| Publication |
Sentence |
Publish Date |
Extraction Date |
Species |
| b' Alberto Garc\\xc3\\xada-Redondo, Oriol Dols-Icardo, Ricard Rojas-Garc\\xc3\\xada, Jes\\xc3\\xbas Esteban-P\\xc3\\xa9rez, Pilar Cordero-V\\xc3\\xa1zquez, Jos\\xc3\\xa9 Luis Mu\\xc3\\xb1oz-Blanco, Irene Catalina, Miguel Gonz\\xc3\\xa1lez-Mu\\xc3\\xb1oz, Luis Varona, Esther Sarasola, Monica Povedano, Teresa Sevilla, Antonio Guerrero, Julio Pardo, Adolfo L\\xc3\\xb3pez de Munain, Celedonio M\\xc3\\xa1rquez-Infante, Francisco Javier Rodr\\xc3\\xadguez de Rivera, Pau Pastor, Ivonne Jeric\\xc3\\xb3, Amaya \\xc3\\x81lvarez de Arcaya, Jes\\xc3\\xbas S Mora, Jordi Clarim\\xc3\\xb3n, Juan Francisco Gonzalo-Mart\\xc3\\xadnez, Alexandra Ju\\xc3\\xa1rez-Rufi\\xc3\\xa1n, Gabriela Atencia, Rosario Jim\\xc3\\xa9nez-Bautista, Yolanda Mor\\xc3\\xa1n, Javier Masc\\xc3\\xadas, Mar\\xc3\\xada Hern\\xc3\\xa1ndez-Barral, Solange Kapetanovic, Mar\\xc3\\xada Garc\\xc3\\xada-Barcina, Carmen Alcal\\xc3\\xa1, Alvaro Vela, Concepci\\xc3\\xb3n Ram\\xc3\\xadrez-Ramos, Luc\\xc3\\xada Gal\\xc3\\xa1n, Jordi P\\xc3\\xa9rez-Tur, Beatriz Quint\\xc3\\xa1ns, M Jes\\xc3\\xbas Sobrido, Roberto Fern\\xc3\\xa1ndez-Torr\\xc3\\xb3n, Juan Jos\\xc3\\xa9 Poza, Ana Gorostidi, Carmen Paradas, Pablo Villoslada, Pilar Larrod\\xc3\\xa9, Jos\\xc3\\xa9 Luis Capablo, Jordi Pascual-Calvet, Miguel Go\\xc3\\xb1i, Yolanda Morgado, Miriam Guitart, Sira Moreno-Laguna, Almudena Rueda, Carlos Mart\\xc3\\xadn-Estefan\\xc3\\xada, Carlos Cemill\\xc3\\xa1n, Rafael Blesa, Alberto Lle\\xc3\\xb. Analysis of the C9orf72 gene in patients with amyotrophic lateral sclerosis in Spain and different populations worldwide. Human mutation. vol 34. issue 1. 2013-07-01. PMID:22936364.' |
a hexanucleotide repeat expansion in chromosome 9 open reading frame 72 (c9orf72) can cause amyotrophic lateral sclerosis (als) and/or frontotemporal dementia (ftd). |
2013-07-01 |
2023-08-12 |
human |
| Pietro Fratta, Sarah Mizielinska, Andrew J Nicoll, Mire Zloh, Elizabeth M C Fisher, Gary Parkinson, Adrian M Isaac. C9orf72 hexanucleotide repeat associated with amyotrophic lateral sclerosis and frontotemporal dementia forms RNA G-quadruplexes. Scientific reports. vol 2. 2013-06-05. PMID:23264878. |
c9orf72 hexanucleotide repeat associated with amyotrophic lateral sclerosis and frontotemporal dementia forms rna g-quadruplexes. |
2013-06-05 |
2023-08-12 |
Not clear |
| Pietro Fratta, Sarah Mizielinska, Andrew J Nicoll, Mire Zloh, Elizabeth M C Fisher, Gary Parkinson, Adrian M Isaac. C9orf72 hexanucleotide repeat associated with amyotrophic lateral sclerosis and frontotemporal dementia forms RNA G-quadruplexes. Scientific reports. vol 2. 2013-06-05. PMID:23264878. |
large expansions of a non-coding ggggcc-repeat in the first intron of the c9orf72 gene are a common cause of both amyotrophic lateral sclerosis (als) and frontotemporal dementia (ftd). |
2013-06-05 |
2023-08-12 |
Not clear |
| Gianluca Floris, Giuseppe Borghero, Antonino Cannas, Francesca Di Stefano, Emanuela Costantino, Maria R Murru, Maura Brunetti, Gabriella Restagno, Bryan J Traynor, Maria G Marrosu, Adriano Chiò, Francesco Marros. Frontotemporal dementia with psychosis, parkinsonism, visuo-spatial dysfunction, upper motor neuron involvement associated to expansion of C9ORF72: a peculiar phenotype? Journal of neurology. vol 259. issue 8. 2013-06-04. PMID:22323211. |
frontotemporal dementia with psychosis, parkinsonism, visuo-spatial dysfunction, upper motor neuron involvement associated to expansion of c9orf72: a peculiar phenotype? |
2013-06-04 |
2023-08-12 |
Not clear |
| Andrea Arighi, Giorgio G Fumagalli, Francesca Jacini, Chiara Fenoglio, Laura Ghezzi, Anna M Pietroboni, Milena De Riz, Maria Serpente, Elisa Ridolfi, Rossana Bonsi, Nereo Bresolin, Elio Scarpini, Daniela Galimbert. Early onset behavioral variant frontotemporal dementia due to the C9ORF72 hexanucleotide repeat expansion: psychiatric clinical presentations. Journal of Alzheimer's disease : JAD. vol 31. issue 2. 2013-06-04. PMID:22571983. |
early onset behavioral variant frontotemporal dementia due to the c9orf72 hexanucleotide repeat expansion: psychiatric clinical presentations. |
2013-06-04 |
2023-08-12 |
Not clear |
| Kaalak Reddy, Bita Zamiri, Sabrina Y R Stanley, Robert B Macgregor, Christopher E Pearso. The disease-associated r(GGGGCC)n repeat from the C9orf72 gene forms tract length-dependent uni- and multimolecular RNA G-quadruplex structures. The Journal of biological chemistry. vol 288. issue 14. 2013-05-31. PMID:23423380. |
amyotrophic lateral sclerosis and frontotemporal dementia were recently shown to be caused by expansion of a (ggggcc)n·(ggcccc)n repeat in the c9orf72 gene. |
2013-05-31 |
2023-08-12 |
Not clear |
| Bradley N Smith, Stephen Newhouse, Aleksey Shatunov, Caroline Vance, Simon Topp, Lauren Johnson, Jack Miller, Younbok Lee, Claire Troakes, Kirsten M Scott, Ashley Jones, Ian Gray, Jamie Wright, Tibor Hortobágyi, Safa Al-Sarraj, Boris Rogelj, John Powell, Michelle Lupton, Simon Lovestone, Peter C Sapp, Markus Weber, Peter J Nestor, Helenius J Schelhaas, Anneloor Alm Ten Asbroek, Vincenzo Silani, Cinzia Gellera, Franco Taroni, Nicola Ticozzi, Leonard Van den Berg, Jan Veldink, Phillip Van Damme, Wim Robberecht, Pamela J Shaw, Janine Kirby, Hardev Pall, Karen E Morrison, Alex Morris, Jacqueline de Belleroche, J M B Vianney de Jong, Frank Baas, Peter M Andersen, John Landers, Robert H Brown, Michael E Weale, Ammar Al-Chalabi, Christopher E Sha. The C9ORF72 expansion mutation is a common cause of ALS+/-FTD in Europe and has a single founder. European journal of human genetics : EJHG. vol 21. issue 1. 2013-05-20. PMID:22692064. |
a massive hexanucleotide repeat expansion mutation (hrem) in c9orf72 has recently been linked to amyotrophic lateral sclerosis (als) and frontotemporal dementia (ftd). |
2013-05-20 |
2023-08-12 |
Not clear |
| Marka van Blitterswijk, Mariely DeJesus-Hernandez, Rosa Rademaker. How do C9ORF72 repeat expansions cause amyotrophic lateral sclerosis and frontotemporal dementia: can we learn from other noncoding repeat expansion disorders? Current opinion in neurology. vol 25. issue 6. 2013-05-03. PMID:23160421. |
how do c9orf72 repeat expansions cause amyotrophic lateral sclerosis and frontotemporal dementia: can we learn from other noncoding repeat expansion disorders? |
2013-05-03 |
2023-08-12 |
Not clear |
| Marka van Blitterswijk, Mariely DeJesus-Hernandez, Rosa Rademaker. How do C9ORF72 repeat expansions cause amyotrophic lateral sclerosis and frontotemporal dementia: can we learn from other noncoding repeat expansion disorders? Current opinion in neurology. vol 25. issue 6. 2013-05-03. PMID:23160421. |
the aim of this review is to describe disease mechanisms by which chromosome 9 open reading frame 72 (c9orf72) repeat expansions could lead to amyotrophic lateral sclerosis (als) and frontotemporal dementia (ftd) and to discuss these diseases in relation to other noncoding repeat expansion disorders. |
2013-05-03 |
2023-08-12 |
Not clear |
| Takuya Konno, Atsushi Shiga, Akira Tsujino, Akihiro Sugai, Taisuke Kato, Kazuaki Kanai, Akio Yokoseki, Hiroto Eguchi, Satoshi Kuwabara, Masatoyo Nishizawa, Hitoshi Takahashi, Osamu Onoder. Japanese amyotrophic lateral sclerosis patients with GGGGCC hexanucleotide repeat expansion in C9ORF72. Journal of neurology, neurosurgery, and psychiatry. vol 84. issue 4. 2013-04-29. PMID:23012445. |
a ggggcc hexanucleotide repeat expansion in c9orf72 occurs on a chromosome 9p21 locus that is linked with frontotemporal dementia (ftd) and amyotrophic lateral sclerosis (als) in white populations. |
2013-04-29 |
2023-08-12 |
Not clear |
| Tammaryn Lashley, John Hardy, Adrian M Isaac. RANTing about C9orf72. Neuron. vol 77. issue 4. 2013-04-16. PMID:23439112. |
a noncoding repeat expansion in the c9orf72 gene is the most common genetic cause of frontotemporal dementia and amyotrophic lateral sclerosis. |
2013-04-16 |
2023-08-12 |
Not clear |
| Petra E Cohn-Hokke, Mariet W Elting, Yolande A L Pijnenburg, John C van Swiete. Genetics of dementia: update and guidelines for the clinician. American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics. vol 159B. issue 6. 2013-04-09. PMID:22815225. |
familial frontotemporal dementia may be associated with a mutation in the mapt or grn gene, or with a repeat expansion in the c9orf72 gene. |
2013-04-09 |
2023-08-12 |
Not clear |
| Carol Dobson-Stone, Marianne Hallupp, Lauren Bartley, Claire E Shepherd, Glenda M Halliday, Peter R Schofield, John R Hodges, John B J Kwo. C9ORF72 repeat expansion in clinical and neuropathologic frontotemporal dementia cohorts. Neurology. vol 79. issue 10. 2013-03-21. PMID:22875086. |
c9orf72 repeat expansion in clinical and neuropathologic frontotemporal dementia cohorts. |
2013-03-21 |
2023-08-12 |
Not clear |
| Carol Dobson-Stone, Marianne Hallupp, Lauren Bartley, Claire E Shepherd, Glenda M Halliday, Peter R Schofield, John R Hodges, John B J Kwo. C9ORF72 repeat expansion in clinical and neuropathologic frontotemporal dementia cohorts. Neurology. vol 79. issue 10. 2013-03-21. PMID:22875086. |
to determine the frequency of a hexanucleotide repeat expansion in c9orf72, a gene of unknown function implicated in frontotemporal dementia (ftd) and amyotrophic lateral sclerosis (als), in australian ftd patient cohorts and to examine the clinical and neuropathologic phenotypes associated with this expansion. |
2013-03-21 |
2023-08-12 |
Not clear |
| Sharon J Sha, Leonel T Takada, Katherine P Rankin, Jennifer S Yokoyama, Nicola J Rutherford, Jamie C Fong, Baber Khan, Anna Karydas, Matt C Baker, Mariely DeJesus-Hernandez, Mochtar Pribadi, Giovanni Coppola, Daniel H Geschwind, Rosa Rademakers, Suzee E Lee, William Seeley, Bruce L Miller, Adam L Boxe. Frontotemporal dementia due to C9ORF72 mutations: clinical and imaging features. Neurology. vol 79. issue 10. 2013-03-21. PMID:22875087. |
frontotemporal dementia due to c9orf72 mutations: clinical and imaging features. |
2013-03-21 |
2023-08-12 |
Not clear |
| Estrella Gómez-Tortosa, Jesús Gallego, Rosa Guerrero-López, Alberto Marcos, Eulogio Gil-Neciga, María José Sainz, Asunción Díaz, Emilio Franco-Macías, María José Trujillo-Tiebas, Carmen Ayuso, Julián Pérez-Pére. C9ORF72 hexanucleotide expansions of 20-22 repeats are associated with frontotemporal deterioration. Neurology. vol 80. issue 4. 2013-03-19. PMID:23284068. |
expansions of more than 30 hexanucleotide repetitions in the c9orf72 gene are a common cause of frontotemporal dementia (ftd) or amyotrophic lateral sclerosis (als). |
2013-03-19 |
2023-08-12 |
Not clear |
| Nicola J Rutherford, Michael G Heckman, Mariely Dejesus-Hernandez, Matt C Baker, Alexandra I Soto-Ortolaza, Sruti Rayaprolu, Heather Stewart, Elizabeth Finger, Kathryn Volkening, William W Seeley, Kimmo J Hatanpaa, Catherine Lomen-Hoerth, Andrew Kertesz, Eileen H Bigio, Carol Lippa, David S Knopman, Hans A Kretzschmar, Manuela Neumann, Richard J Caselli, Charles L White, Ian R Mackenzie, Ronald C Petersen, Michael J Strong, Bruce L Miller, Bradley F Boeve, Ryan J Uitti, Kevin B Boylan, Zbigniew K Wszolek, Neill R Graff-Radford, Dennis W Dickson, Owen A Ross, Rosa Rademaker. Length of normal alleles of C9ORF72 GGGGCC repeat do not influence disease phenotype. Neurobiology of aging. vol 33. issue 12. 2013-03-12. PMID:22840558. |
expansions of the noncoding ggggcc hexanucleotide repeat in the chromosome 9 open reading frame 72 (c9orf72) gene cause frontotemporal dementia (ftd) and amyotrophic lateral sclerosis (als). |
2013-03-12 |
2023-08-12 |
Not clear |
| David Wallon, Anne Rovelet-Lecrux, Vincent Deramecourt, Jeremie Pariente, Sophie Auriacombe, Isabelle Le Ber, Suzanna Schraen, Florence Pasquier, Dominique Campion, Didier Hannequi. Definite behavioral variant of frontotemporal dementia with C9ORF72 expansions despite positive Alzheimer's disease cerebrospinal fluid biomarkers. Journal of Alzheimer's disease : JAD. vol 32. issue 1. 2013-02-20. PMID:22766732. |
definite behavioral variant of frontotemporal dementia with c9orf72 expansions despite positive alzheimer's disease cerebrospinal fluid biomarkers. |
2013-02-20 |
2023-08-12 |
Not clear |
| Elisa Majounie, Yevgeniya Abramzon, Alan E Renton, Margaux F Keller, Bryan J Traynor, Andrew B Singleto. Large C9orf72 repeat expansions are not a common cause of Parkinson's disease. Neurobiology of aging. vol 33. issue 10. 2013-01-21. PMID:22721568. |
we sought to determine the contribution of c9orf72 repeat expansions, recently discovered as a cause of frontotemporal dementia and amyotrophic lateral sclerosis, in a large number of parkinson's disease patients. |
2013-01-21 |
2023-08-12 |
Not clear |
| 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. |
recently, a hexanucleotide repeat expansion in c9orf72 was identified as the most common cause of both sporadic and familial amyotrophic lateral sclerosis (als) and frontotemporal dementia in western populations. |
2013-01-21 |
2023-08-12 |
Not clear |