| Publication |
Sentence |
Publish Date |
Extraction Date |
Species |
| Chin-Hsien Lin, Ta-Fu Chen, Ming-Jang Chiu, Han-I Lin, Ruey-Meei W. Lack of c9orf72 repeat expansion in taiwanese patients with mixed neurodegenerative disorders. Frontiers in neurology. vol 5. 2014-05-07. PMID:24803912. |
the aim of this study was to analyze the hexanucleotide repeat numbers of c9orf72 gene in a mixed taiwanese cohort with ftd, parkinsonism syndrome, parkinson's disease (pd), and alzheimer's dementia (ad). |
2014-05-07 |
2023-08-13 |
Not clear |
| John Beck, Alan Pittman, Gary Adamson, Tracy Campbell, Joanna Kenny, Henry Houlden, Jon D Rohrer, Rohan de Silva, Maryam Shoai, James Uphill, Mark Poulter, John Hardy, Catherine J Mummery, Jason D Warren, Jonathan M Schott, Nick C Fox, Martin N Rossor, John Collinge, Simon Mea. Validation of next-generation sequencing technologies in genetic diagnosis of dementia. Neurobiology of aging. vol 35. issue 1. 2014-04-23. PMID:23998997. |
we developed gene panel based technologies to assess 16 genes known to harbour mutations causal of dementia and combined these with pcr based assessments of the c9orf72 hexanucleotide repeat expansion and the octapeptide repeat region of prnp. |
2014-04-23 |
2023-08-12 |
Not clear |
| John D Cleary, Laura P W Ranu. Repeat-associated non-ATG (RAN) translation in neurological disease. Human molecular genetics. vol 22. issue R1. 2014-04-02. PMID:23918658. |
to date, ran proteins have been reported in spinocerebellar ataxia type 8 (sca8), myotonic dystrophy type 1 (dm1), fragile x tremor ataxia syndrome (fxtas) and c9orf72 amyotrophic lateral sclerosis/frontotemporal dementia (als/ftd). |
2014-04-02 |
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 |
| Matthew B Harms, Janet Cady, Craig Zaidman, Paul Cooper, Taha Bali, Peggy Allred, Carlos Cruchaga, Michael Baughn, Ryan T Libby, Alan Pestronk, Alison Goate, John Ravits, Robert H Balo. Lack of C9ORF72 coding mutations supports a gain of function for repeat expansions in amyotrophic lateral sclerosis. Neurobiology of aging. vol 34. issue 9. 2014-01-17. PMID:23597494. |
hexanucleotide repeat expansions in c9orf72 are a common cause of familial and apparently sporadic amyotrophic lateral sclerosis (als) and frontal temporal dementia (ftd). |
2014-01-17 |
2023-08-12 |
Not clear |
| Miriam H Meisler, Adrienne E Grant, Julie M Jones, Guy M Lenk, Fang He, Peter K Todd, Masoud Kamali, Roger L Albin, Andrew P Lieberman, Scott A Langenecker, Melvin G McInni. C9ORF72 expansion in a family with bipolar disorder. Bipolar disorders. vol 15. issue 3. 2013-10-28. PMID:23551834. |
to investigate the role in bipolar disorder of the c9orf72 hexanucleotide repeat expansion responsible for frontotemporal lobe dementia and amyotrophic lateral sclerosis. |
2013-10-28 |
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. |
aus-12 dna samples were negative for mutations in all known dementia and als genes, including c9orf72 and fus. |
2013-09-16 |
2023-08-12 |
Not clear |
| b' Andrea Calvo, Cristina Moglia, Antonio Canosa, Angelina Cistaro, Consuelo Valentini, Giovanna Carrara, Enzo Soldano, Antonio Ilardi, Enrica Bersano, Davide Bertuzzo, Maura Brunetti, Irene Ossola, Gabriella Restagno, Adriano Chi\\xc3\\xb. Amyotrophic lateral sclerosis/frontotemporal dementia with predominant manifestations of obsessive-compulsive disorder associated to GGGGCC expansion of the c9orf72 gene. Journal of neurology. vol 259. issue 12. 2013-09-05. PMID:22918453.' |
amyotrophic lateral sclerosis/frontotemporal dementia with predominant manifestations of obsessive-compulsive disorder associated to ggggcc expansion of the c9orf72 gene. |
2013-09-05 |
2023-08-12 |
Not clear |
| 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. |
therefore the c9orf72 hexanucleotide repeat expansion appears to be specific to tdp-43 driven amyotrophic lateral sclerosis and dementia. |
2013-08-09 |
2023-08-12 |
Not clear |
| Julie van der Zee, Ilse Gijselinck, Lubina Dillen, Tim Van Langenhove, Jessie Theuns, Sebastiaan Engelborghs, Stéphanie Philtjens, Mathieu Vandenbulcke, Kristel Sleegers, Anne Sieben, Veerle Bäumer, Githa Maes, Ellen Corsmit, Barbara Borroni, Alessandro Padovani, Silvana Archetti, Robert Perneczky, Janine Diehl-Schmid, Alexandre de Mendonça, Gabriel Miltenberger-Miltenyi, Sónia Pereira, José Pimentel, Benedetta Nacmias, Silvia Bagnoli, Sandro Sorbi, Caroline Graff, Huei-Hsin Chiang, Marie Westerlund, Raquel Sanchez-Valle, Albert Llado, Ellen Gelpi, Isabel Santana, Maria Rosário Almeida, Beatriz Santiago, Giovanni Frisoni, Orazio Zanetti, Cristian Bonvicini, Matthis Synofzik, Walter Maetzler, Jennifer Müller Vom Hagen, Ludger Schöls, Michael T Heneka, Frank Jessen, Radoslav Matej, Eva Parobkova, Gabor G Kovacs, Thomas Ströbel, Stayko Sarafov, Ivailo Tournev, Albena Jordanova, Adrian Danek, Thomas Arzberger, Gian Maria Fabrizi, Silvia Testi, Eric Salmon, Patrick Santens, Jean-Jacques Martin, Patrick Cras, Rik Vandenberghe, Peter Paul De Deyn, Marc Cruts, Christine Van Broeckhoven, Julie van der Zee, Ilse Gijselinck, Lubina Dillen, Tim Van Langenhove, Jessie Theuns, Stéphanie Philtjens, Kristel Sleegers, Veerle Bäumer, Githa Maes, Ellen Corsmit, Marc Cruts, Christine Van Broeckhoven, Julie van der Zee, Ilse Gijselinck, Lubina Dillen, Tim Van Langenhove, Stéphanie Philtjens, Jessie Theuns, Kristel Sleegers, Veerle Bäumer, Githa Maes, Marc Cruts, Christine Van Broeckhoven, Sebastiaan Engelborghs, Peter P De Deyn, Patrick Cras, Sebastiaan Engelborghs, Peter P De Deyn, Mathieu Vandenbulcke, Mathieu Vandenbulcke, Barbara Borroni, Alessandro Padovani, Silvana Archetti, Robert Perneczky, Janine Diehl-Schmid, Matthis Synofzik, Walter Maetzler, Jennifer Müller Vom Hagen, Ludger Schöls, Matthis Synofzik, Walter Maetzler, Jennifer Müller Vom Hagen, Ludger Schöls, Michael T Heneka, Frank Jessen, Alfredo Ramirez, Delia Kurzwelly, Carmen Sachtleben, Wolfgang Mairer, Alexandre de Mendonça, Gabriel Miltenberger-Miltenyi, Sónia Pereira, Clara Firmo, José Pimentel, Raquel Sanchez-Valle, Albert Llado, Anna Antonell, Jose Molinuevo, Ellen Gelpi, Caroline Graff, Huei-Hsin Chiang, Marie Westerlund, Caroline Graff, Anne Kinhult Ståhlbom, Håkan Thonberg, Inger Nennesmo, Anne Börjesson-Hanson, Benedetta Nacmias, Silvia Bagnoli, Sandro Sorbi, Valentina Bessi, Irene Piaceri, Isabel Santana, Beatriz Santiago, Isabel Santana, Maria Helena Ribeiro, Maria Rosário Almeida, Catarina Oliveira, João Massano, Carolina Garret, Paula Pires, Giovanni Frisoni, Orazio Zanetti, Cristian Bonvicini, Stayko Sarafov, Ivailo Tournev, Albena Jordanova, Ivailo Tournev, Gabor G Kovacs, Thomas Ströbel, Michael T Heneka, Frank Jessen, Alfredo Ramirez, Delia Kurzwelly, Carmen Sachtleben, Wolfgang Mairer, Frank Jessen, Radoslav Matej, Eva Parobkova, Adrian Danel, Thomas Arzberger, Gian Maria Fabrizi, Silvia Testi, Sergio Ferrari, Tiziana Cavallaro, Eric Salmon, Patrick Santens, Patrick Cra. A pan-European study of the C9orf72 repeat associated with FTLD: geographic prevalence, genomic instability, and intermediate repeats. Human mutation. vol 34. issue 2. 2013-07-26. PMID:23111906. |
we assessed the geographical distribution of c9orf72 g(4) c(2) expansions in a pan-european frontotemporal lobar degeneration (ftld) cohort (n = 1,205), ascertained by the european early-onset dementia (eod) consortium. |
2013-07-26 |
2023-08-12 |
Not clear |
| Suzanne Lesage, Isabelle Le Ber, Christel Condroyer, Emmanuel Broussolle, Audrey Gabelle, Stéphane Thobois, Florence Pasquier, Karl Mondon, Patrick A Dion, Daniel Rochefort, Guy A Rouleau, Alexandra Dürr, Alexis Bric. C9orf72 repeat expansions are a rare genetic cause of parkinsonism. Brain : a journal of neurology. vol 136. issue Pt 2. 2013-04-10. PMID:23413259. |
therefore, we looked for c9orf72 repeat expansions in 1446 unrelated parkinsonian patients consisting of 1225 patients clinically diagnosed with parkinson's disease, 123 with progressive supranuclear palsy, 21 with corticobasal degeneration syndrome, 43 with lewy body dementia and 25 with multiple system atrophy-parkinsonism. |
2013-04-10 |
2023-08-12 |
Not clear |
| Suzanne Lesage, Isabelle Le Ber, Christel Condroyer, Emmanuel Broussolle, Audrey Gabelle, Stéphane Thobois, Florence Pasquier, Karl Mondon, Patrick A Dion, Daniel Rochefort, Guy A Rouleau, Alexandra Dürr, Alexis Bric. C9orf72 repeat expansions are a rare genetic cause of parkinsonism. Brain : a journal of neurology. vol 136. issue Pt 2. 2013-04-10. PMID:23413259. |
this study shows that (i) although rare, c9orf72 repeat expansions may be associated with clinically typical parkinson's disease and also with other parkinsonism; (ii) in several patients, parkinsonism was levodopa-responsive and remained pure, without associated dementia, for >10 years and (iii) interestingly, all c9orf72 repeat expansion carriers had positive family histories of parkinsonism, degenerative dementias or amyotrophic lateral sclerosis. |
2013-04-10 |
2023-08-12 |
Not clear |
| Matthis Synofzik, Saskia Biskup, Thomas Leyhe, Matthias Reimold, Andreas J Fallgatter, Florian Metzge. Suicide attempt as the presenting symptom of C9orf72 dementia. The American journal of psychiatry. vol 169. issue 11. 2013-03-27. PMID:23128926. |
suicide attempt as the presenting symptom of c9orf72 dementia. |
2013-03-27 |
2023-08-12 |
Not clear |
| Dapeng Zhang, Lakshminarayan M Iyer, Fang He, L Aravin. Discovery of Novel DENN Proteins: Implications for the Evolution of Eukaryotic Intracellular Membrane Structures and Human Disease. Frontiers in genetics. vol 3. 2012-12-19. PMID:23248642. |
another novel denn protein identified in this study is c9orf72; expansions of the hexanucleotide ggggcc in its first intron have been recently implicated in amyotrophic lateral sclerosis (als) and fronto-temporal dementia (ftd). |
2012-12-19 |
2023-08-12 |
human |
| Julie S Snowden, Sarah Rollinson, Chloe Lafon, Jennifer Harris, Jennifer Thompson, Anna M Richardson, Matthew Jones, Alexander Gerhard, David Neary, David M A Mann, Stuart Pickering-Brow. Psychosis, C9ORF72 and dementia with Lewy bodies. Journal of neurology, neurosurgery, and psychiatry. vol 83. issue 10. 2012-11-27. PMID:22832738. |
psychosis, c9orf72 and dementia with lewy bodies. |
2012-11-27 |
2023-08-12 |
Not clear |
| Seán O'Dowd, Denis Curtin, Adrian J Waite, Kinley Roberts, Niall Pender, Valerie Reid, Martin O'Connell, Nigel M Williams, Huw R Morris, Bryan J Traynor, Timothy Lync. C9ORF72 expansion in amyotrophic lateral sclerosis/frontotemporal dementia also causes parkinsonism. Movement disorders : official journal of the Movement Disorder Society. vol 27. issue 8. 2012-11-21. PMID:22807188. |
c9orf72 expansion in amyotrophic lateral sclerosis/frontotemporal dementia also causes parkinsonism. |
2012-11-21 |
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. |
dementia was significantly more common in als patients and families with the c9orf72 mutation and was usually early-onset ftd. |
2012-07-23 |
2023-08-12 |
human |
| Julie S Snowden, Sara Rollinson, Jennifer C Thompson, Jennifer M Harris, Cheryl L Stopford, Anna M T Richardson, Matthew Jones, Alex Gerhard, Yvonne S Davidson, Andrew Robinson, Linda Gibbons, Quan Hu, Daniel DuPlessis, David Neary, David M A Mann, Stuart M Pickering-Brow. Distinct clinical and pathological characteristics of frontotemporal dementia associated with C9ORF72 mutations. Brain : a journal of neurology. vol 135. issue Pt 3. 2012-04-09. PMID:22300873. |
in this study, we screened a cohort of 398 patients with frontotemporal dementia, progressive non-fluent aphasia, semantic dementia or mixture of these syndromes for mutations in the c9orf72 gene. |
2012-04-09 |
2023-08-12 |
Not clear |
| Johnathan Cooper-Knock, Christopher Hewitt, J Robin Highley, Alice Brockington, Antonio Milano, Somai Man, Joanne Martindale, Judith Hartley, Theresa Walsh, Catherine Gelsthorpe, Lynne Baxter, Gillian Forster, Melanie Fox, Joanna Bury, Kin Mok, Christopher J McDermott, Bryan J Traynor, Janine Kirby, Stephen B Wharton, Paul G Ince, John Hardy, Pamela J Sha. Clinico-pathological features in amyotrophic lateral sclerosis with expansions in C9ORF72. Brain : a journal of neurology. vol 135. issue Pt 3. 2012-04-09. PMID:22366792. |
dementia was present in the patient or a close family member in 22/62 cases with c9orf72 mutation (35%) based on diagnoses established from retrospective clinical case note review that may underestimate significant cognitive changes in late disease. |
2012-04-09 |
2023-08-12 |
Not clear |