| Publication |
Sentence |
Publish Date |
Extraction Date |
Species |
| Kotaro Ogaki, Yuanzhe Li, Naoki Atsuta, Hiroyuki Tomiyama, Manabu Funayama, Hazuki Watanabe, Ryoichi Nakamura, Hideo Yoshino, Seiji Yato, Asako Tamura, Yutaka Naito, Akira Taniguchi, Koji Fujita, Yuishin Izumi, Ryuji Kaji, Nobutaka Hattori, Gen Sobu. Analysis of C9orf72 repeat expansion in 563 Japanese patients with amyotrophic lateral sclerosis. Neurobiology of aging. vol 33. issue 10. 2013-01-21. PMID:22727276. |
the c9orf72 mutation should be analyzed in sporadic als patients after determining their family histories not only of frontotemporal dementia but also of primary progressive aphasia. |
2013-01-21 |
2023-08-12 |
Not clear |
| Antonia Ratti, Lucia Corrado, Barbara Castellotti, Roberto Del Bo, Isabella Fogh, Cristina Cereda, Cinzia Tiloca, Carla D'Ascenzo, Alessandra Bagarotti, Viviana Pensato, Michela Ranieri, Stella Gagliardi, Daniela Calini, Letizia Mazzini, Franco Taroni, Stefania Corti, Mauro Ceroni, Gaia D Oggioni, Kuang Lin, John F Powell, Gianni Sorarù, Nicola Ticozzi, Giacomo P Comi, Sandra D'Alfonso, Cinzia Gellera, Vincenzo Silan. C9ORF72 repeat expansion in a large Italian ALS cohort: evidence of a founder effect. Neurobiology of aging. vol 33. issue 10. 2013-01-21. PMID:22766072. |
a hexanucleotide repeat expansion (re) in c9orf72 gene was recently reported as the main cause of amyotrophic lateral sclerosis (als) and cases with frontotemporal dementia. |
2013-01-21 |
2023-08-12 |
Not clear |
| Rodolfo Savica, Anahita Adeli, Prashanthi Vemuri, David S Knopman, Mariely Dejesus-Hernandez, Rosa Rademakers, Julie A Fields, Jennifer Whitwell, Clifford R Jack, Val Lowe, Ronald C Petersen, Bradley F Boev. Characterization of a family with c9FTD/ALS associated with the GGGGCC repeat expansion in C9ORF72. Archives of neurology. vol 69. issue 9. 2012-12-12. PMID:22637471. |
the hexanucleotide repeat in the chromosome 9 open reading frame 72 (c9orf72) gene was recently discovered as the underlying genetic cause of many families with frontotemporal dementia (ftd) and/or amyotrophic lateral sclerosis (als) linked to chromosome 9 (c9ftd/als). |
2012-12-12 |
2023-08-12 |
Not clear |
| Leonel T Takada, Maria Lucia V Pimentel, Mariely Dejesus-Hernandez, Jamie C Fong, Jennifer S Yokoyama, Anna Karydas, Marie-Pierre Thibodeau, Nicola J Rutherford, Matthew C Baker, Catherine Lomen-Hoerth, Rosa Rademakers, Bruce L Mille. Frontotemporal dementia in a Brazilian kindred with the c9orf72 mutation. Archives of neurology. vol 69. issue 9. 2012-12-12. PMID:22964910. |
frontotemporal dementia in a brazilian kindred with the c9orf72 mutation. |
2012-12-12 |
2023-08-12 |
Not clear |
| Hussein Daoud, Hamid Suhail, Mike Sabbagh, Veronique Belzil, Anna Szuto, Alexandre Dionne-Laporte, Jawad Khoris, William Camu, Francois Salachas, Vincent Meininger, Jean Mathieu, Michael Strong, Patrick A Dion, Guy A Roulea. C9orf72 hexanucleotide repeat expansions as the causative mutation for chromosome 9p21-linked amyotrophic lateral sclerosis and frontotemporal dementia. Archives of neurology. vol 69. issue 9. 2012-12-12. PMID:22964911. |
c9orf72 hexanucleotide repeat expansions as the causative mutation for chromosome 9p21-linked amyotrophic lateral sclerosis and frontotemporal dementia. |
2012-12-12 |
2023-08-12 |
Not clear |
| Hussein Daoud, Hamid Suhail, Mike Sabbagh, Veronique Belzil, Anna Szuto, Alexandre Dionne-Laporte, Jawad Khoris, William Camu, Francois Salachas, Vincent Meininger, Jean Mathieu, Michael Strong, Patrick A Dion, Guy A Roulea. C9orf72 hexanucleotide repeat expansions as the causative mutation for chromosome 9p21-linked amyotrophic lateral sclerosis and frontotemporal dementia. Archives of neurology. vol 69. issue 9. 2012-12-12. PMID:22964911. |
to further assess the presence of a large hexanucleotide repeat expansion in the first intron of the c9orf72 gene identified as the genetic cause of chromosome 9p21-linked amyotrophic lateral sclerosis and frontotemporal dementia (c9als/ftd) in 4 unrelated families with a conclusive linkage to c9als/ftd. |
2012-12-12 |
2023-08-12 |
Not clear |
| Ching-Paio Tsai, Bing-Wen Soong, Pang-Hsien Tu, Kon-Ping Lin, Jong-Ling Fuh, Pei-Chien Tsai, Yi-Chun Lu, I-Hui Lee, Yi-Chung Le. A hexanucleotide repeat expansion in C9ORF72 causes familial and sporadic ALS in Taiwan. Neurobiology of aging. vol 33. issue 9. 2012-11-29. PMID:22673113. |
a ggggcc hexanucleotide repeat expansion in the c9orf72 gene was recently identified as an important cause of familial amyotrophic lateral sclerosis (als) and frontotemporal dementia in caucasian populations. |
2012-11-29 |
2023-08-12 |
Not clear |
| Jun-Ichi Satoh, Hiroko Tabunoki, Tsuyoshi Ishida, Yuko Saito, Kunimasa Arim. Dystrophic neurites express C9orf72 in Alzheimer's disease brains. Alzheimer's research & therapy. vol 4. issue 4. 2012-11-29. PMID:22898310. |
an expanded hexanucleotide ggggcc repeat located in the first intron of the c9orf72 gene represents the most common genetic cause of familial frontotemporal dementia (ftd) and amyotrophic lateral sclerosis (als). |
2012-11-29 |
2023-08-12 |
Not clear |
| b' Mario Sabatelli, Francesca Luisa Conforti, Marcella Zollino, Gabriele Mora, Maria Rosaria Monsurr\\xc3\\xb2, Paolo Volanti, Kalliopi Marinou, Fabrizio Salvi, Massimo Corbo, Fabio Giannini, Stefania Battistini, Silvana Penco, Christian Lunetta, Aldo Quattrone, Antonio Gambardella, Giancarlo Logroscino, Isabella Simone, Ilaria Bartolomei, Fabrizio Pisano, Gioacchino Tedeschi, Amelia Conte, Rossella Spataro, Vincenzo La Bella, Claudia Caponnetto, Gianluigi Mancardi, Paola Mandich, Patrizia Sola, Jessica Mandrioli, Alan E Renton, Elisa Majounie, Yevgeniya Abramzon, Francesco Marrosu, Maria Giovanna Marrosu, Maria Rita Murru, Maria Alessandra Sotgiu, Maura Pugliatti, Carmelo Rodolico, Cristina Moglia, Andrea Calvo, Irene Ossola, Maura Brunetti, Bryan J Traynor, Giuseppe Borghero, Gabriella Restagno, Adriano Chi\\xc3\\xb. C9ORF72 hexanucleotide repeat expansions in the Italian sporadic ALS population. Neurobiology of aging. vol 33. issue 8. 2012-10-24. PMID:22418734.' |
it has been recently reported that a large proportion of patients with familial amyotrophic lateral sclerosis (als) and frontotemporal dementia (ftd) are associated with a hexanucleotide (ggggcc) repeat expansion in the first intron of c9orf72. |
2012-10-24 |
2023-08-12 |
Not clear |
| Kin Y Mok, Georgios Koutsis, Lucia V Schottlaender, James Polke, Marios Panas, Henry Houlde. High frequency of the expanded C9ORF72 hexanucleotide repeat in familial and sporadic Greek ALS patients. Neurobiology of aging. vol 33. issue 8. 2012-10-24. PMID:22445326. |
an intronic expansion of a hexanucleotide ggggcc repeat in the c9orf72 gene has recently been shown to be an important cause of amyotrophic lateral sclerosis (als) and frontotemporal dementia (ftd) in familial and sporadic cases. |
2012-10-24 |
2023-08-12 |
Not clear |
| Elisabet Englund, Lars Gustafson, Ulla Passant, Elisa Majounie, Alan E Renton, Bryan J Traynor, Jonathan D Rohrer, Kin Mok, John Hard. Familial Lund frontotemporal dementia caused by C9ORF72 hexanucleotide expansion. Neurobiology of aging. vol 33. issue 8. 2012-10-24. PMID:22483864. |
familial lund frontotemporal dementia caused by c9orf72 hexanucleotide expansion. |
2012-10-24 |
2023-08-12 |
Not clear |
| Elisabet Englund, Lars Gustafson, Ulla Passant, Elisa Majounie, Alan E Renton, Bryan J Traynor, Jonathan D Rohrer, Kin Mok, John Hard. Familial Lund frontotemporal dementia caused by C9ORF72 hexanucleotide expansion. Neurobiology of aging. vol 33. issue 8. 2012-10-24. PMID:22483864. |
here we show that the large lund pedigree with behavioral variant of frontotemporal dementia previously described with this disorder has an expansion in the recently described c9orf72 locus on chromosome 9. |
2012-10-24 |
2023-08-12 |
Not clear |
| Oriol Dols-Icardo, Marc Suárez-Calvet, Isabel Hernández, Guillermo Amer, Sofía Antón-Aguirre, Daniel Alcolea, Juan Fortea, Mercè Boada, Lluís Tárraga, Rafael Blesa, Alberto Lleó, Jordi Clarimó. Expansion mutation in C9ORF72 does not influence plasma progranulin levels in frontotemporal dementia. Neurobiology of aging. vol 33. issue 8. 2012-10-24. PMID:22502998. |
expansion mutation in c9orf72 does not influence plasma progranulin levels in frontotemporal dementia. |
2012-10-24 |
2023-08-12 |
human |
| Oriol Dols-Icardo, Marc Suárez-Calvet, Isabel Hernández, Guillermo Amer, Sofía Antón-Aguirre, Daniel Alcolea, Juan Fortea, Mercè Boada, Lluís Tárraga, Rafael Blesa, Alberto Lleó, Jordi Clarimó. Expansion mutation in C9ORF72 does not influence plasma progranulin levels in frontotemporal dementia. Neurobiology of aging. vol 33. issue 8. 2012-10-24. PMID:22502998. |
sixty-five patients diagnosed with frontotemporal dementia and 10 family members with familial aggregation of disease were screened for the presence of the hexanucleotide repeat expansion in c9orf72 gene, using a repeat-primed polymerase chain reaction method. |
2012-10-24 |
2023-08-12 |
human |
| Ewout J N Groen, Wouter van Rheenen, Max Koppers, Perry T C van Doormaal, Lotte Vlam, Frank P Diekstra, Dennis Dooijes, R Jeroen Pasterkamp, Leonard H van den Berg, Jan H Veldin. CGG-repeat expansion in FMR1 is not associated with amyotrophic lateral sclerosis. Neurobiology of aging. vol 33. issue 8. 2012-10-24. PMID:22507827. |
it has been demonstrated that an intronic hexanucleotide repeat expansion in c9orf72 is a major cause of both familial (approximately 40%) and sporadic (approximately 5%) als, as well as frontotemporal dementia (ftd). |
2012-10-24 |
2023-08-12 |
Not clear |
| Stéphanie Millecamps, Séverine Boillée, Isabelle Le Ber, Danielle Seilhean, Elisa Teyssou, Marine Giraudeau, Carine Moigneu, Nadia Vandenberghe, Véronique Danel-Brunaud, Philippe Corcia, Pierre-François Pradat, Nadine Le Forestier, Lucette Lacomblez, Gaelle Bruneteau, William Camu, Alexis Brice, Cécile Cazeneuve, Eric Leguern, Vincent Meininger, François Salacha. Phenotype difference between ALS patients with expanded repeats in C9ORF72 and patients with mutations in other ALS-related genes. Journal of medical genetics. vol 49. issue 4. 2012-08-10. PMID:22499346. |
expanded ggggcc hexanucleotide repeats in the promoter of the c9orf72 gene have recently been identified in frontotemporal dementia (ftd), amyotrophic lateral sclerosis (als) and als-ftd and appear as the most common genetic cause of familial (fals) and sporadic (sals) forms of als. |
2012-08-10 |
2023-08-12 |
Not clear |
| Heather Stewart, Nicola J Rutherford, Hannah Briemberg, Charles Krieger, Neil Cashman, Marife Fabros, Matt Baker, Alice Fok, Mariely DeJesus-Hernandez, Andrew Eisen, Rosa Rademakers, Ian R A Mackenzi. Clinical and pathological features of amyotrophic lateral sclerosis caused by mutation in the C9ORF72 gene on chromosome 9p. Acta neuropathologica. vol 123. issue 3. 2012-07-23. PMID:22228244. |
two studies recently identified a ggggcc hexanucleotide repeat expansion in a non-coding region of the chromosome 9 open-reading frame 72 gene (c9orf72) as the cause of chromosome 9p-linked amyotrophic lateral sclerosis (als) and frontotemporal dementia (ftd). |
2012-07-23 |
2023-08-12 |
human |
| Elisa Majounie, Alan E Renton, Kin Mok, Elise G P Dopper, Adrian Waite, Sara Rollinson, Adriano Chiò, Gabriella Restagno, Nayia Nicolaou, Javier Simon-Sanchez, John C van Swieten, Yevgeniya Abramzon, Janel O Johnson, Michael Sendtner, Roger Pamphlett, Richard W Orrell, Simon Mead, Katie C Sidle, Henry Houlden, Jonathan D Rohrer, Karen E Morrison, Hardev Pall, Kevin Talbot, Olaf Ansorge, Dena G Hernandez, Sampath Arepalli, Mario Sabatelli, Gabriele Mora, Massimo Corbo, Fabio Giannini, Andrea Calvo, Elisabet Englund, Giuseppe Borghero, Gian Luca Floris, Anne M Remes, Hannu Laaksovirta, Leo McCluskey, John Q Trojanowski, Vivianna M Van Deerlin, Gerard D Schellenberg, Michael A Nalls, Vivian E Drory, Chin-Song Lu, Tu-Hsueh Yeh, Hiroyuki Ishiura, Yuji Takahashi, Shoji Tsuji, Isabelle Le Ber, Alexis Brice, Carsten Drepper, Nigel Williams, Janine Kirby, Pamela Shaw, John Hardy, Pentti J Tienari, Peter Heutink, Huw R Morris, Stuart Pickering-Brown, Bryan J Trayno. Frequency of the C9orf72 hexanucleotide repeat expansion in patients with amyotrophic lateral sclerosis and frontotemporal dementia: a cross-sectional study. The Lancet. Neurology. vol 11. issue 4. 2012-05-11. PMID:22406228. |
frequency of the c9orf72 hexanucleotide repeat expansion in patients with amyotrophic lateral sclerosis and frontotemporal dementia: a cross-sectional study. |
2012-05-11 |
2023-08-12 |
Not clear |
| Elisa Majounie, Alan E Renton, Kin Mok, Elise G P Dopper, Adrian Waite, Sara Rollinson, Adriano Chiò, Gabriella Restagno, Nayia Nicolaou, Javier Simon-Sanchez, John C van Swieten, Yevgeniya Abramzon, Janel O Johnson, Michael Sendtner, Roger Pamphlett, Richard W Orrell, Simon Mead, Katie C Sidle, Henry Houlden, Jonathan D Rohrer, Karen E Morrison, Hardev Pall, Kevin Talbot, Olaf Ansorge, Dena G Hernandez, Sampath Arepalli, Mario Sabatelli, Gabriele Mora, Massimo Corbo, Fabio Giannini, Andrea Calvo, Elisabet Englund, Giuseppe Borghero, Gian Luca Floris, Anne M Remes, Hannu Laaksovirta, Leo McCluskey, John Q Trojanowski, Vivianna M Van Deerlin, Gerard D Schellenberg, Michael A Nalls, Vivian E Drory, Chin-Song Lu, Tu-Hsueh Yeh, Hiroyuki Ishiura, Yuji Takahashi, Shoji Tsuji, Isabelle Le Ber, Alexis Brice, Carsten Drepper, Nigel Williams, Janine Kirby, Pamela Shaw, John Hardy, Pentti J Tienari, Peter Heutink, Huw R Morris, Stuart Pickering-Brown, Bryan J Trayno. Frequency of the C9orf72 hexanucleotide repeat expansion in patients with amyotrophic lateral sclerosis and frontotemporal dementia: a cross-sectional study. The Lancet. Neurology. vol 11. issue 4. 2012-05-11. PMID:22406228. |
we aimed to accurately estimate the frequency of a hexanucleotide repeat expansion in c9orf72 that has been associated with a large proportion of cases of amyotrophic lateral sclerosis (als) and frontotemporal dementia (ftd). |
2012-05-11 |
2023-08-12 |
Not clear |
| Baber K Khan, Jennifer S Yokoyama, Leonel T Takada, Sharon J Sha, Nicola J Rutherford, Jamie C Fong, Anna M Karydas, Teresa Wu, Robin S Ketelle, Matthew C Baker, Mariely-Dejesus Hernandez, Giovanni Coppola, Daniel H Geschwind, Rosa Rademakers, Suzee E Lee, Howard J Rosen, Gil D Rabinovici, William W Seeley, Katherine P Rankin, Adam L Boxer, Bruce L Mille. Atypical, slowly progressive behavioural variant frontotemporal dementia associated with C9ORF72 hexanucleotide expansion. Journal of neurology, neurosurgery, and psychiatry. vol 83. issue 4. 2012-04-27. PMID:22399793. |
atypical, slowly progressive behavioural variant frontotemporal dementia associated with c9orf72 hexanucleotide expansion. |
2012-04-27 |
2023-08-12 |
Not clear |