| Publication |
Sentence |
Publish Date |
Extraction Date |
Species |
| Melissa E Murray, Kevin F Bieniek, M Banks Greenberg, Mariely DeJesus-Hernandez, Nicola J Rutherford, Marka van Blitterswijk, Ellis Niemantsverdriet, Peter E Ash, Tania F Gendron, Naomi Kouri, Matt Baker, Ira J Goodman, Leonard Petrucelli, Rosa Rademakers, Dennis W Dickso. Progressive amnestic dementia, hippocampal sclerosis, and mutation in C9ORF72. Acta neuropathologica. vol 126. issue 4. 2014-10-13. PMID:23922030. |
the findings in this patient suggest that the clinical and pathologic spectrum of c9orf72 repeat expansion is wider than frontotemporal dementia and motor neuron disease, including cases of progressive amnestic dementia with restricted tdp-43 pathology associated with hpscl. |
2014-10-13 |
2023-08-12 |
Not clear |
| Annemarie Hübers, Nicolai Marroquin, Birgit Schmoll, Stefan Vielhaber, Marlies Just, Benjamin Mayer, Josef Högel, Johannes Dorst, Thomas Mertens, Walter Just, Anna Aulitzky, Verena Wais, Albert C Ludolph, Christian Kubisch, Jochen H Weishaupt, Alexander E Vol. Polymerase chain reaction and Southern blot-based analysis of the C9orf72 hexanucleotide repeat in different motor neuron diseases. Neurobiology of aging. vol 35. issue 5. 2014-10-06. PMID:24378086. |
the ggggcc-hexanucleotide repeat expansion in c9orf72 is the most common genetic cause of familial amyotrophic lateral sclerosis and frontotemporal dementia. |
2014-10-06 |
2023-08-12 |
Not clear |
| Eun-Joo Kim, Jay C Kwon, Kee Hyung Park, Kyung-Won Park, Jae-Hong Lee, Seong Hye Choi, Jee H Jeong, Byeong C Kim, Soo Jin Yoon, Young Chul Yoon, Sangyun Kim, Key-Chung Park, Byung-Ok Choi, Duk L Na, Chang-Seok Ki, Seung Hyun Ki. Clinical and genetic analysis of MAPT, GRN, and C9orf72 genes in Korean patients with frontotemporal dementia. Neurobiology of aging. vol 35. issue 5. 2014-10-06. PMID:24387985. |
clinical and genetic analysis of mapt, grn, and c9orf72 genes in korean patients with frontotemporal dementia. |
2014-10-06 |
2023-08-12 |
Not clear |
| Eun-Joo Kim, Jay C Kwon, Kee Hyung Park, Kyung-Won Park, Jae-Hong Lee, Seong Hye Choi, Jee H Jeong, Byeong C Kim, Soo Jin Yoon, Young Chul Yoon, Sangyun Kim, Key-Chung Park, Byung-Ok Choi, Duk L Na, Chang-Seok Ki, Seung Hyun Ki. Clinical and genetic analysis of MAPT, GRN, and C9orf72 genes in Korean patients with frontotemporal dementia. Neurobiology of aging. vol 35. issue 5. 2014-10-06. PMID:24387985. |
the hexanucleotide repeat expansion (ggggcc) in chromosome 9 open-reading frame 72 (c9orf72) and mutations in the microtubule-associated protein tau (mapt) and progranulin (grn) genes are known to be associated with the main causes of familial or sporadic amyotrophic lateral sclerosis and frontotemporal dementia (ftd) in western populations. |
2014-10-06 |
2023-08-12 |
Not clear |
| Laura E Downey, Phillip D Fletcher, Hannah L Golden, Colin J Mahoney, Jennifer L Agustus, Jonathan M Schott, Jonathan D Rohrer, Jonathan Beck, Simon Mead, Martin N Rossor, Sebastian J Crutch, Jason D Warre. Altered body schema processing in frontotemporal dementia with C9ORF72 mutations. Journal of neurology, neurosurgery, and psychiatry. vol 85. issue 9. 2014-10-02. PMID:24521566. |
altered body schema processing in frontotemporal dementia with c9orf72 mutations. |
2014-10-02 |
2023-08-12 |
Not clear |
| Laura E Downey, Phillip D Fletcher, Hannah L Golden, Colin J Mahoney, Jennifer L Agustus, Jonathan M Schott, Jonathan D Rohrer, Jonathan Beck, Simon Mead, Martin N Rossor, Sebastian J Crutch, Jason D Warre. Altered body schema processing in frontotemporal dementia with C9ORF72 mutations. Journal of neurology, neurosurgery, and psychiatry. vol 85. issue 9. 2014-10-02. PMID:24521566. |
mutations in c9orf72 are an important cause of frontotemporal dementia (ftd) and motor neuron disease. |
2014-10-02 |
2023-08-12 |
Not clear |
| Nicola Ticozzi, Cinzia Tiloca, Daniela Calini, Stella Gagliardi, Alessandra Altieri, Claudia Colombrita, Cristina Cereda, Antonia Ratti, Gianni Pezzoli, Barbara Borroni, Stefano Goldwurm, Alessandro Padovani, Vincenzo Silan. C9orf72 repeat expansions are restricted to the ALS-FTD spectrum. Neurobiology of aging. vol 35. issue 4. 2014-09-29. PMID:24169076. |
expansion of a ggggcc repeat (re) in the c9orf72 gene has been recently reported as the main genetic cause of amyotrophic lateral sclerosis (als) and frontotemporal dementia (ftd). |
2014-09-29 |
2023-08-12 |
Not clear |
| Bin Jiao, Beisha Tang, Xiaoyan Liu, Xinxiang Yan, Lin Zhou, Yi Yang, Junling Wang, Kun Xia, Lu She. Identification of C9orf72 repeat expansions in patients with amyotrophic lateral sclerosis and frontotemporal dementia in mainland China. Neurobiology of aging. vol 35. issue 4. 2014-09-29. PMID:24269022. |
identification of c9orf72 repeat expansions in patients with amyotrophic lateral sclerosis and frontotemporal dementia in mainland china. |
2014-09-29 |
2023-08-12 |
human |
| Bin Jiao, Beisha Tang, Xiaoyan Liu, Xinxiang Yan, Lin Zhou, Yi Yang, Junling Wang, Kun Xia, Lu She. Identification of C9orf72 repeat expansions in patients with amyotrophic lateral sclerosis and frontotemporal dementia in mainland China. Neurobiology of aging. vol 35. issue 4. 2014-09-29. PMID:24269022. |
the ggggcc repeat expansion in the c9orf72 gene was recently identified as a major cause of amyotrophic lateral sclerosis (als) and frontotemporal dementia (ftd) in white populations. |
2014-09-29 |
2023-08-12 |
human |
| Karen Nuytemans, Güney Bademci, Martin M Kohli, Gary W Beecham, Liyong Wang, Juan I Young, Fatta Nahab, Eden R Martin, John R Gilbert, Michael Benatar, Jonathan L Haines, William K Scott, Stephan Züchner, Margaret A Pericak-Vance, Jeffery M Vanc. C9ORF72 intermediate repeat copies are a significant risk factor for Parkinson disease. Annals of human genetics. vol 77. issue 5. 2014-09-25. PMID:23845100. |
we set out to determine whether expansions in the c9orf72 repeat found in amyotrophic lateral sclerosis (als) and frontotemporal dementia (ftd) families are associated with parkinson disease (pd). |
2014-09-25 |
2023-08-12 |
Not clear |
| Frank P Diekstra, Vivianna M Van Deerlin, John C van Swieten, Ammar Al-Chalabi, Albert C Ludolph, Jochen H Weishaupt, Orla Hardiman, John E Landers, Robert H Brown, Michael A van Es, R Jeroen Pasterkamp, Max Koppers, Peter M Andersen, Karol Estrada, Fernando Rivadeneira, Albert Hofman, André G Uitterlinden, Philip van Damme, Judith Melki, Vincent Meininger, Aleksey Shatunov, Christopher E Shaw, P Nigel Leigh, Pamela J Shaw, Karen E Morrison, Isabella Fogh, Adriano Chiò, Bryan J Traynor, David Czell, Markus Weber, Peter Heutink, Paul I W de Bakker, Vincenzo Silani, Wim Robberecht, Leonard H van den Berg, Jan H Veldin. C9orf72 and UNC13A are shared risk loci for amyotrophic lateral sclerosis and frontotemporal dementia: a genome-wide meta-analysis. Annals of neurology. vol 76. issue 1. 2014-09-22. PMID:24931836. |
c9orf72 and unc13a are shared risk loci for amyotrophic lateral sclerosis and frontotemporal dementia: a genome-wide meta-analysis. |
2014-09-22 |
2023-08-13 |
Not clear |
| Sarah Mizielinska, Sebastian Grönke, Teresa Niccoli, Charlotte E Ridler, Emma L Clayton, Anny Devoy, Thomas Moens, Frances E Norona, Ione O C Woollacott, Julian Pietrzyk, Karen Cleverley, Andrew J Nicoll, Stuart Pickering-Brown, Jacqueline Dols, Melissa Cabecinha, Oliver Hendrich, Pietro Fratta, Elizabeth M C Fisher, Linda Partridge, Adrian M Isaac. C9orf72 repeat expansions cause neurodegeneration in Drosophila through arginine-rich proteins. Science (New York, N.Y.). vol 345. issue 6201. 2014-09-22. PMID:25103406. |
an expanded ggggcc repeat in c9orf72 is the most common genetic cause of frontotemporal dementia and amyotrophic lateral sclerosis. |
2014-09-22 |
2023-08-13 |
drosophila_melanogaster |
| Jun-Ichi Satoh, Yoji Yamamoto, Shouta Kitano, Mika Takitani, Naohiro Asahina, Yoshihiro Kin. Molecular network analysis suggests a logical hypothesis for the pathological role of c9orf72 in amyotrophic lateral sclerosis/frontotemporal dementia. Journal of central nervous system disease. vol 6. 2014-09-11. PMID:25210488. |
expanded ggggcc hexanucleotide repeats, ranging from hundreds to thousands in number, 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) (abbreviated as c9als). |
2014-09-11 |
2023-08-13 |
Not clear |
| Youn-Bok Lee, Han-Jou Chen, João N Peres, Jorge Gomez-Deza, Jan Attig, Maja Stalekar, Claire Troakes, Agnes L Nishimura, Emma L Scotter, Caroline Vance, Yoshitsugu Adachi, Valentina Sardone, Jack W Miller, Bradley N Smith, Jean-Marc Gallo, Jernej Ule, Frank Hirth, Boris Rogelj, Corinne Houart, Christopher E Sha. Hexanucleotide repeats in ALS/FTD form length-dependent RNA foci, sequester RNA binding proteins, and are neurotoxic. Cell reports. vol 5. issue 5. 2014-08-26. PMID:24290757. |
the ggggcc (g4c2) intronic repeat expansion within c9orf72 is the most common genetic cause of amyotrophic lateral sclerosis (als) and frontotemporal dementia (ftd). |
2014-08-26 |
2023-08-12 |
zebrafish |
| Raffaele Ferrari, Mia Kero, Kin Mok, Anders Paetau, Pentti J Tienari, Olli Tynninen, John Hardy, Parastoo Momeni, Auli Verkkoniemi-Ahola, Liisa Myllykanga. Familial frontotemporal dementia associated with C9orf72 repeat expansion and dysplastic gangliocytoma. Neurobiology of aging. vol 35. issue 2. 2014-08-25. PMID:24080172. |
familial frontotemporal dementia associated with c9orf72 repeat expansion and dysplastic gangliocytoma. |
2014-08-25 |
2023-08-12 |
Not clear |
| T T Nielsen, K Svenstrup, M Duno, J E Nielse. Hereditary spastic paraplegia is not associated with C9ORF72 repeat expansions in a Danish cohort. Spinal cord. vol 52. issue 1. 2014-08-25. PMID:24126854. |
recently, large intronic hexanucleotide repeat expansions (ggggcc) in c9orf72 have been found to cause frontotemporal dementia (ftd), amyotrophic lateral sclerosis and ftd with motor neuron disease. |
2014-08-25 |
2023-08-12 |
Not clear |
| Kevin F Bieniek, Marka van Blitterswijk, Matthew C Baker, Leonard Petrucelli, Rosa Rademakers, Dennis W Dickso. Expanded C9ORF72 hexanucleotide repeat in depressive pseudodementia. JAMA neurology. vol 71. issue 6. 2014-08-15. PMID:24756204. |
expanded hexanucleotide repeats in c9orf72 are a common genetic cause of frontotemporal dementia and amyotrophic lateral sclerosis. |
2014-08-15 |
2023-08-13 |
Not clear |
| Bruce L Mille. The C9ORF72 mutation brings more answers and more questions. Alzheimer's research & therapy. vol 5. issue 1. 2014-08-12. PMID:23414702. |
first reported in november 2011, the c9orf72 mutation is the most common mutation associated with both frontotemporal dementia and amyotrophic lateral sclerosis in the western hemisphere and europe. |
2014-08-12 |
2023-08-12 |
human |
| Mika H Martikainen, Maria Gardberg, Lilja Jansson, Matias Röyttä, Juha O Rinne, Valtteri Kaasine. Brain ¹⁸F-FDG and ¹¹C-PiB PET findings in two siblings with FTD/ALS associated with the C9ORF72 repeat expansion. Neurocase. vol 20. issue 2. 2014-08-01. PMID:23216213. |
the c9orf72 hexanucleotide expansion is a major pathological expansion pattern found in patients with frontotemporal dementia (ftd) and amyotrophic lateral sclerosis (c9ftd/als). |
2014-08-01 |
2023-08-12 |
Not clear |
| Ian R Mackenzie, Thomas Arzberger, Elisabeth Kremmer, Dirk Troost, Stefan Lorenzl, Kohji Mori, Shih-Ming Weng, Christian Haass, Hans A Kretzschmar, Dieter Edbauer, Manuela Neuman. Dipeptide repeat protein pathology in C9ORF72 mutation cases: clinico-pathological correlations. Acta neuropathologica. vol 126. issue 6. 2014-07-10. PMID:24096617. |
hexanucleotide repeat expansion in c9orf72 is the most common genetic cause of frontotemporal dementia and motor neuron disease. |
2014-07-10 |
2023-08-12 |
Not clear |