| Publication |
Sentence |
Publish Date |
Extraction Date |
Species |
| Sandra Almeida, Eduardo Gascon, Hélène Tran, Hsin Jung Chou, Tania F Gendron, Steven Degroot, Andrew R Tapper, Chantal Sellier, Nicolas Charlet-Berguerand, Anna Karydas, William W Seeley, Adam L Boxer, Leonard Petrucelli, Bruce L Miller, Fen-Biao Ga. Modeling key pathological features of frontotemporal dementia with C9ORF72 repeat expansion in iPSC-derived human neurons. Acta neuropathologica. vol 126. issue 3. 2014-04-07. PMID:23836290. |
modeling key pathological features of frontotemporal dementia with c9orf72 repeat expansion in ipsc-derived human neurons. |
2014-04-07 |
2023-08-12 |
human |
| Sandra Almeida, Eduardo Gascon, Hélène Tran, Hsin Jung Chou, Tania F Gendron, Steven Degroot, Andrew R Tapper, Chantal Sellier, Nicolas Charlet-Berguerand, Anna Karydas, William W Seeley, Adam L Boxer, Leonard Petrucelli, Bruce L Miller, Fen-Biao Ga. Modeling key pathological features of frontotemporal dementia with C9ORF72 repeat expansion in iPSC-derived human neurons. Acta neuropathologica. vol 126. issue 3. 2014-04-07. PMID:23836290. |
the recently identified ggggcc repeat expansion in the noncoding region of c9orf72 is the most common pathogenic mutation in patients with frontotemporal dementia (ftd) or amyotrophic lateral sclerosis (als). |
2014-04-07 |
2023-08-12 |
human |
| Aaron R Haeusler, Christopher J Donnelly, Goran Periz, Eric A J Simko, Patrick G Shaw, Min-Sik Kim, Nicholas J Maragakis, Juan C Troncoso, Akhilesh Pandey, Rita Sattler, Jeffrey D Rothstein, Jiou Wan. C9orf72 nucleotide repeat structures initiate molecular cascades of disease. Nature. vol 507. issue 7491. 2014-04-01. PMID:24598541. |
a hexanucleotide repeat expansion (hre), (ggggcc)n, in c9orf72 is the most common genetic cause of the neurodegenerative diseases amyotrophic lateral sclerosis (als) and frontotemporal dementia (ftd). |
2014-04-01 |
2023-08-12 |
Not clear |
| Tania F Gendron, Danielle M Cosio, Leonard Petrucell. c9RAN translation: a potential therapeutic target for the treatment of amyotrophic lateral sclerosis and frontotemporal dementia. Expert opinion on therapeutic targets. vol 17. issue 9. 2014-03-25. PMID:23844663. |
a hexanucleotide (ggggcc) repeat expansion within a non-coding region of the c9orf72 gene is the most common mutation associated with both frontotemporal dementia (ftd) and amyotrophic lateral sclerosis (als). |
2014-03-25 |
2023-08-12 |
Not clear |
| Clement T Loy, Peter R Schofield, Anne M Turner, John B J Kwo. Genetics of dementia. Lancet (London, England). vol 383. issue 9919. 2014-03-11. PMID:23927914. |
in this review, we focus on the evidence for, and the approach to, genetic testing in alzheimer's disease (app, psen1, and psen2 genes), frontotemporal dementia (mapt, grn, c9orf72, and other genes), and other familial dementias. |
2014-03-11 |
2023-08-12 |
Not clear |
| Tao Zu, Yuanjing Liu, Monica Bañez-Coronel, Tammy Reid, Olga Pletnikova, Jada Lewis, Timothy M Miller, Matthew B Harms, Annet E Falchook, S H Subramony, Lyle W Ostrow, Jeffrey D Rothstein, Juan C Troncoso, Laura P W Ranu. RAN proteins and RNA foci from antisense transcripts in C9ORF72 ALS and frontotemporal dementia. Proceedings of the National Academy of Sciences of the United States of America. vol 110. issue 51. 2014-02-24. PMID:24248382. |
ran proteins and rna foci from antisense transcripts in c9orf72 als and frontotemporal dementia. |
2014-02-24 |
2023-08-12 |
Not clear |
| Tao Zu, Yuanjing Liu, Monica Bañez-Coronel, Tammy Reid, Olga Pletnikova, Jada Lewis, Timothy M Miller, Matthew B Harms, Annet E Falchook, S H Subramony, Lyle W Ostrow, Jeffrey D Rothstein, Juan C Troncoso, Laura P W Ranu. RAN proteins and RNA foci from antisense transcripts in C9ORF72 ALS and frontotemporal dementia. Proceedings of the National Academy of Sciences of the United States of America. vol 110. issue 51. 2014-02-24. PMID:24248382. |
the finding that a ggggcc (g4c2) hexanucleotide repeat expansion in the chromosome 9 orf 72 (c9orf72) gene is a common cause of amyotrophic lateral sclerosis (als) and frontotemporal dementia (ftd) links als/ftd to a large group of unstable microsatellite diseases. |
2014-02-24 |
2023-08-12 |
Not clear |
| Andrew Kertesz, Lee Cyn Ang, Sarah Jesso, Julia MacKinley, Matt Baker, Patricia Brown, Christen Shoesmith, Rosa Rademakers, Elizabeth C Finge. Psychosis and hallucinations in frontotemporal dementia with the C9ORF72 mutation: a detailed clinical cohort. Cognitive and behavioral neurology : official journal of the Society for Behavioral and Cognitive Neurology. vol 26. issue 3. 2014-02-06. PMID:24077574. |
psychosis and hallucinations in frontotemporal dementia with the c9orf72 mutation: a detailed clinical cohort. |
2014-02-06 |
2023-08-12 |
Not clear |
| Andrew Kertesz, Lee Cyn Ang, Sarah Jesso, Julia MacKinley, Matt Baker, Patricia Brown, Christen Shoesmith, Rosa Rademakers, Elizabeth C Finge. Psychosis and hallucinations in frontotemporal dementia with the C9ORF72 mutation: a detailed clinical cohort. Cognitive and behavioral neurology : official journal of the Society for Behavioral and Cognitive Neurology. vol 26. issue 3. 2014-02-06. PMID:24077574. |
to specify the presenting symptoms and clinical course of patients with frontotemporal dementia (ftd) and chromosome 9 open reading frame 72 (c9orf72) repeat expansion. |
2014-02-06 |
2023-08-12 |
Not clear |
| Naoki Suzuki, Asif M Maroof, Florian T Merkle, Kathryn Koszka, Atsushi Intoh, Ian Armstrong, Rob Moccia, Brandi N Davis-Dusenbery, Kevin Egga. The mouse C9ORF72 ortholog is enriched in neurons known to degenerate in ALS and FTD. Nature neuroscience. vol 16. issue 12. 2014-01-27. PMID:24185425. |
unlike most genes that are mutated in amyotrophic lateral sclerosis (als), which are ubiquitously expressed, the c9orf72 ortholog was most highly transcribed in the neuronal populations that are sensitive to degeneration in als and frontotemporal dementia. |
2014-01-27 |
2023-08-12 |
mouse |
| Christopher J Donnelly, Ping-Wu Zhang, Jacqueline T Pham, Aaron R Haeusler, Aaron R Heusler, Nipun A Mistry, Svetlana Vidensky, Elizabeth L Daley, Erin M Poth, Benjamin Hoover, Daniel M Fines, Nicholas Maragakis, Pentti J Tienari, Leonard Petrucelli, Bryan J Traynor, Jiou Wang, Frank Rigo, C Frank Bennett, Seth Blackshaw, Rita Sattler, Jeffrey D Rothstei. RNA toxicity from the ALS/FTD C9ORF72 expansion is mitigated by antisense intervention. Neuron. vol 80. issue 2. 2014-01-09. PMID:24139042. |
a hexanucleotide ggggcc repeat expansion in the noncoding region of the c9orf72 gene is the most common genetic abnormality in familial and sporadic amyotrophic lateral sclerosis (als) and frontotemporal dementia (ftd). |
2014-01-09 |
2023-08-12 |
human |
| Julie S Snowden, Jennifer Harris, Anna Richardson, Sara Rollinson, Jennifer C Thompson, David Neary, David M A Mann, Stuart Pickering-Brow. Frontotemporal dementia with amyotrophic lateral sclerosis: a clinical comparison of patients with and without repeat expansions in C9orf72. Amyotrophic lateral sclerosis & frontotemporal degeneration. vol 14. issue 3. 2013-12-27. PMID:23421625. |
frontotemporal dementia with amyotrophic lateral sclerosis: a clinical comparison of patients with and without repeat expansions in c9orf72. |
2013-12-27 |
2023-08-12 |
Not clear |
| Julie S Snowden, Jennifer Harris, Anna Richardson, Sara Rollinson, Jennifer C Thompson, David Neary, David M A Mann, Stuart Pickering-Brow. Frontotemporal dementia with amyotrophic lateral sclerosis: a clinical comparison of patients with and without repeat expansions in C9orf72. Amyotrophic lateral sclerosis & frontotemporal degeneration. vol 14. issue 3. 2013-12-27. PMID:23421625. |
repeat expansions in c9orf72 are a major cause of frontotemporal dementia with amyotrophic lateral sclerosis (ftd-als). |
2013-12-27 |
2023-08-12 |
Not clear |
| Johnathan Cooper-Knock, Adrian Higginbottom, Natalie Connor-Robson, Nadhim Bayatti, Joanna J Bury, Janine Kirby, Natalia Ninkina, Vladimir L Buchman, Pamela J Sha. C9ORF72 transcription in a frontotemporal dementia case with two expanded alleles. Neurology. vol 81. issue 19. 2013-12-23. PMID:24107864. |
c9orf72 transcription in a frontotemporal dementia case with two expanded alleles. |
2013-12-23 |
2023-08-12 |
Not clear |
| Johnathan Cooper-Knock, Adrian Higginbottom, Natalie Connor-Robson, Nadhim Bayatti, Joanna J Bury, Janine Kirby, Natalia Ninkina, Vladimir L Buchman, Pamela J Sha. C9ORF72 transcription in a frontotemporal dementia case with two expanded alleles. Neurology. vol 81. issue 19. 2013-12-23. PMID:24107864. |
discovery of intronic hexanucleotide repeat expansions of the c9orf72 gene in a significant proportion of patients with amyotrophic lateral sclerosis (als) and frontotemporal dementia (ftd)(1,2) was an important step for research into these disorders. |
2013-12-23 |
2023-08-12 |
Not clear |
| Zhang-Yu Zou, Xiao-Guang Li, Ming-Sheng Liu, Li-Ying Cu. Screening for C9orf72 repeat expansions in Chinese amyotrophic lateral sclerosis patients. Neurobiology of aging. vol 34. issue 6. 2013-12-11. PMID:23261768. |
an intronic ggggcc hexanucleotide repeat expansion in the c9orf72 gene was recently identified as a major cause of amyotrophic lateral sclerosis (als) and frontotemporal dementia in white populations. |
2013-12-11 |
2023-08-12 |
Not clear |
| Hussein Daoud, Anne Noreau, Daniel Rochefort, Gabriel Paquin-Lanthier, Maude Turcotte Gauthier, Pierre Provencher, Emmanuelle Pourcher, Nicolas Dupré, Sylvain Chouinard, Nicolas Jodoin, Valérie Soland, Edward A Fon, Patrick A Dion, Guy A Roulea. Investigation of C9orf72 repeat expansions in Parkinson's disease. Neurobiology of aging. vol 34. issue 6. 2013-12-11. PMID:23273600. |
large repeat expansions in the c9orf72 gene were recently reported to be a major cause of familial amyotrophic lateral sclerosis and frontotemporal dementia. |
2013-12-11 |
2023-08-12 |
Not clear |
| Maria Landqvist Waldö, Lars Gustafson, Karin Nilsson, Bryan J Traynor, Alan E Renton, Elisabet Englund, Ulla Passan. Frontotemporal dementia with a C9ORF72 expansion in a Swedish family: clinical and neuropathological characteristics. American journal of neurodegenerative disease. vol 2. issue 4. 2013-12-09. PMID:24319645. |
frontotemporal dementia with a c9orf72 expansion in a swedish family: clinical and neuropathological characteristics. |
2013-12-09 |
2023-08-12 |
Not clear |
| Marka van Blitterswijk, Mariely DeJesus-Hernandez, Ellis Niemantsverdriet, Melissa E Murray, Michael G Heckman, Nancy N Diehl, Patricia H Brown, Matthew C Baker, NiCole A Finch, Peter O Bauer, Geidy Serrano, Thomas G Beach, Keith A Josephs, David S Knopman, Ronald C Petersen, Bradley F Boeve, Neill R Graff-Radford, Kevin B Boylan, Leonard Petrucelli, Dennis W Dickson, Rosa Rademaker. Association between repeat sizes and clinical and pathological characteristics in carriers of C9ORF72 repeat expansions (Xpansize-72): a cross-sectional cohort study. The Lancet. Neurology. vol 12. issue 10. 2013-11-18. PMID:24011653. |
hexanucleotide repeat expansions in chromosome 9 open reading frame 72 (c9orf72) are the most common known genetic cause of frontotemporal dementia (ftd) and motor neuron disease (mnd). |
2013-11-18 |
2023-08-12 |
Not clear |
| Johnathan Cooper-Knock, Antonina Frolov, J Robin Highley, Gavin Charlesworth, Janine Kirby, Antonio Milano, Judith Hartley, Paul G Ince, Christopher J McDermott, Tammaryn Lashley, Tamas Revesz, Pamela J Shaw, Nicholas W Wood, Oliver Bandman. C9ORF72 expansions, parkinsonism, and Parkinson disease: a clinicopathologic study. Neurology. vol 81. issue 9. 2013-11-06. PMID:23884045. |
to determine the histopathologic bases for the observed incidence of parkinsonism in families with c9orf72 expansions, which typically cause amyotrophic lateral sclerosis (als) and/or frontotemporal dementia. |
2013-11-06 |
2023-08-12 |
Not clear |