| Publication |
Sentence |
Publish Date |
Extraction Date |
Species |
| Muireann Irish, Emma Devenney, Stephanie Wong, Carol Dobson-Stone, John B Kwok, Olivier Piguet, John R Hodges, Michael Hornberge. Neural substrates of episodic memory dysfunction in behavioural variant frontotemporal dementia with and without C9ORF72 expansions. NeuroImage. Clinical. vol 2. 2013-11-01. PMID:24179835. |
neural substrates of episodic memory dysfunction in behavioural variant frontotemporal dementia with and without c9orf72 expansions. |
2013-11-01 |
2023-08-12 |
human |
| Muireann Irish, Emma Devenney, Stephanie Wong, Carol Dobson-Stone, John B Kwok, Olivier Piguet, John R Hodges, Michael Hornberge. Neural substrates of episodic memory dysfunction in behavioural variant frontotemporal dementia with and without C9ORF72 expansions. NeuroImage. Clinical. vol 2. 2013-11-01. PMID:24179835. |
the recently discovered hexanucleotide repeat expansion, c9orf72, has been shown to be among the most common cause of familial behavioural variant frontotemporal dementia (bvftd) and to be present in a significant minority of apparently sporadic cases. |
2013-11-01 |
2023-08-12 |
human |
| Isabelle Le Ber, Agnès Camuzat, Lena Guillot-Noel, Didier Hannequin, Lucette Lacomblez, Véronique Golfier, Michèle Puel, Olivier Martinaud, Vincent Deramecourt, Sophie Rivaud-Pechoux, Stéphanie Millecamps, Martine Vercelletto, Philippe Couratier, François Sellal, Florence Pasquier, François Salachas, Catherine Thomas-Antérion, Mira Didic, Jérémie Pariente, Danielle Seilhean, Merle Ruberg, Isabelle Wargon, Frédéric Blanc, William Camu, Bernard-François Michel, Eric Berger, Mathilde Sauvée, Christel Thauvin-Robinet, Karl Mondon, Elisabeth Tournier-Lasserve, Cyril Goizet, Marie Fleury, Gabriel Viennet, Patrice Verpillat, Vincent Meininger, Charles Duyckaerts, Bruno Dubois, Alexis Bric. C9ORF72 repeat expansions in the frontotemporal dementias spectrum of diseases: a flow-chart for genetic testing. Journal of Alzheimer's disease : JAD. vol 34. issue 2. 2013-10-29. PMID:23254636. |
c9orf72 repeat expansions in the frontotemporal dementias spectrum of diseases: a flow-chart for genetic testing. |
2013-10-29 |
2023-08-12 |
Not clear |
| Gianluca Floris, Giuseppe Borghero, Antonino Cannas, Francesca Di Stefano, Maria R Murru, Daniela Corongiu, Stefania Cuccu, Stefania Tranquilli, Maria G Marrosu, Adriano Chiò, Francesco Marros. Bipolar affective disorder preceding frontotemporal dementia in a patient with C9ORF72 mutation: is there a genetic link between these two disorders? Journal of neurology. vol 260. issue 4. 2013-09-26. PMID:23314407. |
bipolar affective disorder preceding frontotemporal dementia in a patient with c9orf72 mutation: is there a genetic link between these two disorders? |
2013-09-26 |
2023-08-12 |
Not clear |
| Bin Jiao, Ji-Feng Guo, Ya-Qin Wang, Xin-Xiang Yan, Lin Zhou, Xiao-Yan Liu, Fu-Feng Zhang, Ya-Fang Zhou, Kun Xia, Bei-Sha Tang, Lu She. C9orf72 mutation is rare in Alzheimer's disease, Parkinson's disease, and essential tremor in China. Frontiers in cellular neuroscience. vol 7. 2013-09-26. PMID:24068985. |
ggggcc repeat expansions in the c9orf72 gene have been identified as a major contributing factor in patients with amyotrophic lateral sclerosis (als) and frontotemporal dementia (ftd). |
2013-09-26 |
2023-08-12 |
Not clear |
| Carol Dobson-Stone, Agnes A Luty, Elizabeth M Thompson, Peter Blumbergs, William S Brooks, Cathy L Short, Colin D Field, Peter K Panegyres, Jane Hecker, Jennifer A Solski, Ian P Blair, Janice M Fullerton, Glenda M Halliday, Peter R Schofield, John B J Kwo. Frontotemporal dementia-amyotrophic lateral sclerosis syndrome locus on chromosome 16p12.1-q12.2: genetic, clinical and neuropathological analysis. Acta neuropathologica. vol 125. issue 4. 2013-09-16. PMID:23338750. |
numerous families exhibiting both frontotemporal dementia (ftd) and amyotrophic lateral sclerosis (als) have been described, and although many of these have been shown to harbour a repeat expansion in c9orf72, several c9orf72-negative ftd-als families remain. |
2013-09-16 |
2023-08-12 |
Not clear |
| Andreas Puschman. Monogenic Parkinson's disease and parkinsonism: clinical phenotypes and frequencies of known mutations. Parkinsonism & related disorders. vol 19. issue 4. 2013-09-06. PMID:23462481. |
changes in a long list of additional genes have been suggested as causes for parkinsonism or pd, including genes for hereditary ataxias (atxn2, atxn3, fmr1), frontotemporal dementia (c9orf72, grn, mapt, tardbp), dyt5 (gch1, th, spr), and others (atp13a2, csf1r, dnajc6, fbxo, gigyf2, htra2, pla2g6, polg, spg11, uchl1). |
2013-09-06 |
2023-08-12 |
Not clear |
| Matthew Harms, Bruno A Benitez, Nigel Cairns, Breanna Cooper, Paul Cooper, Kevin Mayo, David Carrell, Kelley Faber, Jennifer Williamson, Tom Bird, Ramon Diaz-Arrastia, Tatiana M Foroud, Bradley F Boeve, Neill R Graff-Radford, Richard Mayeux, Sumitra Chakraverty, Alison M Goate, Carlos Cruchag. C9orf72 hexanucleotide repeat expansions in clinical Alzheimer disease. JAMA neurology. vol 70. issue 6. 2013-08-29. PMID:23588422. |
hexanucleotide repeat expansions in the chromosome 9 open reading frame 72 (c9orf72) gene underlie a significant fraction of frontotemporal dementia and amyotrophic lateral sclerosis. |
2013-08-29 |
2023-08-12 |
Not clear |
| Carol Dobson-Stone, Marianne Hallupp, Clement T Loy, Elizabeth M Thompson, Eric Haan, Carolyn M Sue, Peter K Panegyres, Cristina Razquin, Manuel Seijo-Martínez, Ramon Rene, Jordi Gascon, Jaume Campdelacreu, Birgit Schmoll, Alexander E Volk, William S Brooks, Peter R Schofield, Pau Pastor, John B J Kwo. C9ORF72 repeat expansion in Australian and Spanish frontotemporal dementia patients. PloS one. vol 8. issue 2. 2013-08-23. PMID:23437264. |
c9orf72 repeat expansion in australian and spanish frontotemporal dementia patients. |
2013-08-23 |
2023-08-12 |
Not clear |
| Carol Dobson-Stone, Marianne Hallupp, Clement T Loy, Elizabeth M Thompson, Eric Haan, Carolyn M Sue, Peter K Panegyres, Cristina Razquin, Manuel Seijo-Martínez, Ramon Rene, Jordi Gascon, Jaume Campdelacreu, Birgit Schmoll, Alexander E Volk, William S Brooks, Peter R Schofield, Pau Pastor, John B J Kwo. C9ORF72 repeat expansion in Australian and Spanish frontotemporal dementia patients. PloS one. vol 8. issue 2. 2013-08-23. PMID:23437264. |
a hexanucleotide repeat expansion in c9orf72 has been established as a common cause of frontotemporal dementia (ftd). |
2013-08-23 |
2023-08-12 |
Not clear |
| Martin A Kohli, Krista John-Williams, Ruchita Rajbhandary, Adam Naj, Patrice Whitehead, Kara Hamilton, Regina M Carney, Clinton Wright, Elizabeth Crocco, Harry E Gwirtzman, Rosalyn Lang, Gary Beecham, Eden R Martin, John Gilbert, Michael Benatar, Gary W Small, Deborah Mash, Goldie Byrd, Jonathan L Haines, Margaret A Pericak-Vance, Stephan Züchne. Repeat expansions in the C9ORF72 gene contribute to Alzheimer's disease in Caucasians. Neurobiology of aging. vol 34. issue 5. 2013-08-13. PMID:23107433. |
recently, a hexanucleotide repeat expansion in the c9orf72 gene has been identified to account for a significant portion of caucasian families affected by frontotemporal dementia (ftd) and amyotrophic lateral sclerosis (als). |
2013-08-13 |
2023-08-12 |
human |
| Matthew B Harms, Drexel Neumann, Bruno A Benitez, Breanna Cooper, David Carrell, Brad A Racette, Joel S Perlmutter, Alison Goate, Carlos Cruchag. Parkinson disease is not associated with C9ORF72 repeat expansions. Neurobiology of aging. vol 34. issue 5. 2013-08-13. PMID:23116878. |
hexanucleotide expansions in the c9orf72 gene are frequently found in patients with amyotrophic lateral sclerosis, frontotemporal dementia or both, some of whom exhibit concurrent extrapyramidal symptoms. |
2013-08-13 |
2023-08-12 |
human |
| Max Koppers, Ewout J N Groen, Paul W J van Vught, Wouter van Rheenen, Esther Witteveen, Michael A van Es, R Jeroen Pasterkamp, Leonard H van den Berg, Jan H Veldin. Screening for rare variants in the coding region of ALS-associated genes at 9p21.2 and 19p13.3. Neurobiology of aging. vol 34. issue 5. 2013-08-13. PMID:23141412. |
a hexanucleotide repeat expansion in the noncoding region of c9orf72 was recently identified as the cause of chromosome 9-linked als-ftd (frontotemporal dementia). |
2013-08-13 |
2023-08-12 |
human |
| Mariely Dejesus-Hernandez, Sruti Rayaprolu, Alexandra I Soto-Ortolaza, Nicola J Rutherford, Michael G Heckman, Sharleen Traynor, Audrey Strongosky, Neill Graff-Radford, Jay Van Gerpen, Ryan J Uitti, Jerry J Shih, Siong-Chi Lin, Zbigniew K Wszolek, Rosa Rademakers, Owen A Ros. Analysis of the C9orf72 repeat in Parkinson's disease, essential tremor and restless legs syndrome. Parkinsonism & related disorders. vol 19. issue 2. 2013-08-09. PMID:23084342. |
the hexanucleotide expanded repeat (ggggcc) in intron 1 of the c9orf72 gene is recognized as the most common genetic form of amyotrophic lateral sclerosis (als) and frontotemporal dementia (ftd). |
2013-08-09 |
2023-08-12 |
Not clear |
| Marco Luigetti, Davide Quaranta, Amelia Conte, Chiara Piccininni, Serena Lattante, Angela Romano, Gabriella Silvestri, Marcella Zollino, Mario Sabatell. Frontotemporal dementia, Parkinsonism and lower motor neuron involvement in a patient with C9ORF72 expansion. Amyotrophic lateral sclerosis & frontotemporal degeneration. vol 14. issue 1. 2013-08-01. PMID:22708871. |
frontotemporal dementia, parkinsonism and lower motor neuron involvement in a patient with c9orf72 expansion. |
2013-08-01 |
2023-08-12 |
Not clear |
| Marco Luigetti, Davide Quaranta, Amelia Conte, Chiara Piccininni, Serena Lattante, Angela Romano, Gabriella Silvestri, Marcella Zollino, Mario Sabatell. Frontotemporal dementia, Parkinsonism and lower motor neuron involvement in a patient with C9ORF72 expansion. Amyotrophic lateral sclerosis & frontotemporal degeneration. vol 14. issue 1. 2013-08-01. PMID:22708871. |
it has been recently reported that a large proportion of patients with familial and sporadic amyotrophic lateral sclerosis (als) and/or frontotemporal dementia (ftd) carries the hexanucleotide (ggggcc) repeat expansion in the first intron of c9orf72. |
2013-08-01 |
2023-08-12 |
Not clear |
| Catarina Chester, Mamede de Carvalho, Gabriel Miltenberger, Sónia Pereira, Lubina Dillen, Julie van der Zee, Christine van Broeckhoven, Alexandre de Mendonç. Rapidly progressive frontotemporal dementia and bulbar amyotrophic lateral sclerosis in Portuguese patients with C9orf72 mutation. Amyotrophic lateral sclerosis & frontotemporal degeneration. vol 14. issue 1. 2013-08-01. PMID:22742426. |
rapidly progressive frontotemporal dementia and bulbar amyotrophic lateral sclerosis in portuguese patients with c9orf72 mutation. |
2013-08-01 |
2023-08-12 |
Not clear |
| Chizuru Akimoto, Lars Forsgren, Jan Linder, Anna Birve, Irene Backlund, Jörgen Andersson, Ann-Charloth Nilsson, Helena Alstermark, Peter M Anderse. No GGGGCC-hexanucleotide repeat expansion in C9ORF72 in parkinsonism patients in Sweden. Amyotrophic lateral sclerosis & frontotemporal degeneration. vol 14. issue 1. 2013-08-01. PMID:22985429. |
an intronic ggggcc-hexanucleotide repeat expansion in c9orf72 was recently identified as a major cause of amyotrophic lateral sclerosis and frontotemporal dementia. |
2013-08-01 |
2023-08-12 |
human |
| Edward D Huey, Peter L Nagy, Laura Rodriguez-Murillo, Masood Manoochehri, Jill Goldman, Jeffrey Lieberman, Maria Karayiorgou, Richard Mayeu. C9ORF72 repeat expansions not detected in a group of patients with schizophrenia. Neurobiology of aging. vol 34. issue 4. 2013-08-01. PMID:23036583. |
a hexanucleotide repeat expansion in c9orf72 was recently found to cause some cases of frontotemporal lobar degeneration, frontotemporal dementia (ftd)-amyotrophic lateral sclerosis, and amyotrophic lateral sclerosis. |
2013-08-01 |
2023-08-12 |
human |
| Rosa Rademakers, Marka van Blitterswij. Motor neuron disease in 2012: Novel causal genes and disease modifiers. Nature reviews. Neurology. vol 9. issue 2. 2013-07-08. PMID:23318296. |
in 2012, researchers published extensively on the genetic and clinicopathological characterization of patients with the newly discovered c9orf72 repeat expansions, which cause amyotrophic lateral sclerosis (als) and frontotemporal dementia. |
2013-07-08 |
2023-08-12 |
Not clear |