| Publication |
Sentence |
Publish Date |
Extraction Date |
Species |
| Riccardo Sirtori, Michelle J Gregoire, Emily M Potts, Alicia Collins, Liviana Donatelli, Claudia Fallin. LINC complex alterations are a key feature of sporadic and familial ALS/FTD. Acta neuropathologica communications. vol 12. issue 1. 2024-04-26. PMID:38664831. |
in this study we show extensive alterations to the linc complex in motor and cortical ipsc-derived neurons and spinal cord organoids carrying the als causative mutation in the c9orf72 gene (c9). |
2024-04-26 |
2024-04-28 |
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 |
| Paul M McKeever, Aiden M Sababi, Raghav Sharma, Nicholas Khuu, Zhiyu Xu, Shu Yi Shen, Shangxi Xiao, Philip McGoldrick, Elias Orouji, Troy Ketela, Christine Sato, Danielle Moreno, Naomi Visanji, Gabor G Kovacs, Julia Keith, Lorne Zinman, Ekaterina Rogaeva, Hani Goodarzi, Gary D Bader, Janice Robertso. Single-nucleus multiomic atlas of frontal cortex in amyotrophic lateral sclerosis with a deep learning-based decoding of alternative polyadenylation mechanisms. bioRxiv : the preprint server for biology. 2024-01-08. PMID:38187588. |
here we generated a single-nucleus transcriptomic and epigenomic atlas of the frontal cortex of als cases with c9orf72 (c9) hexanucleotide repeat expansions and sporadic als (sals). |
2024-01-08 |
2024-01-10 |
Not clear |
| Junhao Li, Manoj K Jaiswal, Jo-Fan Chien, Alexey Kozlenkov, Jinyoung Jung, Ping Zhou, Mahammad Gardashli, Luc J Pregent, Erica Engelberg-Cook, Dennis W Dickson, Veronique V Belzil, Eran A Mukamel, Stella Drachev. Divergent single cell transcriptome and epigenome alterations in ALS and FTD patients with C9orf72 mutation. Nature communications. vol 14. issue 1. 2023-09-15. PMID:37714849. |
a repeat expansion in the c9orf72 (c9) gene is the most common genetic cause of amyotrophic lateral sclerosis (als) and frontotemporal dementia (ftd). |
2023-09-15 |
2023-10-07 |
Not clear |
| M Rebecca Glineburg, Yuan Zhang, Amy Krans, Elizabeth M Tank, Sami J Barmada, Peter K Tod. Enhanced detection of expanded repeat mRNA foci with hybridization chain reaction. Acta neuropathologica communications. vol 9. issue 1. 2021-11-02. PMID:33892814. |
here we developed a repeat-specific form of hybridization chain reaction (r-hcr) as an alternative method for detection of repeat rna foci in two neurodegenerative disorders: c9orf72 associated als and frontotemporal dementia (c9 als/ftd) and fragile x-associated tremor/ataxia syndrome. |
2021-11-02 |
2023-08-13 |
Not clear |
| Aleksandra Kaliszewska, Joseph Allison, Tarik-Tarkan Col, Christopher Shaw, Natalia Aria. Elucidating the Role of Cerebellar Synaptic Dysfunction in C9orf72-ALS/FTD - a Systematic Review and Meta-Analysis. Cerebellum (London, England). 2021-09-07. PMID:34491551. |
we conclude that a reduction in c9orf72 protein levels combined with the accumulation of rna foci and dprs act synergistically to drive c9 synaptopathy in the cerebellum of c9-als/ftd patients. |
2021-09-07 |
2023-08-13 |
human |
| Stella A Glasmacher, Charis Wong, Iona E Pearson, Suvankar Pa. Survival and Prognostic Factors in C9orf72 Repeat Expansion Carriers: A Systematic Review and Meta-analysis. JAMA neurology. vol 77. issue 3. 2021-02-12. PMID:31738367. |
the c9orf72 repeat expansion (c9 or c9orf72re) confers a survival disadvantage in amyotrophic lateral sclerosis (als); its effect on prognosis in frontotemporal dementia (ftd) remains uncertain. |
2021-02-12 |
2023-08-13 |
Not clear |
| Shahram Saberi, Jennifer E Stauffer, Jie Jiang, Sandra Diaz Garcia, Amy E Taylor, Derek Schulte, Takuya Ohkubo, Cheyenne L Schloffman, Marcus Maldonado, Michael Baughn, Maria J Rodriguez, Don Pizzo, Don Cleveland, John Ravit. Sense-encoded poly-GR dipeptide repeat proteins correlate to neurodegeneration and uniquely co-localize with TDP-43 in dendrites of repeat-expanded C9orf72 amyotrophic lateral sclerosis. Acta neuropathologica. vol 135. issue 3. 2019-07-01. PMID:29196813. |
hexanucleotide repeat expansions in c9orf72 are the most common genetic cause of amyotrophic lateral sclerosis (c9 als). |
2019-07-01 |
2023-08-13 |
Not clear |