| Publication |
Sentence |
Publish Date |
Extraction Date |
Species |
| Daniel A Mordes, Brett M Morrison, Xanthe H Ament, Christopher Cantrell, Joanie Mok, Pierce Eggan, Carolyn Xue, Jin-Yuan Wang, Kevin Eggan, Jeffrey D Rothstei. Absence of Survival and Motor Deficits in 500 Repeat C9ORF72 BAC Mice. Neuron. vol 108. issue 4. 2021-01-22. PMID:33022228. |
a hexanucleotide repeat expansion at c9orf72 is the most common genetic cause of amyotrophic lateral sclerosis (als)/frontotemporal dementia (ftd). |
2021-01-22 |
2023-08-13 |
mouse |
| Pin-Tse Lee, Jean-Charles Liévens, Shao-Ming Wang, Jian-Ying Chuang, Bilal Khalil, Hsiang-En Wu, Wen-Chang Chang, Tangui Maurice, Tsung-Ping S. Sigma-1 receptor chaperones rescue nucleocytoplasmic transport deficit seen in cellular and Drosophila ALS/FTD models. Nature communications. vol 11. issue 1. 2020-12-04. PMID:33149115. |
in a subgroup of patients with amyotrophic lateral sclerosis (als)/frontotemporal dementia (ftd), the (g4c2)-rna repeat expansion from c9orf72 chromosome binds to the ran-activating protein (rangap) at the nuclear pore, resulting in nucleocytoplasmic transport deficit and accumulation of ran in the cytosol. |
2020-12-04 |
2023-08-13 |
drosophila_melanogaster |
| Melissa Nassif, Ute Woehlbier, Patricio A Manqu. The Enigmatic Role of C9ORF72 in Autophagy. Frontiers in neuroscience. vol 11. 2020-09-30. PMID:28824365. |
advances in large-scale genetics and genomics have revealed intronic hexanucleotide repeat expansions in the gene encoding c9orf72 as a main genetic cause of als and frontotemporal dementia (ftd), the second most common cause of early-onset dementia after alzheimer's disease. |
2020-09-30 |
2023-08-13 |
Not clear |
| Jie Jiang, John Ravit. Pathogenic Mechanisms and Therapy Development for C9orf72 Amyotrophic Lateral Sclerosis/Frontotemporal Dementia. Neurotherapeutics : the journal of the American Society for Experimental NeuroTherapeutics. vol 16. issue 4. 2020-08-24. PMID:31667754. |
pathogenic mechanisms and therapy development for c9orf72 amyotrophic lateral sclerosis/frontotemporal dementia. |
2020-08-24 |
2023-08-13 |
human |
| Karri Kaivola, Anna Kiviharju, Lilja Jansson, Ville Rantalainen, Johan G Eriksson, Timo E Strandberg, Hannu Laaksovirta, Alan E Renton, Bryan J Traynor, Liisa Myllykangas, Pentti J Tienar. C9orf72 hexanucleotide repeat length in older population: normal variation and effects on cognition. Neurobiology of aging. vol 84. 2020-08-04. PMID:30979436. |
the hexanucleotide repeat expansion in c9orf72 is a common cause of amyotrophic lateral sclerosis/frontotemporal dementia and also rarely found in other psychiatric and neurodegenerative conditions. |
2020-08-04 |
2023-08-13 |
Not clear |
| Isabel C Hostettler, Manuel Bernal-Quiros, Andrew Wong, Nikhil Sharma, Duncan Wilson, David J Seiffge, Clare Shakeshaft, Hans R Jäger, Hannah Cohen, Tarek Yousry, Rustam Al-Shahi Salman, Gregory Y H Lip, Martin M Brown, Keith W Muir, David J Werring, Henry Houlde. C9orf72 and intracerebral hemorrhage. Neurobiology of aging. vol 84. 2020-08-04. PMID:31582231. |
because the mechanisms of cognitive impairment in patients with ich are uncertain, we investigated whether c9orf72 could influence dementia risk in this patient group. |
2020-08-04 |
2023-08-13 |
Not clear |
| Isabel C Hostettler, Manuel Bernal-Quiros, Andrew Wong, Nikhil Sharma, Duncan Wilson, David J Seiffge, Clare Shakeshaft, Hans R Jäger, Hannah Cohen, Tarek Yousry, Rustam Al-Shahi Salman, Gregory Y H Lip, Martin M Brown, Keith W Muir, David J Werring, Henry Houlde. C9orf72 and intracerebral hemorrhage. Neurobiology of aging. vol 84. 2020-08-04. PMID:31582231. |
we did not find any association between c9orf72 repeat expansion and repeat size with ich compared with controls or with dementia when assessing ich patients only. |
2020-08-04 |
2023-08-13 |
Not clear |
| Maurizio Gallucci, Carola Dell'Acqua, Cristina Bergamelli, Chiara Fenoglio, Maria Serpente, Daniela Galimberti, Vittorio Fiore, Stefano Medea, Michele Gregianin, Maria Elena Di Battist. A Case with Early Onset Alzheimer's Disease, Frontotemporal Hypometabolism, ApoE Genotype ɛ4/ɛ4 and C9ORF72 Intermediate Expansion: A Treviso Dementia (TREDEM) Registry Case Report. Journal of Alzheimer's disease : JAD. vol 67. issue 3. 2020-05-29. PMID:30714955. |
a case with early onset alzheimer's disease, frontotemporal hypometabolism, apoe genotype ɛ4/ɛ4 and c9orf72 intermediate expansion: a treviso dementia (tredem) registry case report. |
2020-05-29 |
2023-08-13 |
Not clear |
| Francesco Paonessa, Lewis D Evans, Ravi Solanki, Delphine Larrieu, Selina Wray, John Hardy, Stephen P Jackson, Frederick J Livese. Microtubules Deform the Nuclear Membrane and Disrupt Nucleocytoplasmic Transport in Tau-Mediated Frontotemporal Dementia. Cell reports. vol 26. issue 3. 2020-04-09. PMID:30650353. |
defects in nucleocytoplasmic transport in ftd point to important commonalities in the pathogenic mechanisms of tau-mediated dementias and als-ftd due to tdp-43 and c9orf72 mutations. |
2020-04-09 |
2023-08-13 |
human |
| Hiroyuki Tomiyam. [Impact of C9orf72 on Japanese Patients with Amytrophic Lateral Sclerosis (ALS)/Frontotemporal Dementia (FTD)]. Brain and nerve = Shinkei kenkyu no shinpo. vol 71. issue 11. 2019-11-21. PMID:31722305. |
[impact of c9orf72 on japanese patients with amytrophic lateral sclerosis (als)/frontotemporal dementia (ftd)]. |
2019-11-21 |
2023-08-13 |
Not clear |
| Hiroyuki Tomiyam. [Impact of C9orf72 on Japanese Patients with Amytrophic Lateral Sclerosis (ALS)/Frontotemporal Dementia (FTD)]. Brain and nerve = Shinkei kenkyu no shinpo. vol 71. issue 11. 2019-11-21. PMID:31722305. |
in 2011, c9orf72 hexanucleotide (ggggcc) repeat expansion (hre) in intron 1 was reported as the most common cause of sporadic and familial amyotrophic lateral sclerosis (als)/frontotemporal dementia (ftd) in the caucasian population. |
2019-11-21 |
2023-08-13 |
Not clear |
| Matthew P Shaw, Adrian Higginbottom, Alexander McGown, Lydia M Castelli, Evlyn James, Guillaume M Hautbergue, Pamela J Shaw, Tennore M Rames. Stable transgenic C9orf72 zebrafish model key aspects of the ALS/FTD phenotype and reveal novel pathological features. Acta neuropathologica communications. vol 6. issue 1. 2019-06-03. PMID:30454072. |
a hexanucleotide repeat expansion (hre) within the chromosome 9 open reading frame 72 (c9orf72) gene is the most prevalent cause of amyotrophic lateral sclerosis/fronto-temporal dementia (als/ftd). |
2019-06-03 |
2023-08-13 |
human |
| 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. |
phenotypic variability and neuropsychological findings associated with c9orf72 repeat expansions in a bulgarian dementia cohort. |
2019-05-06 |
2023-08-13 |
Not clear |
| 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 objective of this study was to determine the frequency of c9orf72 repeat expansions in a bulgarian dementia cohort and to delineate the associated clinical features. |
2019-05-06 |
2023-08-13 |
Not clear |
| John Douglas Cleary, Amrutha Pattamatta, Laura P W Ranu. Repeat-associated non-ATG (RAN) translation. The Journal of biological chemistry. vol 293. issue 42. 2019-03-20. PMID:30213863. |
microsatellite expansions cause more than 40 neurological disorders, including huntington's disease, myotonic dystrophy, and c9orf72 amyotrophic lateral sclerosis/frontotemporal dementia (als/ftd). |
2019-03-20 |
2023-08-13 |
Not clear |
| Petra Pasanen, Liisa Myllykangas, Minna Pöyhönen, Anna Kiviharju, Maija Siitonen, John Hardy, Jose Bras, Anders Paetau, Pentti J Tienari, Rita Guerreiro, Auli Verkkoniemi-Ahol. Genetics of dementia in a Finnish cohort. European journal of human genetics : EJHG. vol 26. issue 6. 2019-02-21. PMID:29476165. |
our aim was to clarify the genetic background of dementia in this cohort by analysing both known dementia-associated genes (apoe, app, c9orf72, grn, psen1 and psen2) and searching for rare or novel segregating variants with exome sequencing. |
2019-02-21 |
2023-08-13 |
human |
| Mfon E Umoh, Eric B Dammer, Jingting Dai, Duc M Duong, James J Lah, Allan I Levey, Marla Gearing, Jonathan D Glass, Nicholas T Seyfrie. A proteomic network approach across the ALS-FTD disease spectrum resolves clinical phenotypes and genetic vulnerability in human brain. EMBO molecular medicine. vol 10. issue 1. 2019-01-28. PMID:29191947. |
a module enriched with astrocyte and microglia proteins was significantly increased in als cases carrying the c9orf72 mutation compared to sporadic als cases, suggesting that the genetic expansion is associated with inflammation in the brain even without clinical evidence of dementia. |
2019-01-28 |
2023-08-13 |
human |
| Henry Paulso. Repeat expansion diseases. Handbook of clinical neurology. vol 147. 2018-07-26. PMID:29325606. |
repeat expansion diseases include both causes of myotonic dystrophy (dm1 and dm2), the most common genetic cause of amyotrophic lateral sclerosis/frontotemporal dementia (c9orf72), huntington disease, and eight other polyglutamine disorders, including the most common forms of dominantly inherited ataxia, the most common recessive ataxia (friedreich ataxia), and the most common heritable mental retardation (fragile x syndrome). |
2018-07-26 |
2023-08-13 |
human |
| Jennifer A Fifita, Katharine Y Zhang, Jasmin Galper, Kelly L Williams, Emily P McCann, Alison L Hogan, Neil Saunders, Denis Bauer, Ingrid S Tarr, Roger Pamphlett, Garth A Nicholson, Dominic Rowe, Shu Yang, Ian P Blai. Genetic and Pathological Assessment of hnRNPA1, hnRNPA2/B1, and hnRNPA3 in Familial and Sporadic Amyotrophic Lateral Sclerosis. Neuro-degenerative diseases. vol 17. issue 6. 2018-07-24. PMID:29131108. |
another hnrnp protein, hnrnpa3, has been found to be associated with the als/frontotemporal dementia protein c9orf72. |
2018-07-24 |
2023-08-13 |
Not clear |
| J Lagarde, M Sarazi. [Reconciliating neurology and psychiatry: The prototypical case of frontotemporal dementia]. L'Encephale. vol 43. issue 5. 2018-05-29. PMID:27772665. |
c9orf72 gene mutation is often associated with a family history of dementia or motor neuron disease but also of psychiatric disorders. |
2018-05-29 |
2023-08-13 |
Not clear |