| Publication |
Sentence |
Publish Date |
Extraction Date |
Species |
| Shouta Kitano, Yoshihiro Kino, Yoji Yamamoto, Mika Takitani, Junko Miyoshi, Tsuyoshi Ishida, Yuko Saito, Kunimasa Arima, Jun-Ichi Sato. Bioinformatics Data Mining Approach Suggests Coexpression of AGTPBP1 with an ALS-linked Gene C9orf72. Journal of central nervous system disease. vol 7. 2015-06-24. PMID:26106267. |
expanded ggggcc hexanucleotide repeats located in the noncoding region of the chromosome 9 open reading frame 72 (c9orf72) gene represent the most common genetic abnormality for familial and sporadic amyotrophic lateral sclerosis (als) and frontotemporal dementia (ftd). |
2015-06-24 |
2023-08-13 |
Not clear |
| Veronique V Belzil, Peter O Bauer, Tania F Gendron, Melissa E Murray, Dennis Dickson, Leonard Petrucell. Characterization of DNA hypermethylation in the cerebellum of c9FTD/ALS patients. Brain research. vol 1584. 2015-05-27. PMID:24530272. |
a significant number of patients suffering from amyotrophic lateral sclerosis (als) and frontotemporal dementia (ftd), two diseases commonly seen in comorbidity, carry an expanded noncoding hexanucleotide repeat in the c9orf72 gene, a condition collectively referred to as c9ftd/als. |
2015-05-27 |
2023-08-12 |
Not clear |
| Jason C Grigg, Nisreen Shumayrikh, Dipankar Se. G-quadruplex structures formed by expanded hexanucleotide repeat RNA and DNA from the neurodegenerative disease-linked C9orf72 gene efficiently sequester and activate heme. PloS one. vol 9. issue 9. 2015-05-21. PMID:25207541. |
the expansion of a (g(4)c(2))n repeat within the human c9orf72 gene has been causally linked to a number of neurodegenerative diseases, most notably familial amyotrophic lateral sclerosis (als) and frontotemporal dementia (ftd). |
2015-05-21 |
2023-08-13 |
human |
| Yong-Jie Zhang, Karen Jansen-West, Ya-Fei Xu, Tania F Gendron, Kevin F Bieniek, Wen-Lang Lin, Hiroki Sasaguri, Thomas Caulfield, Jaime Hubbard, Lillian Daughrity, Jeannie Chew, Veronique V Belzil, Mercedes Prudencio, Jeannette N Stankowski, Monica Castanedes-Casey, Ena Whitelaw, Peter E A Ash, Michael DeTure, Rosa Rademakers, Kevin B Boylan, Dennis W Dickson, Leonard Petrucell. Aggregation-prone c9FTD/ALS poly(GA) RAN-translated proteins cause neurotoxicity by inducing ER stress. Acta neuropathologica. vol 128. issue 4. 2015-05-15. PMID:25173361. |
such disorders include amyotrophic lateral sclerosis and frontotemporal dementia caused by a hexanucleotide repeat expansion in the c9orf72 gene (c9ftd/als). |
2015-05-15 |
2023-08-13 |
Not clear |
| Andrew Sommerlad, James Lee, Jason Warren, Gary Pric. Neurodegenerative disorder masquerading as psychosis in a forensic psychiatry setting. BMJ case reports. vol 2014. 2015-05-14. PMID:24928930. |
mri of the brain revealed asymmetrical parieto-occipital volume loss and genetic testing demonstrated a pathogenic expansion of the chromosome 9 open reading frame 72 (c9orf72) gene consistent with familial frontotemporal dementia caused by a hexanucleotide repeat expansion at c9orf72, a recently discovered cause of familial frontotemporal dementia/motor neuron disease. |
2015-05-14 |
2023-08-13 |
Not clear |
| Sarah Mizielinska, Adrian M Isaac. C9orf72 amyotrophic lateral sclerosis and frontotemporal dementia: gain or loss of function? Current opinion in neurology. vol 27. issue 5. 2015-05-12. PMID:25188012. |
c9orf72 amyotrophic lateral sclerosis and frontotemporal dementia: gain or loss of function? |
2015-05-12 |
2023-08-13 |
Not clear |
| Sarah Mizielinska, Adrian M Isaac. C9orf72 amyotrophic lateral sclerosis and frontotemporal dementia: gain or loss of function? Current opinion in neurology. vol 27. issue 5. 2015-05-12. PMID:25188012. |
the molecular mechanisms that underlie chromosome 9 open reading frame 72 (c9orf72)-associated amyotrophic lateral sclerosis and frontotemporal dementia are rapidly emerging. |
2015-05-12 |
2023-08-13 |
Not clear |
| Jonathan D Rohrer, Adrian M Isaacs, Sarah Mizielinska, Simon Mead, Tammaryn Lashley, Selina Wray, Katie Sidle, Pietro Fratta, Richard W Orrell, John Hardy, Janice Holton, Tamas Revesz, Martin N Rossor, Jason D Warre. C9orf72 expansions in frontotemporal dementia and amyotrophic lateral sclerosis. The Lancet. Neurology. vol 14. issue 3. 2015-04-28. PMID:25638642. |
c9orf72 expansions in frontotemporal dementia and amyotrophic lateral sclerosis. |
2015-04-28 |
2023-08-13 |
Not clear |
| Jonathan D Rohrer, Adrian M Isaacs, Sarah Mizielinska, Simon Mead, Tammaryn Lashley, Selina Wray, Katie Sidle, Pietro Fratta, Richard W Orrell, John Hardy, Janice Holton, Tamas Revesz, Martin N Rossor, Jason D Warre. C9orf72 expansions in frontotemporal dementia and amyotrophic lateral sclerosis. The Lancet. Neurology. vol 14. issue 3. 2015-04-28. PMID:25638642. |
c9orf72 hexanucleotide repeat expansions are the most common cause of familial frontotemporal dementia (ftd) and amyotrophic lateral sclerosis (als) worldwide. |
2015-04-28 |
2023-08-13 |
Not clear |
| Xinmei Wen, Wenzhi Tan, Thomas Westergard, Karthik Krishnamurthy, Shashirekha S Markandaiah, Yingxiao Shi, Shaoyu Lin, Neil A Shneider, John Monaghan, Udai B Pandey, Piera Pasinelli, Justin K Ichida, Davide Trott. Antisense proline-arginine RAN dipeptides linked to C9ORF72-ALS/FTD form toxic nuclear aggregates that initiate in vitro and in vivo neuronal death. Neuron. vol 84. issue 6. 2015-04-09. PMID:25521377. |
expanded ggggcc (g4c2) nucleotide repeats within the c9orf72 gene are the most common genetic mutation associated with both amyotrophic lateral sclerosis (als) and frontotemporal dementia (ftd). |
2015-04-09 |
2023-08-13 |
human |
| Marka van Blitterswijk, Bianca Mullen, Aleksandra Wojtas, Michael G Heckman, Nancy N Diehl, Matthew C Baker, Mariely DeJesus-Hernandez, Patricia H Brown, Melissa E Murray, Ging-Yuek R Hsiung, Heather Stewart, Anna M Karydas, Elizabeth Finger, Andrew Kertesz, Eileen H Bigio, Sandra Weintraub, Marsel Mesulam, Kimmo J Hatanpaa, Charles L White, Manuela Neumann, Michael J Strong, Thomas G Beach, Zbigniew K Wszolek, Carol Lippa, Richard Caselli, Leonard Petrucelli, Keith A Josephs, Joseph E Parisi, David S Knopman, Ronald C Petersen, Ian R Mackenzie, William W Seeley, Lea T Grinberg, Bruce L Miller, Kevin B Boylan, Neill R Graff-Radford, Bradley F Boeve, Dennis W Dickson, Rosa Rademaker. Genetic modifiers in carriers of repeat expansions in the C9ORF72 gene. Molecular neurodegeneration. vol 9. 2015-03-30. PMID:25239657. |
hexanucleotide repeat expansions in chromosome 9 open reading frame 72 (c9orf72) are causative for frontotemporal dementia (ftd) and motor neuron disease (mnd). |
2015-03-30 |
2023-08-13 |
Not clear |
| Marzena Wojciechowska, Marta Olejniczak, Paulina Galka-Marciniak, Magdalena Jazurek, Wlodzimierz J Krzyzosia. RAN translation and frameshifting as translational challenges at simple repeats of human neurodegenerative disorders. Nucleic acids research. vol 42. issue 19. 2015-03-10. PMID:25217582. |
the boundary between such classifications has recently been blurred by the discovery of repeat-associated non-aug (ran) translation reported in spinocerebellar ataxia type 8, myotonic dystrophy type 1, fragile x tremor/ataxia syndrome and c9orf72 amyotrophic lateral sclerosis and frontotemporal dementia. |
2015-03-10 |
2023-08-13 |
human |
| Olga Pletnikova, Kelly L Sloane, Alan E Renton, Bryan J Traynor, Barbara J Crain, Tammy Reid, Tao Zu, Laura P W Ranum, Juan C Troncoso, Peter V Rabins, Chiadi U Onyik. Hippocampal sclerosis dementia with the C9ORF72 hexanucleotide repeat expansion. Neurobiology of aging. vol 35. issue 10. 2015-02-09. PMID:24819148. |
frontotemporal dementia (ftd) and amyotrophic lateral sclerosis (als) are the main syndromes of the chromosome 9 orf72 (c9orf72) hexanucleotide repeat expansion, but studies have shown a substantial phenotypic diversity that includes psychiatric presentations. |
2015-02-09 |
2023-08-13 |
Not clear |
| Marka van Blitterswijk, Bianca Mullen, Michael G Heckman, Matthew C Baker, Mariely DeJesus-Hernandez, Patricia H Brown, Melissa E Murray, Ging-Yuek R Hsiung, Heather Stewart, Anna M Karydas, Elizabeth Finger, Andrew Kertesz, Eileen H Bigio, Sandra Weintraub, Marsel Mesulam, Kimmo J Hatanpaa, Charles L White, Manuela Neumann, Michael J Strong, Thomas G Beach, Zbigniew K Wszolek, Carol Lippa, Richard Caselli, Leonard Petrucelli, Keith A Josephs, Joseph E Parisi, David S Knopman, Ronald C Petersen, Ian R Mackenzie, William W Seeley, Lea T Grinberg, Bruce L Miller, Kevin B Boylan, Neill R Graff-Radford, Bradley F Boeve, Dennis W Dickson, Rosa Rademaker. Ataxin-2 as potential disease modifier in C9ORF72 expansion carriers. Neurobiology of aging. vol 35. issue 10. 2015-02-09. PMID:24866401. |
repeat expansions in chromosome 9 open reading frame 72 (c9orf72) are an important cause of both motor neuron disease (mnd) and frontotemporal dementia (ftd). |
2015-02-09 |
2023-08-13 |
human |
| Suzee E Lee, Anna M Khazenzon, Andrew J Trujillo, Christine C Guo, Jennifer S Yokoyama, Sharon J Sha, Leonel T Takada, Anna M Karydas, Nikolas R Block, Giovanni Coppola, Mochtar Pribadi, Daniel H Geschwind, Rosa Rademakers, Jamie C Fong, Michael W Weiner, Adam L Boxer, Joel H Kramer, Howard J Rosen, Bruce L Miller, William W Seele. Altered network connectivity in frontotemporal dementia with C9orf72 hexanucleotide repeat expansion. Brain : a journal of neurology. vol 137. issue Pt 11. 2015-02-09. PMID:25273996. |
altered network connectivity in frontotemporal dementia with c9orf72 hexanucleotide repeat expansion. |
2015-02-09 |
2023-08-13 |
Not clear |
| Suzee E Lee, Anna M Khazenzon, Andrew J Trujillo, Christine C Guo, Jennifer S Yokoyama, Sharon J Sha, Leonel T Takada, Anna M Karydas, Nikolas R Block, Giovanni Coppola, Mochtar Pribadi, Daniel H Geschwind, Rosa Rademakers, Jamie C Fong, Michael W Weiner, Adam L Boxer, Joel H Kramer, Howard J Rosen, Bruce L Miller, William W Seele. Altered network connectivity in frontotemporal dementia with C9orf72 hexanucleotide repeat expansion. Brain : a journal of neurology. vol 137. issue Pt 11. 2015-02-09. PMID:25273996. |
hexanucleotide repeat expansion in c9orf72 represents the most common genetic cause of familial and sporadic behavioural variant frontotemporal dementia. |
2015-02-09 |
2023-08-13 |
Not clear |
| Suzee E Lee, Anna M Khazenzon, Andrew J Trujillo, Christine C Guo, Jennifer S Yokoyama, Sharon J Sha, Leonel T Takada, Anna M Karydas, Nikolas R Block, Giovanni Coppola, Mochtar Pribadi, Daniel H Geschwind, Rosa Rademakers, Jamie C Fong, Michael W Weiner, Adam L Boxer, Joel H Kramer, Howard J Rosen, Bruce L Miller, William W Seele. Altered network connectivity in frontotemporal dementia with C9orf72 hexanucleotide repeat expansion. Brain : a journal of neurology. vol 137. issue Pt 11. 2015-02-09. PMID:25273996. |
previous studies show that some c9orf72 carriers with behavioural variant frontotemporal dementia exhibit distinctive atrophy patterns whereas others show mild or undetectable atrophy despite severe behavioural impairment. |
2015-02-09 |
2023-08-13 |
Not clear |
| Suzee E Lee, Anna M Khazenzon, Andrew J Trujillo, Christine C Guo, Jennifer S Yokoyama, Sharon J Sha, Leonel T Takada, Anna M Karydas, Nikolas R Block, Giovanni Coppola, Mochtar Pribadi, Daniel H Geschwind, Rosa Rademakers, Jamie C Fong, Michael W Weiner, Adam L Boxer, Joel H Kramer, Howard J Rosen, Bruce L Miller, William W Seele. Altered network connectivity in frontotemporal dementia with C9orf72 hexanucleotide repeat expansion. Brain : a journal of neurology. vol 137. issue Pt 11. 2015-02-09. PMID:25273996. |
we studied 28 patients with behavioural variant frontotemporal dementia, including 14 c9orf72 mutation carriers (age 58.3 ± 7.7 years, four females) and 14 non-carriers (age 60.8 ± 6.9 years, four females), and 14 age- and sex-matched healthy controls. |
2015-02-09 |
2023-08-13 |
Not clear |
| Suzee E Lee, Anna M Khazenzon, Andrew J Trujillo, Christine C Guo, Jennifer S Yokoyama, Sharon J Sha, Leonel T Takada, Anna M Karydas, Nikolas R Block, Giovanni Coppola, Mochtar Pribadi, Daniel H Geschwind, Rosa Rademakers, Jamie C Fong, Michael W Weiner, Adam L Boxer, Joel H Kramer, Howard J Rosen, Bruce L Miller, William W Seele. Altered network connectivity in frontotemporal dementia with C9orf72 hexanucleotide repeat expansion. Brain : a journal of neurology. vol 137. issue Pt 11. 2015-02-09. PMID:25273996. |
the findings suggest that patients with behavioural variant frontotemporal dementia with or without the c9orf72 expansion show convergent large-scale network breakdowns despite distinctive atrophy patterns. |
2015-02-09 |
2023-08-13 |
Not clear |
| Suzee E Lee, Anna M Khazenzon, Andrew J Trujillo, Christine C Guo, Jennifer S Yokoyama, Sharon J Sha, Leonel T Takada, Anna M Karydas, Nikolas R Block, Giovanni Coppola, Mochtar Pribadi, Daniel H Geschwind, Rosa Rademakers, Jamie C Fong, Michael W Weiner, Adam L Boxer, Joel H Kramer, Howard J Rosen, Bruce L Miller, William W Seele. Altered network connectivity in frontotemporal dementia with C9orf72 hexanucleotide repeat expansion. Brain : a journal of neurology. vol 137. issue Pt 11. 2015-02-09. PMID:25273996. |
medial pulvinar degeneration may contribute to the behavioural variant frontotemporal dementia syndrome in c9orf72 carriers by disrupting salience network connectivity. |
2015-02-09 |
2023-08-13 |
Not clear |