| Publication |
Sentence |
Publish Date |
Extraction Date |
Species |
| Hsiao-Lin V Wang, Jian-Feng Xiang, Chenyang Yuan, Austin M Veire, Tania F Gendron, Melissa E Murray, Malu G Tansey, Jian Hu, Marla Gearing, Jonathan D Glass, Peng Jin, Victor G Corces, Zachary T McEachi. pTDP-43 levels correlate with cell type specific molecular alterations in the prefrontal cortex of bioRxiv : the preprint server for biology. 2024-06-18. PMID:36711601. |
ptdp-43 levels correlate with cell type specific molecular alterations in the prefrontal cortex of repeat expansions in the c9orf72 gene are the most common genetic cause of amyotrophic lateral sclerosis and familial frontotemporal dementia (als/ftd). |
2024-06-18 |
2024-06-21 |
Not clear |
| Jakub Scaber, Iona Thomas-Wright, Alex J Clark, Yinyan Xu, Björn F Vahsen, Mireia Carcolé, Ruxandra Dafinca, Lucy Farrimond, Adrian M Isaacs, David L Bennett, Kevin Talbo. Cellular and axonal transport phenotypes due to the C9ORF72 HRE in iPSC motor and sensory neurons. Stem cell reports. 2024-06-14. PMID:38876108. |
induced pluripotent stem cell (ipsc)-derived motor neurons (mns) from patients with amyotrophic lateral sclerosis (als) and the c9orf72 hexanucleotide repeat expansion (hre) have multiple cellular phenotypes, but which of these accurately reflect the biology underlying the cell-specific vulnerability of als is uncertain. |
2024-06-14 |
2024-06-17 |
Not clear |
| Yanyan Geng, Changdong Liu, Naining Xu, Monica Ching Suen, Haitao Miao, Yuanyuan Xie, Bingchang Zhang, Xueqin Chen, Yuanjian Song, Zhanxiang Wang, Qixu Cai, Guang Zh. Crystal structure of a tetrameric RNA G-quadruplex formed by hexanucleotide repeat expansions of C9orf72 in ALS/FTD. Nucleic acids research. 2024-06-11. PMID:38860430. |
the abnormal ggggcc hexanucleotide repeat expansions (hres) in c9orf72 cause the fatal neurodegenerative diseases including amyotrophic lateral sclerosis and frontotemporal dementia. |
2024-06-11 |
2024-06-14 |
Not clear |
| Leanne Jiang, Timothy J Tracey, Melinder K Gill, Stephanie L Howe, Dominique T Power, Vanda Bharti, Pamela A McCombe, Robert D Henderson, Frederik J Steyn, Shyuan T Ng. Generation of human induced pluripotent stem cell lines from sporadic, sporadic frontotemporal dementia, familial SOD1, and familial C9orf72 amyotrophic lateral sclerosis (ALS) patients. Stem cell research. vol 78. 2024-05-26. PMID:38796984. |
generation of human induced pluripotent stem cell lines from sporadic, sporadic frontotemporal dementia, familial sod1, and familial c9orf72 amyotrophic lateral sclerosis (als) patients. |
2024-05-26 |
2024-05-31 |
human |
| Barbara E Spencer, Sharon X Xie, Lauren B Elman, Colin C Quinn, Defne Amado, Michael Baer, Edward B Lee, Vivianna Van Deerlin, Laynie Dratch, Lauren Massimo, David J Irwin, Corey T McMilla. C9orf72 repeat expansions modify risk for secondary motor and cognitive-behavioral symptoms in behavioral-variant frontotemporal degeneration and amyotrophic lateral sclerosis. medRxiv : the preprint server for health sciences. 2024-05-15. PMID:38746326. |
c9orf72 repeat expansions modify risk for secondary motor and cognitive-behavioral symptoms in behavioral-variant frontotemporal degeneration and amyotrophic lateral sclerosis. |
2024-05-15 |
2024-05-27 |
Not clear |
| Leszek Błaszczyk, Marcin Ryczek, Bimolendu Das, Martyna Mateja-Pluta, Magdalena Bejger, Joanna Śliwiak, Kazuhiko Nakatani, Agnieszka Kilisze. Antisense RNA C9orf72 hexanucleotide repeat associated with amyotrophic lateral sclerosis and frontotemporal dementia forms a triplex-like structure and binds small synthetic ligand. Nucleic acids research. 2024-05-13. PMID:38738637. |
antisense rna c9orf72 hexanucleotide repeat associated with amyotrophic lateral sclerosis and frontotemporal dementia forms a triplex-like structure and binds small synthetic ligand. |
2024-05-13 |
2024-05-27 |
Not clear |
| Leszek Błaszczyk, Marcin Ryczek, Bimolendu Das, Martyna Mateja-Pluta, Magdalena Bejger, Joanna Śliwiak, Kazuhiko Nakatani, Agnieszka Kilisze. Antisense RNA C9orf72 hexanucleotide repeat associated with amyotrophic lateral sclerosis and frontotemporal dementia forms a triplex-like structure and binds small synthetic ligand. Nucleic acids research. 2024-05-13. PMID:38738637. |
the abnormal expansion of ggggcc/ggcccc hexanucleotide repeats (hr) in c9orf72 is associated with amyotrophic lateral sclerosis (als) and frontotemporal dementia (ftd). |
2024-05-13 |
2024-05-27 |
Not clear |
| Jessica Sultana, Audrey M G Ragagnin, Sonam Parakh, Sayanthooran Saravanabavan, Kai Ying Soo, Marta Vidal, Cyril Jones Jagaraj, Kunjie Ding, Sharlynn Wu, Sina Shadfar, Emily K Don, Anand Deva, Garth Nicholson, Dominic B Rowe, Ian Blair, Shu Yang, Julie D Atki. C9orf72-Associated Dipeptide Repeat Expansions Perturb ER-Golgi Vesicular Trafficking, Inducing Golgi Fragmentation and ER Stress, in ALS/FTD. Molecular neurobiology. 2024-05-09. PMID:38722513. |
hexanucleotide repeat expansions (hres) in the chromosome 9 open reading frame 72 (c9orf72) gene are the most frequent genetic cause of amyotrophic lateral sclerosis (als) and frontotemporal dementia (ftd). |
2024-05-09 |
2024-05-27 |
Not clear |
| Evan Udine, Mariely DeJesus-Hernandez, Shulan Tian, Sofia Pereira das Neves, Richard Crook, NiCole A Finch, Matthew C Baker, Cyril Pottier, Neill R Graff-Radford, Bradley F Boeve, Ronald C Petersen, David S Knopman, Keith A Josephs, Björn Oskarsson, Sandro Da Mesquita, Leonard Petrucelli, Tania F Gendron, Dennis W Dickson, Rosa Rademakers, Marka van Blitterswij. Abundant transcriptomic alterations in the human cerebellum of patients with a C9orf72 repeat expansion. Acta neuropathologica. vol 147. issue 1. 2024-04-19. PMID:38641715. |
the most prominent genetic cause of both amyotrophic lateral sclerosis (als) and frontotemporal lobar degeneration (ftld) is a repeat expansion in the gene c9orf72. |
2024-04-19 |
2024-04-22 |
human |
| Dalit Barel, Daphna Marom, Penina Ponger, Alina Kurolap, Anat Bar-Shira, Idit Kaplan-Ber, Adi Mory, Beatrice Abramovich, Yuval Yaron, Vivian Drory, Hagit Baris Feldma. Genetic diagnosis and detection rates using C9orf72 repeat expansion and a multi-gene panel in amyotrophic lateral sclerosis. Journal of neurology. 2024-04-16. PMID:38625400. |
genetic diagnosis and detection rates using c9orf72 repeat expansion and a multi-gene panel in amyotrophic lateral sclerosis. |
2024-04-16 |
2024-04-18 |
Not clear |
| Zhiyuan Huang, Yixin Zhou, Yang Liu, Jiou Wan. Protocol to identify DNA-binding proteins recognizing nucleotide repeat dsDNAs. STAR protocols. vol 5. issue 2. 2024-04-13. PMID:38613779. |
here, we present a protocol to discover proteins specifically interacting with a hexanucleotide repeat dna, the expansion of which is known as the most frequent genetic cause of familial c9orf72 amyotrophic lateral sclerosis and frontotemporal dementia. |
2024-04-13 |
2024-04-16 |
Not clear |
| C Sellier, P Corcia, P Vourc'h, L Dupui. C9ORF72 hexanucleotide repeat expansion: From ALS and FTD to a broader pathogenic role? Revue neurologique. 2024-04-12. PMID:38609750. |
the major gene underlying monogenic forms of amyotrophic lateral sclerosis (als) and fronto-temporal dementia (ftd) is c9orf72. |
2024-04-12 |
2024-04-15 |
Not clear |
| Suma Babu, Katharine A Nicholson, Jeffrey D Rothstein, Andrea Swenson, Paul J Sampognaro, Pravin Pant, Eric A Macklin, Susan Spruill, Sabrina Paganoni, Tania F Gendron, Mercedes Prudencio, Leonard Petrucelli, Darrell Nix, Sean Landrette, Esther Nkrumah, Keith Fandrick, Joan Edwards, Peter R Youn. Apilimod dimesylate in C9orf72 amyotrophic lateral sclerosis: a randomized phase 2a clinical trial. Brain : a journal of neurology. 2024-04-12. PMID:38606777. |
apilimod dimesylate in c9orf72 amyotrophic lateral sclerosis: a randomized phase 2a clinical trial. |
2024-04-12 |
2024-04-14 |
human |
| Suma Babu, Katharine A Nicholson, Jeffrey D Rothstein, Andrea Swenson, Paul J Sampognaro, Pravin Pant, Eric A Macklin, Susan Spruill, Sabrina Paganoni, Tania F Gendron, Mercedes Prudencio, Leonard Petrucelli, Darrell Nix, Sean Landrette, Esther Nkrumah, Keith Fandrick, Joan Edwards, Peter R Youn. Apilimod dimesylate in C9orf72 amyotrophic lateral sclerosis: a randomized phase 2a clinical trial. Brain : a journal of neurology. 2024-04-12. PMID:38606777. |
apilimod dimesylate is a first-in-class phosphoinositide kinase, fyve-type zinc finger containing (pikfyve) inhibitor with favourable clinical safety profile and has demonstrated activity in preclinical c9orf72 and tdp-43 amyotrophic lateral sclerosis models. |
2024-04-12 |
2024-04-14 |
human |
| Nada Kojak, Junko Kuno, Kristina E Fittipaldi, Ambereen Khan, David Wenger, Michael Glasser, Roberto A Donnianni, Yajun Tang, Jade Zhang, Katie Huling, Roxanne Ally, Alejandro O Mujica, Terrence Turner, Gina Magardino, Pei Yi Huang, Sze Yen Kerk, Gustavo Droguett, Marine Prissette, Jose Rojas, Teodoro Gomez, Anthony Gagliardi, Charleen Hunt, Jeremy S Rabinowitz, Guochun Gong, William Poueymirou, Eric Chiao, Brian Zambrowicz, Chia-Jen Siao, Daisuke Kajimur. Somatic and intergenerational G4C2 hexanucleotide repeat instability in a human C9orf72 knock-in mouse model. Nucleic acids research. 2024-04-10. PMID:38597682. |
expansion of a g4c2 repeat in the c9orf72 gene is associated with familial amyotrophic lateral sclerosis (als) and frontotemporal dementia (ftd). |
2024-04-10 |
2024-04-12 |
mouse |
| b' Andrea Calvo, Cristina Moglia, Antonio Canosa, Umberto Manera, Rosario Vasta, Maurizio Grassano, Margherita Daviddi, Filippo De Mattei, Enrico Matteoni, Salvatore Gallone, Maura Brunetti, Luca Sbaiz, Sara Cabras, Laura Peotta, Francesca Palumbo, Barbara Iazzolino, Gabriele Mora, Adriano Chi\\xc3\\xb. High Frequency of Cognitive and Behavioral Impairment in Amyotrophic Lateral Sclerosis Patients with SOD1 Pathogenic Variants. Annals of neurology. 2024-04-03. PMID:38568044.' |
while the cognitive-behavioral characteristics of amyotrophic lateral sclerosis (als) patients carrying c9orf72 pathological repeat expansion have been extensively studied, our understanding of those carrying sod1 variants is mostly based on case reports. |
2024-04-03 |
2024-04-05 |
Not clear |
| Xiujuan Fu, Zhe Zhang, Lindsey R Hayes, Noelle Wright, Julie Asbury, Shelley Li, Yingzhi Ye, Shuying Su. DDX3X overexpression decreases dipeptide repeat proteins in a mouse model of C9ORF72-ALS/FTD. Experimental neurology. 2024-03-31. PMID:38556190. |
hexanucleotide repeat expansion in c9orf72 (c9) is the most common genetic cause of amyotrophic lateral sclerosis (als) and frontotemporal dementia (ftd). |
2024-03-31 |
2024-04-03 |
mouse |
| Anna Nigri, Mario Stanziano, Davide Fedeli, Umberto Manera, Stefania Ferraro, Jean Paul Medina Carrion, Sara Palermo, Laura Lequio, Federica Denegri, Federica Agosta, Edoardo Gioele Spinelli, Massimo Filippi, Marina Grisoli, Maria Consuelo Valentini, Filippo De Mattei, Antonio Canosa, Andrea Calvo, Adriano Chiò, Maria Grazia Bruzzone, Cristina Mogli. Distinct neural signatures of pulvinar in C9orf72 amyotrophic lateral sclerosis mutation carriers and noncarriers. European journal of neurology. 2024-03-12. PMID:38469975. |
distinct neural signatures of pulvinar in c9orf72 amyotrophic lateral sclerosis mutation carriers and noncarriers. |
2024-03-12 |
2024-03-14 |
Not clear |
| Chong Gao, Qinghua Shi, Xue Pan, Jiajia Chen, Yuhong Zhang, Jiali Lang, Shan Wen, Xiaodong Liu, Tian-Lin Cheng, Kai Le. Neuromuscular organoids model spinal neuromuscular pathologies in C9orf72 amyotrophic lateral sclerosis. Cell reports. vol 43. issue 3. 2024-03-03. PMID:38431841. |
neuromuscular organoids model spinal neuromuscular pathologies in c9orf72 amyotrophic lateral sclerosis. |
2024-03-03 |
2024-03-06 |
Not clear |
| Chong Gao, Qinghua Shi, Xue Pan, Jiajia Chen, Yuhong Zhang, Jiali Lang, Shan Wen, Xiaodong Liu, Tian-Lin Cheng, Kai Le. Neuromuscular organoids model spinal neuromuscular pathologies in C9orf72 amyotrophic lateral sclerosis. Cell reports. vol 43. issue 3. 2024-03-03. PMID:38431841. |
hexanucleotide repeat expansions in the c9orf72 gene are the most common cause of amyotrophic lateral sclerosis (als) and frontotemporal dementia. |
2024-03-03 |
2024-03-06 |
Not clear |