| Publication |
Sentence |
Publish Date |
Extraction Date |
Species |
| Gorm Thorlacius-Ussing, Jørgen E Nielsen, Ian Law, Hanne Vibe Hansen, Andersen Birgitte B. Mania triggered by levodopa treatment in a patient with frontotemporal dementia caused by A C9orf72 repeat expansion: A case report. Clinical neurology and neurosurgery. vol 198. 2021-06-21. PMID:32823188. |
mania triggered by levodopa treatment in a patient with frontotemporal dementia caused by a c9orf72 repeat expansion: a case report. |
2021-06-21 |
2023-08-13 |
Not clear |
| Lucy L Russell, Caroline V Greaves, Martina Bocchetta, Jennifer Nicholas, Rhian S Convery, Katrina Moore, David M Cash, John van Swieten, Lize Jiskoot, Fermin Moreno, Raquel Sanchez-Valle, Barbara Borroni, Robert Laforce, Mario Masellis, Maria Carmela Tartaglia, Caroline Graff, Emanuela Rotondo, Daniela Galimberti, James B Rowe, Elizabeth Finger, Matthis Synofzik, Rik Vandenberghe, Alexandre de Mendonça, Fabrizio Tagliavini, Isabel Santana, Simon Ducharme, Chris Butler, Alex Gerhard, Johannes Levin, Adrian Danek, Markus Otto, Jason D Warren, Jonathan D Rohre. Social cognition impairment in genetic frontotemporal dementia within the GENFI cohort. Cortex; a journal devoted to the study of the nervous system and behavior. vol 133. 2021-06-21. PMID:33221702. |
facial emotion recognition (fer) and faux pas (fp) recognition tests were used to study social cognition within the genetic frontotemporal dementia initiative (genfi), a large familial ftd cohort of c9orf72, grn, and mapt mutation carriers. |
2021-06-21 |
2023-08-13 |
human |
| Weilun Pang, Fenghua H. Cellular and physiological functions of C9ORF72 and implications for ALS/FTD. Journal of neurochemistry. vol 157. issue 3. 2021-06-21. PMID:33259633. |
the hexanucleotide repeat expansion (hre) in the c9orf72 gene is the main cause of two tightly linked neurodegenerative diseases, amyotrophic lateral sclerosis (als) and frontotemporal dementia (ftd). |
2021-06-21 |
2023-08-13 |
mouse |
| Fang He, Brittany N Flores, Amy Krans, Michelle Frazer, Sam Natla, Sarjina Niraula, Olamide Adefioye, Sami J Barmada, Peter K Tod. The carboxyl termini of RAN translated GGGGCC nucleotide repeat expansions modulate toxicity in models of ALS/FTD. Acta neuropathologica communications. vol 8. issue 1. 2021-05-31. PMID:32753055. |
an intronic hexanucleotide repeat expansion in c9orf72 causes familial and sporadic amyotrophic lateral sclerosis (als) and frontotemporal dementia (ftd). |
2021-05-31 |
2023-08-13 |
drosophila_melanogaster |
| Elke Braems, Bart Swinnen, Ludo Van Den Bosc. C9orf72 loss-of-function: a trivial, stand-alone or additive mechanism in C9 ALS/FTD? Acta neuropathologica. vol 140. issue 5. 2021-05-31. PMID:32876811. |
a repeat expansion in c9orf72 is responsible for the characteristic neurodegeneration in amyotrophic lateral sclerosis (als) and frontotemporal dementia (ftd) in a still unresolved manner. |
2021-05-31 |
2023-08-13 |
Not clear |
| Wan Yun Ho, Sheeja Navakkode, Fujia Liu, Tuck Wah Soong, Shuo-Chien Lin. Deregulated expression of a longevity gene, Klotho, in the C9orf72 deletion mice with impaired synaptic plasticity and adult hippocampal neurogenesis. Acta neuropathologica communications. vol 8. issue 1. 2021-05-31. PMID:32887666. |
hexanucleotide repeat expansion of c9orf72 is the most common genetic cause of amyotrophic lateral sclerosis and frontotemporal dementia. |
2021-05-31 |
2023-08-13 |
mouse |
| Ryan J H West, Joanne L Sharpe, André Voelzmann, Anna L Munro, Ines Hahn, Richard A Baines, Stuart Pickering-Brow. Co-expression of C9orf72 related dipeptide-repeats over 1000 repeat units reveals age- and combination-specific phenotypic profiles in Drosophila. Acta neuropathologica communications. vol 8. issue 1. 2021-05-31. PMID:32894207. |
a large intronic hexanucleotide repeat expansion (ggggcc) within the c9orf72 (c9orf72-smcr8 complex subunit) locus is the most prevalent genetic cause of both frontotemporal dementia (ftd) and motor neuron disease (mnd). |
2021-05-31 |
2023-08-13 |
drosophila_melanogaster |
| Bin Jiao, Mengli Wang, Hao Feng, Han Bao, Feiran Zhang, Hao Wu, Junling Wang, Beisha Tang, Peng Jin, Lu She. Downregulation of TOP2 modulates neurodegeneration caused by GGGGCC expanded repeats. Human molecular genetics. vol 30. issue 10. 2021-05-31. PMID:33749734. |
ggggcc repeats in a non-coding region of the c9orf72 gene have been identified as a major genetic cause of amyotrophic lateral sclerosis (als) and frontotemporal dementia. |
2021-05-31 |
2023-08-13 |
mouse |
| Mingmei Wang, Hongfeng Wang, Zhouteng Tao, Qin Xia, Zongbing Hao, Jochen H M Prehn, Xuechu Zhen, Guanghui Wang, Zheng Yin. C9orf72 associates with inactive Rag GTPases and regulates mTORC1-mediated autophagosomal and lysosomal biogenesis. Aging cell. vol 19. issue 4. 2021-05-20. PMID:32100453. |
ggggcc repeat expansion in c9orf72 is the most common genetic cause in both frontotemporal dementia (ftd) and amyotrophic lateral sclerosis (als), two neurodegenerative disorders in association with aging. |
2021-05-20 |
2023-08-13 |
Not clear |
| Hamidreza Jafarinia, Erik van der Giessen, Patrick R Onc. Phase Separation of Toxic Dipeptide Repeat Proteins Related to C9orf72 ALS/FTD. Biophysical journal. vol 119. issue 4. 2021-05-14. PMID:32730793. |
the expansion mutation in the c9orf72 gene is the most common known genetic cause for amyotrophic lateral sclerosis (als) and frontotemporal dementia (ftd). |
2021-05-14 |
2023-08-13 |
Not clear |
| Size Zheng, Ali Sahimi, Katherine S Shing, Muhammad Sahim. Molecular Dynamics Study of Structure, Folding, and Aggregation of Poly-PR and Poly-GR Proteins. Biophysical journal. vol 120. issue 1. 2021-05-14. PMID:33253636. |
poly-proline-arginine (poly-pr) and poly-glycine-arginine (poly-gr) proteins are believed to be the most toxic dipeptide repeat (dpr) proteins that are expressed by the hexanucleotide repeat expansion mutation in c9orf72, which are associated with amyotrophic lateral sclerosis (als) and frontotemporal dementia (ftd) diseases. |
2021-05-14 |
2023-08-13 |
Not clear |
| Shuangxi Li, Zhihao Wu, Yu Li, Ishaq Tantray, Diego De Stefani, Andrea Mattarei, Gopinath Krishnan, Fen-Biao Gao, Hannes Vogel, Bingwei L. Altered MICOS Morphology and Mitochondrial Ion Homeostasis Contribute to Poly(GR) Toxicity Associated with C9-ALS/FTD. Cell reports. vol 32. issue 5. 2021-05-03. PMID:32755582. |
g4c2 repeat expansion in c9orf72 is the most common genetic cause of als along with frontotemporal dementia (c9-als/ftd), with increasing evidence supporting repeat-encoded poly(gr) in disease pathogenesis. |
2021-05-03 |
2023-08-13 |
drosophila_melanogaster |
| Laurent Brasseur, Audrey Coens, Jehan Waeytens, Ronald Melki, Luc Bousse. Dipeptide repeat derived from C9orf72 hexanucleotide expansions forms amyloids or natively unfolded structures in vitro. Biochemical and biophysical research communications. vol 526. issue 2. 2021-04-20. PMID:32223927. |
the abnormal repetition of the hexanucleotide ggggcc within the c9orf72 gene is the most common genetic cause of both amyotrophic lateral sclerosis (als) and frontotemporal dementia (ftd). |
2021-04-20 |
2023-08-13 |
Not clear |
| Marta Melis, Giovanni Defazio, Elisa Casaglia, Valerio Melas, Gianluca Flori. Early juvenile reading epilepsy and later frontotemporal dementia (FTD): expanding the clinical phenotype of C9ORF72 mutation? Amyotrophic lateral sclerosis & frontotemporal degeneration. 2021-04-05. PMID:33818195. |
early juvenile reading epilepsy and later frontotemporal dementia (ftd): expanding the clinical phenotype of c9orf72 mutation? |
2021-04-05 |
2023-08-13 |
Not clear |
| Jazmyne L Jackson, NiCole A Finch, Matthew C Baker, Jennifer M Kachergus, Mariely DeJesus-Hernandez, Kimberly Pereira, Elizabeth Christopher, Mercedes Prudencio, Michael G Heckman, E Aubrey Thompson, Dennis W Dickson, Jaimin Shah, Björn Oskarsson, Leonard Petrucelli, Rosa Rademakers, Marka van Blitterswij. Elevated methylation levels, reduced expression levels, and frequent contractions in a clinical cohort of C9orf72 expansion carriers. Molecular neurodegeneration. vol 15. issue 1. 2021-03-19. PMID:32000838. |
a repeat expansion in the c9orf72-smcr8 complex subunit (c9orf72) is the most common genetic cause of two debilitating neurodegenerative diseases: amyotrophic lateral sclerosis (als) and frontotemporal dementia (ftd). |
2021-03-19 |
2023-08-13 |
Not clear |
| Nadja S Andrade, Melina Ramic, Rustam Esanov, Wenjun Liu, Mathew J Rybin, Gabriel Gaidosh, Abbas Abdallah, Samuel Del'Olio, Tyler C Huff, Nancy T Chee, Sadhana Anatha, Tania F Gendron, Claes Wahlestedt, Yanbin Zhang, Michael Benatar, Christian Mueller, Zane Zeie. Dipeptide repeat proteins inhibit homology-directed DNA double strand break repair in C9ORF72 ALS/FTD. Molecular neurodegeneration. vol 15. issue 1. 2021-03-19. PMID:32093728. |
the c9orf72 hexanucleotide repeat expansion is the most common known genetic cause of amyotrophic lateral sclerosis (als) and frontotemporal dementia (ftd), two fatal age-related neurodegenerative diseases. |
2021-03-19 |
2023-08-13 |
Not clear |
| Chaitra Sathyaprakash, Raquel Manzano, Miguel A Varela, Yasumasa Hashimoto, Matthew J A Wood, Kevin Talbot, Yoshitsugu Aok. Development of LNA Gapmer Oligonucleotide-Based Therapy for ALS/FTD Caused by the C9orf72 Repeat Expansion. Methods in molecular biology (Clifton, N.J.). vol 2176. 2021-03-19. PMID:32865792. |
the recent discovery of the hexanucleotide repeat expansion in the c9orf72 gene as the causative agent of als (c9als) gives rise to the opportunity to develop new therapies directed at this mutation , which is responsible for a large proportion of als and/or frontotemporal dementia cases. |
2021-03-19 |
2023-08-13 |
human |
| Dario Saracino, Isabelle Le Be. Clinical Update on C9orf72: Frontotemporal Dementia, Amyotrophic Lateral Sclerosis, and Beyond. Advances in experimental medicine and biology. vol 1281. 2021-02-15. PMID:33433869. |
clinical update on c9orf72: frontotemporal dementia, amyotrophic lateral sclerosis, and beyond. |
2021-02-15 |
2023-08-13 |
Not clear |
| Jonathan D Rohrer, Adam L Boxe. The Frontotemporal Dementia Prevention Initiative: Linking Together Genetic Frontotemporal Dementia Cohort Studies. Advances in experimental medicine and biology. vol 1281. 2021-02-15. PMID:33433872. |
around one-third of frontotemporal dementia (ftd) is autosomal dominant with the major genetic causes being mutations in mapt, grn and c9orf72. |
2021-02-15 |
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 |