| Publication |
Sentence |
Publish Date |
Extraction Date |
Species |
| Katherine M Wilson, Bhavana Muralidharan, Adrian M Isaac. Relax, Don't RAN Translate It. Neuron. vol 104. issue 5. 2020-03-16. PMID:31805259. |
the (ggggcc)n repeat expansion in c9orf72, which is the most common cause of frontotemporal dementia and amyotrophic lateral sclerosis, is translated through repeat-associated non-aug (ran) translation. |
2020-03-16 |
2023-08-13 |
Not clear |
| Rui Wang, Xingyun Xu, Zongbing Hao, Shun Zhang, Dan Wu, Hongyang Sun, Chenchen Mu, Haigang Ren, Guanghui Wan. Poly-PR in C9ORF72-Related Amyotrophic Lateral Sclerosis/Frontotemporal Dementia Causes Neurotoxicity by Clathrin-Dependent Endocytosis. Neuroscience bulletin. vol 35. issue 5. 2020-03-03. PMID:31148094. |
ggggcc repeat expansions in the c9orf72 gene are the most common cause of amyotrophic lateral sclerosis and frontotemporal dementia (c9als/ftd). |
2020-03-03 |
2023-08-13 |
Not clear |
| M Tastevin, L Corneille, E Guedj, M Ceccaldi, C Lançon, V Bultingaire, R Richieri, L Kori. Major depressive disorder masking frontotemporal dementia secondary to C9orf72 mutation: A case report. Revue neurologique. vol 175. issue 6. 2020-01-16. PMID:30929877. |
major depressive disorder masking frontotemporal dementia secondary to c9orf72 mutation: a case report. |
2020-01-16 |
2023-08-13 |
Not clear |
| Leila Sellami, Frédéric St-Onge, Stéphane Poulin, Robert Laforc. Schizophrenia Phenotype Preceding Behavioral Variant Frontotemporal Dementia Related to C9orf72 Repeat Expansion. Cognitive and behavioral neurology : official journal of the Society for Behavioral and Cognitive Neurology. vol 32. issue 2. 2020-01-13. PMID:31205123. |
schizophrenia phenotype preceding behavioral variant frontotemporal dementia related to c9orf72 repeat expansion. |
2020-01-13 |
2023-08-13 |
Not clear |
| Hiroaki Suzuki, Yoshio Shibagaki, Seisuke Hattori, Masaaki Matsuok. The proline-arginine repeat protein linked to C9-ALS/FTD causes neuronal toxicity by inhibiting the DEAD-box RNA helicase-mediated ribosome biogenesis. Cell death & disease. vol 9. issue 10. 2019-12-13. PMID:30250194. |
a ggggcc repeat expansion in the c9orf72 gene has been identified as the most common genetic cause of amyotrophic lateral sclerosis and frontotemporal dementia. |
2019-12-13 |
2023-08-13 |
Not clear |
| Henri J M M Mutsaerts, Saira S Mirza, Jan Petr, David L Thomas, David M Cash, Martina Bocchetta, Enrico de Vita, Arron W S Metcalfe, Zahra Shirzadi, Andrew D Robertson, Maria Carmela Tartaglia, Sara B Mitchell, Sandra E Black, Morris Freedman, David Tang-Wai, Ron Keren, Ekaterina Rogaeva, John van Swieten, Robert Laforce, Fabrizio Tagliavini, Barbara Borroni, Daniela Galimberti, James B Rowe, Caroline Graff, Giovanni B Frisoni, Elizabeth Finger, Sandro Sorbi, Alexandre de Mendonça, Jonathan D Rohrer, Bradley J MacIntosh, Mario Maselli. Cerebral perfusion changes in presymptomatic genetic frontotemporal dementia: a GENFI study. Brain : a journal of neurology. vol 142. issue 4. 2019-12-10. PMID:30847466. |
genetic forms of frontotemporal dementia are most commonly due to mutations in three genes, c9orf72, grn or mapt, with presymptomatic carriers from families representing those at risk. |
2019-12-10 |
2023-08-13 |
Not clear |
| Henri J M M Mutsaerts, Saira S Mirza, Jan Petr, David L Thomas, David M Cash, Martina Bocchetta, Enrico de Vita, Arron W S Metcalfe, Zahra Shirzadi, Andrew D Robertson, Maria Carmela Tartaglia, Sara B Mitchell, Sandra E Black, Morris Freedman, David Tang-Wai, Ron Keren, Ekaterina Rogaeva, John van Swieten, Robert Laforce, Fabrizio Tagliavini, Barbara Borroni, Daniela Galimberti, James B Rowe, Caroline Graff, Giovanni B Frisoni, Elizabeth Finger, Sandro Sorbi, Alexandre de Mendonça, Jonathan D Rohrer, Bradley J MacIntosh, Mario Maselli. Cerebral perfusion changes in presymptomatic genetic frontotemporal dementia: a GENFI study. Brain : a journal of neurology. vol 142. issue 4. 2019-12-10. PMID:30847466. |
in the multicentre genetic frontotemporal dementia initiative (genfi) study, we investigated cross-sectional differences in arterial spin labelling mri-based cerebral blood flow between presymptomatic c9orf72, grn or mapt mutation carriers (n = 107) and non-carriers (n = 113), using general linear mixed-effects models and voxel-based analyses. |
2019-12-10 |
2023-08-13 |
Not clear |
| Jessica L Panman, Lize C Jiskoot, Mark J R J Bouts, Lieke H H Meeter, Emma L van der Ende, Jackie M Poos, Rogier A Feis, Anneke J A Kievit, Rick van Minkelen, Elise G P Dopper, Serge A R B Rombouts, John C van Swieten, Janne M Papm. Gray and white matter changes in presymptomatic genetic frontotemporal dementia: a longitudinal MRI study. Neurobiology of aging. vol 76. 2019-12-06. PMID:30711674. |
in genetic frontotemporal dementia, cross-sectional studies have identified profiles of presymptomatic neuroanatomical loss for c9orf72 repeat expansion, mapt, and grn mutations. |
2019-12-06 |
2023-08-13 |
Not clear |
| Alba Corman, Bomi Jung, Maria Häggblad, Lars Bräutigam, Vanesa Lafarga, Louise Lidemalm, Daniela Hühn, Jordi Carreras-Puigvert, Oscar Fernandez-Capetill. A Chemical Screen Identifies Compounds Limiting the Toxicity of C9ORF72 Dipeptide Repeats. Cell chemical biology. vol 26. issue 2. 2019-11-22. PMID:30527999. |
the expansion of ggggcc repeats within the first intron of c9orf72 constitutes the most common cause of amyotrophic lateral sclerosis (als) and frontotemporal dementia (ftd). |
2019-11-22 |
2023-08-13 |
zebrafish |
| Manal A Farg, Vinod Sundaramoorthy, Jessica M Sultana, Shu Yang, Rachel A K Atkinson, Vita Levina, Mark A Halloran, Paul A Gleeson, Ian P Blair, Kai Y Soo, Anna E King, Julie D Atki. C9ORF72, implicated in amytrophic lateral sclerosis and frontotemporal dementia, regulates endosomal trafficking. Human molecular genetics. vol 26. issue 20. 2019-11-20. PMID:28973528. |
c9orf72, implicated in amytrophic lateral sclerosis and frontotemporal dementia, regulates endosomal trafficking. |
2019-11-20 |
2023-08-13 |
Not clear |
| Shizuka B Yamada, Tania F Gendron, Teresa Niccoli, Naomi R Genuth, Rosslyn Grosely, Yingxiao Shi, Idoia Glaria, Nicholas J Kramer, Lisa Nakayama, Shirleen Fang, Tai J I Dinger, Annora Thoeng, Gabriel Rocha, Maria Barna, Joseph D Puglisi, Linda Partridge, Justin K Ichida, Adrian M Isaacs, Leonard Petrucelli, Aaron D Gitle. RPS25 is required for efficient RAN translation of C9orf72 and other neurodegenerative disease-associated nucleotide repeats. Nature neuroscience. vol 22. issue 9. 2019-11-06. PMID:31358992. |
nucleotide repeat expansions in the c9orf72 gene are the most common cause of amyotrophic lateral sclerosis and frontotemporal dementia. |
2019-11-06 |
2023-08-13 |
Not clear |
| Anna Corrionero, H Robert Horvit. A C9orf72 ALS/FTD Ortholog Acts in Endolysosomal Degradation and Lysosomal Homeostasis. Current biology : CB. vol 28. issue 10. 2019-10-15. PMID:29731301. |
the most common genetic cause of amyotrophic lateral sclerosis (als) and frontotemporal dementia (ftd) is the expansion of a hexanucleotide repeat in a non-coding region of the gene c9orf72. |
2019-10-15 |
2023-08-13 |
human |
| Wangchao Xu, Jin X. C9orf72 Dipeptide Repeats Cause Selective Neurodegeneration and Cell-Autonomous Excitotoxicity in The Journal of neuroscience : the official journal of the Society for Neuroscience. vol 38. issue 35. 2019-10-15. PMID:30037833. |
c9orf72 dipeptide repeats cause selective neurodegeneration and cell-autonomous excitotoxicity in the arginine-rich dipeptide repeats (dprs) are highly toxic products from the c9orf72 repeat expansion mutations, which are the most common causes of familial amyotrophic lateral sclerosis (als) and frontotemporal dementia (ftd). |
2019-10-15 |
2023-08-13 |
Not clear |
| Marta Gromicho, Susana Pinto, Eugeniu Gisca, Ana Catarina Pronto-Laborinho, Peter M Andersen, Mamede de Carvalh. Frequency of C9orf72 hexanucleotide repeat expansion and SOD1 mutations in Portuguese patients with amyotrophic lateral sclerosis. Neurobiology of aging. vol 70. 2019-09-27. PMID:29861044. |
the c9orf72 hexanucleotide repeat expansion was the commonest abnormality, accounting for 4.6% of sporadic als and 37.5% of fals; in these patients, frontotemporal dementia was prevalent. |
2019-09-27 |
2023-08-13 |
Not clear |
| S Llamas-Velasco, A García-Redondo, A Herrero-San Martín, V Puertas Martín, M González-Sánchez, D A Pérez-Martínez, A Villarejo-Galend. Slowly progressive behavioral frontotemporal dementia with C9orf72 mutation. Case report and review of the literature. Neurocase. vol 24. issue 1. 2019-09-09. PMID:29355451. |
slowly progressive behavioral frontotemporal dementia with c9orf72 mutation. |
2019-09-09 |
2023-08-13 |
Not clear |
| Zongbing Hao, Liu Liu, Zhouteng Tao, Rui Wang, Haigang Ren, Hongyang Sun, Zixuan Lin, Zhixiong Zhang, Chenchen Mu, Jiawei Zhou, Guanghui Wan. Motor dysfunction and neurodegeneration in a C9orf72 mouse line expressing poly-PR. Nature communications. vol 10. issue 1. 2019-09-09. PMID:31266945. |
a ggggcc hexanucleotide repeat expansion in intron 1 of chromosome 9 open reading frame 72 (c9orf72) gene is the most common genetic cause of amyotrophic lateral sclerosis (als) and frontotemporal dementia. |
2019-09-09 |
2023-08-13 |
mouse |
| Yoshifumi Sonobe, Ghanashyam Ghadge, Katsuhisa Masaki, Ataman Sendoel, Elaine Fuchs, Raymond P Roo. Translation of dipeptide repeat proteins from the C9ORF72 expanded repeat is associated with cellular stress. Neurobiology of disease. vol 116. 2019-09-06. PMID:29792928. |
expansion of a hexanucleotide repeat (hre), ggggcc, in the c9orf72 gene is recognized as the most common cause of familial amyotrophic lateral sclerosis (fals), frontotemporal dementia (ftd) and als-ftd, as well as 5-10% of sporadic als. |
2019-09-06 |
2023-08-13 |
Not clear |
| Rubika Balendra, Adrian M Isaac. C9orf72-mediated ALS and FTD: multiple pathways to disease. Nature reviews. Neurology. vol 14. issue 9. 2019-08-28. PMID:30120348. |
the discovery that repeat expansions in the c9orf72 gene are a frequent cause of amyotrophic lateral sclerosis (als) and frontotemporal dementia (ftd) has revolutionized our understanding of these diseases. |
2019-08-28 |
2023-08-13 |
Not clear |
| 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 |