| Publication |
Sentence |
Publish Date |
Extraction Date |
Species |
| Tsz Hang Wong, Cyril Pottier, David C Hondius, Lieke H H Meeter, Jeroen G J van Rooij, Shami Melhem, Rick van Minkelen, Cornelia M van Duijn, Annemieke J M Rozemuller, Harro Seelaar, Rosa Rademakers, John C van Swiete. Three VCP Mutations in Patients with Frontotemporal Dementia. Journal of Alzheimer's disease : JAD. vol 65. issue 4. 2019-08-26. PMID:30103325. |
we screened a cohort of 48 patients with familial frontotemporal dementia (ftd) negative for mapt, grn, and c9orf72 mutations for other known ftd genes by using whole exome sequencing. |
2019-08-26 |
2023-08-13 |
Not clear |
| Thomas Westergard, Kevin McAvoy, Katelyn Russell, Xinmei Wen, Yu Pang, Brandie Morris, Piera Pasinelli, Davide Trotti, Aaron Haeusle. Repeat-associated non-AUG translation in C9orf72-ALS/FTD is driven by neuronal excitation and stress. EMBO molecular medicine. vol 11. issue 2. 2019-08-06. PMID:30617154. |
here we analyzed whether different cellular stressors promote ran translation of dipeptide repeats (dprs) associated with the g4c2 hexanucleotide expansions in c9orf72, the most common genetic cause of amyotrophic lateral sclerosis (als) and frontotemporal dementia (ftd). |
2019-08-06 |
2023-08-13 |
Not clear |
| Leila Sellami, Martina Bocchetta, Mario Masellis, David M Cash, Katrina M Dick, John van Swieten, Barbara Borroni, Daniela Galimberti, Maria Carmela Tartaglia, James B Rowe, Caroline Graff, Fabrizio Tagliavini, Giovanni Frisoni, Elizabeth Finger, Alexandre de Mendonça, Sandro Sorbi, Jason D Warren, Jonathan D Rohrer, Robert Laforc. Distinct Neuroanatomical Correlates of Neuropsychiatric Symptoms in the Three Main Forms of Genetic Frontotemporal Dementia in the GENFI Cohort. Journal of Alzheimer's disease : JAD. vol 65. issue 1. 2019-07-29. PMID:30010122. |
the overlap between frontotemporal dementia (ftd) and primary psychiatric disorders has been brought to light by reports of prominent neuropsychiatric symptoms (nps) in ftd-related genetic mutations, particularly among c9orf72 and grn carriers. |
2019-07-29 |
2023-08-13 |
Not clear |
| Emma L Clayton, Carmelo Milioto, Bhavana Muralidharan, Frances E Norona, James R Edgar, Armand Soriano, Paymaan Jafar-Nejad, Frank Rigo, John Collinge, Adrian M Isaac. Frontotemporal dementia causative CHMP2B impairs neuronal endolysosomal traffic-rescue by TMEM106B knockdown. Brain : a journal of neurology. vol 141. issue 12. 2019-07-15. PMID:30496365. |
as tmem106b is a risk factor for frontotemporal dementia caused by both c9orf72 and progranulin mutations, and antisense oligonucleotides are showing promise as therapeutics for neurodegenerative diseases, our data suggests a potential new strategy for treating the wide range of frontotemporal dementias associated with endolysosomal dysfunction. |
2019-07-15 |
2023-08-13 |
Not clear |
| Jasna Brcic, Janez Plave. NMR structure of a G-quadruplex formed by four d(G4C2) repeats: insights into structural polymorphism. Nucleic acids research. vol 46. issue 21. 2019-07-08. PMID:30277522. |
most frequent genetic cause of amyotrophic lateral sclerosis (als) and frontotemporal dementia (ftd), is a largely increased number of d(g4c2)n•(g2c4)n repeats located in the non-coding region of c9orf72 gene. |
2019-07-08 |
2023-08-13 |
Not clear |
| Daniel A Solomon, Alan Stepto, Wing Hei Au, Yoshitsugu Adachi, Danielle C Diaper, Rachel Hall, Anjeet Rekhi, Adel Boudi, Paraskevi Tziortzouda, Youn-Bok Lee, Bradley Smith, Jessika C Bridi, Greta Spinelli, Jonah Dearlove, Dickon M Humphrey, Jean-Marc Gallo, Claire Troakes, Manolis Fanto, Matthias Soller, Boris Rogelj, Richard B Parsons, Christopher E Shaw, Tibor Hortobágyi, Frank Hirt. A feedback loop between dipeptide-repeat protein, TDP-43 and karyopherin-α mediates C9orf72-related neurodegeneration. Brain : a journal of neurology. vol 141. issue 10. 2019-07-05. PMID:30239641. |
tdp-43 inclusions also characterize patients with ggggcc (g4c2) hexanucleotide repeat expansion in c9orf72 that causes the most common genetic form of amyotrophic lateral sclerosis and frontotemporal dementia (c9als/ftd). |
2019-07-05 |
2023-08-13 |
drosophila_melanogaster |
| Ming Zhang, Raffaele Ferrari, Maria Carmela Tartaglia, Julia Keith, Ezequiel I Surace, Uri Wolf, Christine Sato, Mark Grinberg, Yan Liang, Zhengrui Xi, Kyle Dupont, Philip McGoldrick, Anna Weichert, Paul M McKeever, Raphael Schneider, Michael D McCorkindale, Claudia Manzoni, Rosa Rademakers, Neill R Graff-Radford, Dennis W Dickson, Joseph E Parisi, Bradley F Boeve, Ronald C Petersen, Bruce L Miller, William W Seeley, John C van Swieten, Jeroen van Rooij, Yolande Pijnenburg, Julie van der Zee, Christine Van Broeckhoven, Isabelle Le Ber, Vivianna Van Deerlin, EunRan Suh, Jonathan D Rohrer, Simon Mead, Caroline Graff, Linn Öijerstedt, Stuart Pickering-Brown, Sara Rollinson, Giacomina Rossi, Fabrizio Tagliavini, William S Brooks, Carol Dobson-Stone, Glenda M Halliday, John R Hodges, Olivier Piguet, Giuliano Binetti, Luisa Benussi, Roberta Ghidoni, Benedetta Nacmias, Sandro Sorbi, Amalia C Bruni, Daniela Galimberti, Elio Scarpini, Innocenzo Rainero, Elisa Rubino, Jordi Clarimon, Alberto Lleó, Agustin Ruiz, Isabel Hernández, Pau Pastor, Monica Diez-Fairen, Barbara Borroni, Florence Pasquier, Vincent Deramecourt, Thibaud Lebouvier, Robert Perneczky, Janine Diehl-Schmid, Jordan Grafman, Edward D Huey, Richard Mayeux, Michael A Nalls, Dena Hernandez, Andrew Singleton, Parastoo Momeni, Zhen Zeng, John Hardy, Janice Robertson, Lorne Zinman, Ekaterina Rogaev. A C6orf10/LOC101929163 locus is associated with age of onset in C9orf72 carriers. Brain : a journal of neurology. vol 141. issue 10. 2019-07-05. PMID:30252044. |
the g4c2-repeat expansion in c9orf72 is the most common known cause of amyotrophic lateral sclerosis and frontotemporal dementia. |
2019-07-05 |
2023-08-13 |
Not clear |
| Ming Zhang, Raffaele Ferrari, Maria Carmela Tartaglia, Julia Keith, Ezequiel I Surace, Uri Wolf, Christine Sato, Mark Grinberg, Yan Liang, Zhengrui Xi, Kyle Dupont, Philip McGoldrick, Anna Weichert, Paul M McKeever, Raphael Schneider, Michael D McCorkindale, Claudia Manzoni, Rosa Rademakers, Neill R Graff-Radford, Dennis W Dickson, Joseph E Parisi, Bradley F Boeve, Ronald C Petersen, Bruce L Miller, William W Seeley, John C van Swieten, Jeroen van Rooij, Yolande Pijnenburg, Julie van der Zee, Christine Van Broeckhoven, Isabelle Le Ber, Vivianna Van Deerlin, EunRan Suh, Jonathan D Rohrer, Simon Mead, Caroline Graff, Linn Öijerstedt, Stuart Pickering-Brown, Sara Rollinson, Giacomina Rossi, Fabrizio Tagliavini, William S Brooks, Carol Dobson-Stone, Glenda M Halliday, John R Hodges, Olivier Piguet, Giuliano Binetti, Luisa Benussi, Roberta Ghidoni, Benedetta Nacmias, Sandro Sorbi, Amalia C Bruni, Daniela Galimberti, Elio Scarpini, Innocenzo Rainero, Elisa Rubino, Jordi Clarimon, Alberto Lleó, Agustin Ruiz, Isabel Hernández, Pau Pastor, Monica Diez-Fairen, Barbara Borroni, Florence Pasquier, Vincent Deramecourt, Thibaud Lebouvier, Robert Perneczky, Janine Diehl-Schmid, Jordan Grafman, Edward D Huey, Richard Mayeux, Michael A Nalls, Dena Hernandez, Andrew Singleton, Parastoo Momeni, Zhen Zeng, John Hardy, Janice Robertson, Lorne Zinman, Ekaterina Rogaev. A C6orf10/LOC101929163 locus is associated with age of onset in C9orf72 carriers. Brain : a journal of neurology. vol 141. issue 10. 2019-07-05. PMID:30252044. |
in addition, we investigated a cohort of c9orf72 negative patients (n = 2634) affected by frontotemporal dementia and/or amyotrophic lateral sclerosis; and also found that the aa-genotype of rs9357140 was associated with a later age of onset (adjusted p = 0.007 for recessive model). |
2019-07-05 |
2023-08-13 |
Not clear |
| So Yoen Choi, Rodrigo Lopez-Gonzalez, Gopinath Krishnan, Hannah L Phillips, Alissa Nana Li, William W Seeley, Wei-Dong Yao, Sandra Almeida, Fen-Biao Ga. C9ORF72-ALS/FTD-associated poly(GR) binds Atp5a1 and compromises mitochondrial function in vivo. Nature neuroscience. vol 22. issue 6. 2019-07-05. PMID:31086314. |
the ggggcc repeat expansion in c9orf72 is the most common genetic cause of amyotrophic lateral sclerosis (als) and frontotemporal dementia (ftd). |
2019-07-05 |
2023-08-13 |
mouse |
| Bart Swinnen, Andre Bento-Abreu, Tania F Gendron, Steven Boeynaems, Elke Bogaert, Rik Nuyts, Mieke Timmers, Wendy Scheveneels, Nicole Hersmus, Jiou Wang, Sarah Mizielinska, Adrian M Isaacs, Leonard Petrucelli, Robin Lemmens, Philip Van Damme, Ludo Van Den Bosch, Wim Robberech. A zebrafish model for C9orf72 ALS reveals RNA toxicity as a pathogenic mechanism. Acta neuropathologica. vol 135. issue 3. 2019-07-01. PMID:29302778. |
the exact mechanism underlying amyotrophic lateral sclerosis (als) and frontotemporal dementia (ftd) associated with the ggggcc repeat expansion in c9orf72 is still unclear. |
2019-07-01 |
2023-08-13 |
zebrafish |
| Thomas G Moens, Sarah Mizielinska, Teresa Niccoli, Jamie S Mitchell, Annora Thoeng, Charlotte E Ridler, Sebastian Grönke, Jacqueline Esser, Amanda Heslegrave, Henrik Zetterberg, Linda Partridge, Adrian M Isaac. Sense and antisense RNA are not toxic in Drosophila models of C9orf72-associated ALS/FTD. Acta neuropathologica. vol 135. issue 3. 2019-07-01. PMID:29380049. |
a ggggcc hexanucleotide repeat expansion in the c9orf72 gene is the most common genetic cause of amyotrophic lateral sclerosis and frontotemporal dementia. |
2019-07-01 |
2023-08-13 |
drosophila_melanogaster |
| April L Darling, Leonid Breydo, Emma G Rivas, Niad T Gebru, Dali Zheng, Jeremy D Baker, Laura J Blair, Chad A Dickey, John Koren, Vladimir N Uversk. Repeated repeat problems: Combinatorial effect of C9orf72-derived dipeptide repeat proteins. International journal of biological macromolecules. vol 127. 2019-06-20. PMID:30639592. |
a microsatellite expansion mutation in c9orf72 is the most common genetic cause of amyotrophic lateral sclerosis (als) and frontotemporal dementia (ftd). |
2019-06-20 |
2023-08-13 |
Not clear |
| Petra Frick, Chantal Sellier, Ian R A Mackenzie, Chieh-Yu Cheng, Julie Tahraoui-Bories, Cecile Martinat, R Jeroen Pasterkamp, Johannes Prudlo, Dieter Edbauer, Mustapha Oulad-Abdelghani, Regina Feederle, Nicolas Charlet-Berguerand, Manuela Neuman. Novel antibodies reveal presynaptic localization of C9orf72 protein and reduced protein levels in C9orf72 mutation carriers. Acta neuropathologica communications. vol 6. issue 1. 2019-06-05. PMID:30075745. |
hexanucleotide repeat expansion in c9orf72 is the most common genetic cause of frontotemporal dementia and amyotrophic lateral sclerosis, but the pathogenic mechanism of this mutation remains unresolved. |
2019-06-05 |
2023-08-13 |
mouse |
| Yuan Zhang, Christopher Roland, Celeste Sagu. Structural and Dynamical Characterization of DNA and RNA Quadruplexes Obtained from the GGGGCC and GGGCCT Hexanucleotide Repeats Associated with C9FTD/ALS and SCA36 Diseases. ACS chemical neuroscience. vol 9. issue 5. 2019-05-21. PMID:29281254. |
a (ggggcc) hexanucleotide repeat (hr) expansion in the c9orf72 gene has been considered the major cause behind both frontotemporal dementia and amyotrophic lateral sclerosis, while a (gggcct) is associated with spinocerebellar ataxia 36. |
2019-05-21 |
2023-08-13 |
Not clear |
| Yingxiao Shi, Shaoyu Lin, Kim A Staats, Yichen Li, Wen-Hsuan Chang, Shu-Ting Hung, Eric Hendricks, Gabriel R Linares, Yaoming Wang, Esther Y Son, Xinmei Wen, Kassandra Kisler, Brent Wilkinson, Louise Menendez, Tohru Sugawara, Phillip Woolwine, Mickey Huang, Michael J Cowan, Brandon Ge, Nicole Koutsodendris, Kaitlin P Sandor, Jacob Komberg, Vamshidhar R Vangoor, Ketharini Senthilkumar, Valerie Hennes, Carina Seah, Amy R Nelson, Tze-Yuan Cheng, Shih-Jong J Lee, Paul R August, Jason A Chen, Nicholas Wisniewski, Victor Hanson-Smith, T Grant Belgard, Alice Zhang, Marcelo Coba, Chris Grunseich, Michael E Ward, Leonard H van den Berg, R Jeroen Pasterkamp, Davide Trotti, Berislav V Zlokovic, Justin K Ichid. Haploinsufficiency leads to neurodegeneration in C9ORF72 ALS/FTD human induced motor neurons. Nature medicine. vol 24. issue 3. 2019-05-10. PMID:29400714. |
an intronic ggggcc repeat expansion in c9orf72 is the most common cause of amyotrophic lateral sclerosis (als) and frontotemporal dementia (ftd), but the pathogenic mechanism of this repeat remains unclear. |
2019-05-10 |
2023-08-13 |
mouse |
| Yong-Jie Zhang, Tania F Gendron, Mark T W Ebbert, Aliesha D O'Raw, Mei Yue, Karen Jansen-West, Xu Zhang, Mercedes Prudencio, Jeannie Chew, Casey N Cook, Lillian M Daughrity, Jimei Tong, Yuping Song, Sarah R Pickles, Monica Castanedes-Casey, Aishe Kurti, Rosa Rademakers, Bjorn Oskarsson, Dennis W Dickson, Wenqian Hu, Aaron D Gitler, John D Fryer, Leonard Petrucell. Poly(GR) impairs protein translation and stress granule dynamics in C9orf72-associated frontotemporal dementia and amyotrophic lateral sclerosis. Nature medicine. vol 24. issue 8. 2019-05-10. PMID:29942091. |
the major genetic cause of frontotemporal dementia (ftd) and amyotrophic lateral sclerosis (als) is a c9orf72 g |
2019-05-10 |
2023-08-13 |
Not clear |
| Nicholas J Kramer, Michael S Haney, David W Morgens, Ana Jovičić, Julien Couthouis, Amy Li, James Ousey, Rosanna Ma, Gregor Bieri, C Kimberly Tsui, Yingxiao Shi, Nicholas T Hertz, Marc Tessier-Lavigne, Justin K Ichida, Michael C Bassik, Aaron D Gitle. CRISPR-Cas9 screens in human cells and primary neurons identify modifiers of C9ORF72 dipeptide-repeat-protein toxicity. Nature genetics. vol 50. issue 4. 2019-05-08. PMID:29507424. |
hexanucleotide-repeat expansions in the c9orf72 gene are the most common cause of amyotrophic lateral sclerosis and frontotemporal dementia (c9als/ftd). |
2019-05-08 |
2023-08-13 |
mouse |
| Shima Mehrabian, Håkan Thonberg, Margarita Raycheva, Lena Lilius, Katya Stoyanova, Charlotte Forsell, Lena Cavallin, Desislava Nesheva, Eric Westman, Draga Toncheva, Latchezar Traykov, Bengt Winblad, Caroline Graf. Phenotypic variability and neuropsychological findings associated with C9orf72 repeat expansions in a Bulgarian dementia cohort. PloS one. vol 13. issue 12. 2019-05-06. PMID:30550541. |
the ggggcc repeat expansion in the c9orf72 gene was recently identified as a major cause of amyotrophic lateral sclerosis (als) and frontotemporal dementia (ftd) in several european populations. |
2019-05-06 |
2023-08-13 |
Not clear |
| Joseph Amick, Arun Kumar Tharkeshwar, Catherine Amaya, Shawn M Ferguso. WDR41 supports lysosomal response to changes in amino acid availability. Molecular biology of the cell. vol 29. issue 18. 2019-04-25. PMID:29995611. |
c9orf72 mutations are a major cause of amyotrophic lateral sclerosis and frontotemporal dementia. |
2019-04-25 |
2023-08-13 |
human |
| Veronica Castelnovo, Silvia Paola Caminiti, Nilo Riva, Giuseppe Magnani, Vincenzo Silani, Daniela Peran. Heterogeneous brain FDG-PET metabolic patterns in patients with C9orf72 mutation. Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology. vol 40. issue 3. 2019-04-16. PMID:30554355. |
the hexanucleotide repeat expansion in c9orf72 is an associated genetic cause in amyotrophic lateral sclerosis (als) and frontotemporal dementia (ftd). |
2019-04-16 |
2023-08-13 |
Not clear |