyga) is one of the polydipeptides expressed in frontotemporal dementia and/or amyotrophic lateral sclerosis 1 caused by c9orf72 mutations and accumulates as inclusion bodies in the brain of patients. |
2020-10-01 |
2023-08-13 |
Not clear |
| Melissa Nassif, Ute Woehlbier, Patricio A Manqu. The Enigmatic Role of C9ORF72 in Autophagy. Frontiers in neuroscience. vol 11. 2020-09-30. PMID:28824365. |
advances in large-scale genetics and genomics have revealed intronic hexanucleotide repeat expansions in the gene encoding c9orf72 as a main genetic cause of als and frontotemporal dementia (ftd), the second most common cause of early-onset dementia after alzheimer's disease. |
2020-09-30 |
2023-08-13 |
Not clear |
| Raygene Martier, Jolanda M Liefhebber, Ana García-Osta, Jana Miniarikova, Mar Cuadrado-Tejedor, Maria Espelosin, Susana Ursua, Harald Petry, Sander J van Deventer, Melvin M Evers, Pavlina Konstantinov. Targeting RNA-Mediated Toxicity in C9orf72 ALS and/or FTD by RNAi-Based Gene Therapy. Molecular therapy. Nucleic acids. vol 16. 2020-09-28. PMID:30825670. |
a hexanucleotide ggggcc expansion in intron 1 of chromosome 9 open reading frame 72 (c9orf72) gene is the most frequent cause of amyotrophic lateral sclerosis (als) and frontotemporal dementia (ftd). |
2020-09-28 |
2023-08-13 |
mouse |
| Javier Morón-Oset, Tessa Supèr, Jacqueline Esser, Adrian M Isaacs, Sebastian Grönke, Linda Partridg. Glycine-alanine dipeptide repeats spread rapidly in a repeat length- and age-dependent manner in the fly brain. Acta neuropathologica communications. vol 7. issue 1. 2020-09-25. PMID:31843021. |
hexanucleotide repeat expansions of variable size in c9orf72 are the most prevalent genetic cause of amyotrophic lateral sclerosis and frontotemporal dementia. |
2020-09-25 |
2023-08-13 |
Not clear |
| P Gami-Patel, I van Dijken, J C van Swieten, Y A L Pijnenburg, A J M Rozemuller, J J M Hoozemans, A A Dijkstr. Von Economo neurons are part of a larger neuronal population that are selectively vulnerable in C9orf72 frontotemporal dementia. Neuropathology and applied neurobiology. vol 45. issue 7. 2020-08-24. PMID:31066065. |
von economo neurons are part of a larger neuronal population that are selectively vulnerable in c9orf72 frontotemporal dementia. |
2020-08-24 |
2023-08-13 |
Not clear |
| P Gami-Patel, I van Dijken, J C van Swieten, Y A L Pijnenburg, A J M Rozemuller, J J M Hoozemans, A A Dijkstr. Von Economo neurons are part of a larger neuronal population that are selectively vulnerable in C9orf72 frontotemporal dementia. Neuropathology and applied neurobiology. vol 45. issue 7. 2020-08-24. PMID:31066065. |
the behavioural variant of frontotemporal dementia with a c9orf72 expansion (c9-bvftd) is characterised by early changes in social-emotional cognition that are linked to the loss of von economo neurons (vens). |
2020-08-24 |
2023-08-13 |
Not clear |
| Jie Jiang, John Ravit. Pathogenic Mechanisms and Therapy Development for C9orf72 Amyotrophic Lateral Sclerosis/Frontotemporal Dementia. Neurotherapeutics : the journal of the American Society for Experimental NeuroTherapeutics. vol 16. issue 4. 2020-08-24. PMID:31667754. |
in 2011, a hexanucleotide repeat expansion in the first intron of the c9orf72 gene was identified as the most common genetic cause of amyotrophic lateral sclerosis (als) and frontotemporal dementia (ftd). |
2020-08-24 |
2023-08-13 |
human |
| Hiroaki Suzuki, Yoshio Shibagaki, Seisuke Hattori, Masaaki Matsuok. C9-ALS/FTD-linked proline-arginine dipeptide repeat protein associates with paraspeckle components and increases paraspeckle formation. Cell death & disease. vol 10. issue 10. 2020-08-20. PMID:31582731. |
a ggggcc hexanucleotide repeat expansion in the c9orf72 gene has been identified as the most common genetic cause of amyotrophic lateral sclerosis and frontotemporal dementia. |
2020-08-20 |
2023-08-13 |
Not clear |