| Publication |
Sentence |
Publish Date |
Extraction Date |
Species |
| Tammaryn Lashley, Jonathan D Rohrer, Colin Mahoney, Elizabeth Gordon, Jon Beck, Simon Mead, Jason Warren, Martin Rossor, Tamas Reves. A pathogenic progranulin mutation and C9orf72 repeat expansion in a family with frontotemporal dementia. Neuropathology and applied neurobiology. vol 40. issue 4. 2015-01-30. PMID:24286341. |
a pathogenic progranulin mutation and c9orf72 repeat expansion in a family with frontotemporal dementia. |
2015-01-30 |
2023-08-12 |
Not clear |
| 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 23. issue 13. 2015-01-26. PMID:24549040. |
c9orf72, implicated in amytrophic lateral sclerosis and frontotemporal dementia, regulates endosomal trafficking. |
2015-01-26 |
2023-08-12 |
human |
| 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 23. issue 13. 2015-01-26. PMID:24549040. |
intronic expansion of a hexanucleotide ggggcc repeat in the chromosome 9 open reading frame 72 (c9orf72) gene is the major cause of familial amyotrophic lateral sclerosis (als) and frontotemporal dementia. |
2015-01-26 |
2023-08-12 |
human |
| Peter Heutink, Iris E Jansen, Emily M Lyne. C9orf72; abnormal RNA expression is the key. Experimental neurology. vol 262 Pt B. 2015-01-26. PMID:24873727. |
an expanded ggggcc hexanucleotide repeat in the first intron located between the 1st and 2nd non-coding exons of c9orf72 is the most frequent cause of frontotemporal dementia (ftd) and amyothropic lateral sclerosis (als). |
2015-01-26 |
2023-08-13 |
Not clear |
| Chizuru Akimoto, Alexander E Volk, Marka van Blitterswijk, Marleen Van den Broeck, Claire S Leblond, Serge Lumbroso, William Camu, Birgit Neitzel, Osamu Onodera, Wouter van Rheenen, Susana Pinto, Markus Weber, Bradley Smith, Melanie Proven, Kevin Talbot, Pamela Keagle, Alessandra Chesi, Antonia Ratti, Julie van der Zee, Helena Alstermark, Anna Birve, Daniela Calini, Angelica Nordin, Daniela C Tradowsky, Walter Just, Hussein Daoud, Sabrina Angerbauer, Mariely DeJesus-Hernandez, Takuya Konno, Anjali Lloyd-Jani, Mamede de Carvalho, Kevin Mouzat, John E Landers, Jan H Veldink, Vincenzo Silani, Aaron D Gitler, Christopher E Shaw, Guy A Rouleau, Leonard H van den Berg, Christine Van Broeckhoven, Rosa Rademakers, Peter M Andersen, Christian Kubisc. A blinded international study on the reliability of genetic testing for GGGGCC-repeat expansions in C9orf72 reveals marked differences in results among 14 laboratories. Journal of medical genetics. vol 51. issue 6. 2015-01-21. PMID:24706941. |
the ggggcc-repeat expansion in c9orf72 is the most frequent mutation found in patients with amyotrophic lateral sclerosis (als) and frontotemporal dementia (ftd). |
2015-01-21 |
2023-08-13 |
Not clear |
| Kaalak Reddy, Monika H M Schmidt, Jaimie M Geist, Neha P Thakkar, Gagan B Panigrahi, Yuh-Hwa Wang, Christopher E Pearso. Processing of double-R-loops in (CAG)·(CTG) and C9orf72 (GGGGCC)·(GGCCCC) repeats causes instability. Nucleic acids research. vol 42. issue 16. 2015-01-20. PMID:25147206. |
double-r-loop formation and processing to instability was extended to the expanded c9orf72 (ggggcc)·(ggcccc) repeats, known to cause amyotrophic lateral sclerosis and frontotemporal dementia, providing the first suggestion through which these repeats may become unstable. |
2015-01-20 |
2023-08-13 |
human |
| Anna-Lotta Kaivorinne, Virpi Moilanen, Marko Kervinen, Alan E Renton, Bryan J Traynor, Kari Majamaa, Anne M Reme. Novel TARDBP sequence variant and C9ORF72 repeat expansion in a family with frontotemporal dementia. Alzheimer disease and associated disorders. vol 28. issue 2. 2015-01-02. PMID:22892647. |
novel tardbp sequence variant and c9orf72 repeat expansion in a family with frontotemporal dementia. |
2015-01-02 |
2023-08-12 |
Not clear |
| Yvonne S Davidson, Holly Barker, Andrew C Robinson, Jennifer C Thompson, Jenny Harris, Claire Troakes, Bradley Smith, Safa Al-Saraj, Chris Shaw, Sara Rollinson, Masami Masuda-Suzukake, Masato Hasegawa, Stuart Pickering-Brown, Julie S Snowden, David M Man. Brain distribution of dipeptide repeat proteins in frontotemporal lobar degeneration and motor neurone disease associated with expansions in C9ORF72. Acta neuropathologica communications. vol 2. 2014-12-08. PMID:24950788. |
consequently, we compared the topographic brain distribution of dpr in 8 patients with frontotemporal dementia (ftd), 6 with ftd + mnd and 7 with mnd alone (all 21 patients bearing expansions in c9orf72) using a polyclonal antibody to poly-ga, and related this to the extent of tdp-43 pathology in key regions of cerebral cortex and hippocampus. |
2014-12-08 |
2023-08-13 |
Not clear |
| Ciara Fahey, Susan Byrne, Russell McLaughlin, Kevin Kenna, Aleksey Shatunov, Gary Donohoe, Michael Gill, Ammar Al-Chalabi, Daniel G Bradley, Orla Hardiman, Aiden P Corvin, Derek W Morri. Analysis of the hexanucleotide repeat expansion and founder haplotype at C9ORF72 in an Irish psychosis case-control sample. Neurobiology of aging. vol 35. issue 6. 2014-11-25. PMID:24411481. |
the hexonucleotide repeat expansion 'ggggcc' at the c9orf72 gene has been strongly linked with amyotrophic lateral sclerosis and frontotemporal dementia. |
2014-11-25 |
2023-08-12 |
Not clear |
| N Geevasinga, J R Burrell, M Hibbert, S Vucic, K N. C9ORF72 familial motor neuron disease - frontotemporal dementia associated with lung adenocarcinoma and anti-Ma2/Ta antibodies: a chance association? European journal of neurology. vol 21. issue 4. 2014-11-06. PMID:24628901. |
c9orf72 familial motor neuron disease - frontotemporal dementia associated with lung adenocarcinoma and anti-ma2/ta antibodies: a chance association? |
2014-11-06 |
2023-08-12 |
Not clear |
| Zhaoming Su, Yongjie Zhang, Tania F Gendron, Peter O Bauer, Jeannie Chew, Wang-Yong Yang, Erik Fostvedt, Karen Jansen-West, Veronique V Belzil, Pamela Desaro, Amelia Johnston, Karen Overstreet, Seok-Yoon Oh, Peter K Todd, James D Berry, Merit E Cudkowicz, Bradley F Boeve, Dennis Dickson, Mary Kay Floeter, Bryan J Traynor, Claudia Morelli, Antonia Ratti, Vincenzo Silani, Rosa Rademakers, Robert H Brown, Jeffrey D Rothstein, Kevin B Boylan, Leonard Petrucelli, Matthew D Disne. Discovery of a biomarker and lead small molecules to target r(GGGGCC)-associated defects in c9FTD/ALS. Neuron. vol 83. issue 5. 2014-11-03. PMID:25132468. |
a repeat expansion in c9orf72 causes frontotemporal dementia and amyotrophic lateral sclerosis (c9ftd/als). |
2014-11-03 |
2023-08-13 |
Not clear |
| Serena Lattante, Stéphanie Millecamps, Giovanni Stevanin, Sophie Rivaud-Péchoux, Carine Moigneu, Agnès Camuzat, Sandra Da Barroca, Emeline Mundwiller, Philippe Couarch, François Salachas, Didier Hannequin, Vincent Meininger, Florence Pasquier, Danielle Seilhean, Philippe Couratier, Véronique Danel-Brunaud, Anne-Marie Bonnet, Christine Tranchant, Eric LeGuern, Alexis Brice, Isabelle Le Ber, Edor Kabash. Contribution of ATXN2 intermediary polyQ expansions in a spectrum of neurodegenerative disorders. Neurology. vol 83. issue 11. 2014-10-31. PMID:25098532. |
the aim of this study was to establish the frequency of atxn2 polyglutamine (polyq) expansion in large cohorts of patients with amyotrophic lateral sclerosis (als), frontotemporal dementia (ftd), and progressive supranuclear palsy (psp), and to evaluate whether atxn2 could act as a modifier gene in patients carrying the c9orf72 expansion. |
2014-10-31 |
2023-08-13 |
Not clear |
| Oriol Dols-Icardo, Alberto García-Redondo, Ricard Rojas-García, Raquel Sánchez-Valle, Aina Noguera, Estrella Gómez-Tortosa, Pau Pastor, Isabel Hernández, Jesús Esteban-Pérez, Marc Suárez-Calvet, Sofía Antón-Aguirre, Guillermo Amer, Sara Ortega-Cubero, Rafael Blesa, Juan Fortea, Daniel Alcolea, Aura Capdevila, Anna Antonell, Albert Lladó, José Luís Muñoz-Blanco, Jesús S Mora, Lucía Galán-Dávila, Francisco Javier Rodríguez De Rivera, Alberto Lleó, Jordi Clarimó. Characterization of the repeat expansion size in C9orf72 in amyotrophic lateral sclerosis and frontotemporal dementia. Human molecular genetics. vol 23. issue 3. 2014-10-28. PMID:24057670. |
characterization of the repeat expansion size in c9orf72 in amyotrophic lateral sclerosis and frontotemporal dementia. |
2014-10-28 |
2023-08-12 |
Not clear |
| Oriol Dols-Icardo, Alberto García-Redondo, Ricard Rojas-García, Raquel Sánchez-Valle, Aina Noguera, Estrella Gómez-Tortosa, Pau Pastor, Isabel Hernández, Jesús Esteban-Pérez, Marc Suárez-Calvet, Sofía Antón-Aguirre, Guillermo Amer, Sara Ortega-Cubero, Rafael Blesa, Juan Fortea, Daniel Alcolea, Aura Capdevila, Anna Antonell, Albert Lladó, José Luís Muñoz-Blanco, Jesús S Mora, Lucía Galán-Dávila, Francisco Javier Rodríguez De Rivera, Alberto Lleó, Jordi Clarimó. Characterization of the repeat expansion size in C9orf72 in amyotrophic lateral sclerosis and frontotemporal dementia. Human molecular genetics. vol 23. issue 3. 2014-10-28. PMID:24057670. |
hexanucleotide repeat expansions within the c9orf72 gene are the most important genetic cause of amyotrophic lateral sclerosis (als) and frontotemporal dementia (ftd). |
2014-10-28 |
2023-08-12 |
Not clear |
| Ying Liu, Jin-Tai Yu, Yu Zong, Jing Zhou, Lan Ta. C9ORF72 mutations in neurodegenerative diseases. Molecular neurobiology. vol 49. issue 1. 2014-10-27. PMID:23934648. |
recent works have demonstrated an expansion of the ggggcc hexanucleotide repeat in the first intron of chromosome 9 open reading frame 72 (c9orf72), encoding an unknown c9orf72 protein, which was responsible for an unprecedented large proportion of amyotrophic lateral sclerosis (als) and frontotemporal dementia (ftd) cases of european ancestry. |
2014-10-27 |
2023-08-12 |
Not clear |
| A J Larne. Delusion of pregnancy: a case revisited. Behavioural neurology. vol 27. issue 3. 2014-10-26. PMID:23548882. |
a patient with delusion of pregnancy as an early feature of frontotemporal dementia with motor neurone disease (ftd/mnd) who was reported some years ago was posthumously found to harbor the c9orf72 hexanucleotide repeat expansion, now known to be the most common genetic cause of ftd/mnd. |
2014-10-26 |
2023-08-12 |
Not clear |
| Susan Byrne, Mark Heverin, Marwa Elamin, Cathal Walsh, Orla Hardima. Intermediate repeat expansion length in C9orf72 may be pathological in amyotrophic lateral sclerosis. Amyotrophic lateral sclerosis & frontotemporal degeneration. vol 15. issue 1-2. 2014-10-22. PMID:24053774. |
an expanded hexanucleotide repeat in c9orf72 causes amyotrophic lateral sclerosis and frontotemporal dementia. |
2014-10-22 |
2023-08-12 |
Not clear |
| Alan Stepto, Jean-Marc Gallo, Christopher E Shaw, Frank Hirt. Modelling C9ORF72 hexanucleotide repeat expansion in amyotrophic lateral sclerosis and frontotemporal dementia. Acta neuropathologica. vol 127. issue 3. 2014-10-20. PMID:24366528. |
modelling c9orf72 hexanucleotide repeat expansion in amyotrophic lateral sclerosis and frontotemporal dementia. |
2014-10-20 |
2023-08-12 |
mouse |
| Marka van Blitterswijk, Bianca Mullen, Alexandra M Nicholson, Kevin F Bieniek, Michael G Heckman, Matthew C Baker, Mariely DeJesus-Hernandez, Nicole A Finch, 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, 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. TMEM106B protects C9ORF72 expansion carriers against frontotemporal dementia. Acta neuropathologica. vol 127. issue 3. 2014-10-20. PMID:24385136. |
tmem106b protects c9orf72 expansion carriers against frontotemporal dementia. |
2014-10-20 |
2023-08-12 |
Not clear |
| Malcolm Proudfoot, Nick J Gutowski, Dieter Edbauer, David A Hilton, Mark Stephens, Julia Rankin, Ian R A Mackenzi. Early dipeptide repeat pathology in a frontotemporal dementia kindred with C9ORF72 mutation and intellectual disability. Acta neuropathologica. vol 127. issue 3. 2014-10-20. PMID:24445903. |
early dipeptide repeat pathology in a frontotemporal dementia kindred with c9orf72 mutation and intellectual disability. |
2014-10-20 |
2023-08-12 |
Not clear |