| Publication |
Sentence |
Publish Date |
Extraction Date |
Species |
| Bhuvaneish T Selvaraj, Matthew R Livesey, Siddharthan Chandra. Modeling the C9ORF72 repeat expansion mutation using human induced pluripotent stem cells. Brain pathology (Zurich, Switzerland). vol 27. issue 4. 2018-03-16. PMID:28585384. |
c9orf72 repeat expansion is the most frequent causal genetic mutation giving rise to amyotrophic lateral sclerosis (als) and fronto-temporal dementia (ftd). |
2018-03-16 |
2023-08-13 |
human |
| David M A Mann, Julie S Snowde. Frontotemporal lobar degeneration: Pathogenesis, pathology and pathways to phenotype. Brain pathology (Zurich, Switzerland). vol 27. issue 6. 2018-01-26. PMID:28100023. |
there are three major associated clinical syndromes, behavioral variant frontotemporal dementia (bvftd), semantic dementia (sd) and progressive non-fluent aphasia (pnfa); three principal histologies, involving tau, tdp-43 and fus proteins; and mutations in three major genes, mapt, grn and c9orf72, along with several other less common gene mutations. |
2018-01-26 |
2023-08-13 |
Not clear |
| Celia Kun-Rodrigues, Owen A Ross, Tatiana Orme, Claire Shepherd, Laura Parkkinen, Lee Darwent, Dena Hernandez, Olaf Ansorge, Lorraine N Clark, Lawrence S Honig, Karen Marder, Afina Lemstra, Philippe Scheltens, Wiesje van der Flier, Eva Louwersheimer, Henne Holstege, Ekaterina Rogaeva, Peter St George-Hyslop, Elisabet Londos, Henrik Zetterberg, Imelda Barber, Anne Braae, Kristelle Brown, Kevin Morgan, Walter Maetzler, Daniela Berg, Claire Troakes, Safa Al-Sarraj, Tammaryn Lashley, Janice Holton, Yaroslau Compta, Vivianna Van Deerlin, John Q Trojanowski, Geidy E Serrano, Thomas G Beach, Jordi Clarimon, Alberto Lleó, Estrella Morenas-Rodríguez, Suzanne Lesage, Douglas Galasko, Eliezer Masliah, Isabel Santana, Monica Diez, Pau Pastor, Pentti J Tienari, Liisa Myllykangas, Minna Oinas, Tamas Revesz, Andrew Lees, Brad F Boeve, Ronald C Petersen, Tanis J Ferman, Valentina Escott-Price, Neill Graff-Radford, Nigel J Cairns, John C Morris, David J Stone, Stuart Pickering-Brown, David Mann, Dennis W Dickson, Glenda M Halliday, Andrew Singleton, Rita Guerreiro, Jose Bra. Analysis of C9orf72 repeat expansions in a large international cohort of dementia with Lewy bodies. Neurobiology of aging. vol 49. 2017-11-16. PMID:27666590. |
analysis of c9orf72 repeat expansions in a large international cohort of dementia with lewy bodies. |
2017-11-16 |
2023-08-13 |
Not clear |
| Celia Kun-Rodrigues, Owen A Ross, Tatiana Orme, Claire Shepherd, Laura Parkkinen, Lee Darwent, Dena Hernandez, Olaf Ansorge, Lorraine N Clark, Lawrence S Honig, Karen Marder, Afina Lemstra, Philippe Scheltens, Wiesje van der Flier, Eva Louwersheimer, Henne Holstege, Ekaterina Rogaeva, Peter St George-Hyslop, Elisabet Londos, Henrik Zetterberg, Imelda Barber, Anne Braae, Kristelle Brown, Kevin Morgan, Walter Maetzler, Daniela Berg, Claire Troakes, Safa Al-Sarraj, Tammaryn Lashley, Janice Holton, Yaroslau Compta, Vivianna Van Deerlin, John Q Trojanowski, Geidy E Serrano, Thomas G Beach, Jordi Clarimon, Alberto Lleó, Estrella Morenas-Rodríguez, Suzanne Lesage, Douglas Galasko, Eliezer Masliah, Isabel Santana, Monica Diez, Pau Pastor, Pentti J Tienari, Liisa Myllykangas, Minna Oinas, Tamas Revesz, Andrew Lees, Brad F Boeve, Ronald C Petersen, Tanis J Ferman, Valentina Escott-Price, Neill Graff-Radford, Nigel J Cairns, John C Morris, David J Stone, Stuart Pickering-Brown, David Mann, Dennis W Dickson, Glenda M Halliday, Andrew Singleton, Rita Guerreiro, Jose Bra. Analysis of C9orf72 repeat expansions in a large international cohort of dementia with Lewy bodies. Neurobiology of aging. vol 49. 2017-11-16. PMID:27666590. |
to date, no large-scale study of dementia with lewy bodies (dlb) has been undertaken to assess the role of c9orf72 repeat expansions in the disease. |
2017-11-16 |
2023-08-13 |
Not clear |
| Joshua T Geiger, Karissa C Arthur, Ted M Dawson, Liana S Rosenthal, Alexander Pantelyat, Marilyn Albert, Argye E Hillis, Barbara Crain, Olga Pletnikova, Juan C Troncoso, Sonja W Schol. C9orf72 Hexanucleotide Repeat Analysis in Cases with Pathologically Confirmed Dementia with Lewy Bodies. Neuro-degenerative diseases. vol 16. issue 5-6. 2017-09-13. PMID:27241037. |
c9orf72 hexanucleotide repeat analysis in cases with pathologically confirmed dementia with lewy bodies. |
2017-09-13 |
2023-08-13 |
Not clear |
| Ross Ferguson, Eleni Serafeimidou-Pouliou, Vasanta Subramania. Dynamic expression of the mouse orthologue of the human amyotropic lateral sclerosis associated gene C9orf72 during central nervous system development and neuronal differentiation. Journal of anatomy. vol 229. issue 6. 2017-09-05. PMID:27476503. |
the hexanucleotide repeat in the first intron of the c9orf72 gene is the most significant cause of amyotropic lateral sclerosis as well as some forms of fronto-temporal dementia. |
2017-09-05 |
2023-08-13 |
mouse |
| Gamze Guven, Ebba Lohmann, Jose Bras, J Raphael Gibbs, Hakan Gurvit, Basar Bilgic, Hasmet Hanagasi, Patrizia Rizzu, Peter Heutink, Murat Emre, Nihan Erginel-Unaltuna, Walter Just, John Hardy, Andrew Singleton, Rita Guerreir. Mutation Frequency of the Major Frontotemporal Dementia Genes, MAPT, GRN and C9ORF72 in a Turkish Cohort of Dementia Patients. PloS one. vol 11. issue 9. 2017-08-02. PMID:27632209. |
mutation frequency of the major frontotemporal dementia genes, mapt, grn and c9orf72 in a turkish cohort of dementia patients. |
2017-08-02 |
2023-08-13 |
Not clear |
| Gamze Guven, Ebba Lohmann, Jose Bras, J Raphael Gibbs, Hakan Gurvit, Basar Bilgic, Hasmet Hanagasi, Patrizia Rizzu, Peter Heutink, Murat Emre, Nihan Erginel-Unaltuna, Walter Just, John Hardy, Andrew Singleton, Rita Guerreir. Mutation Frequency of the Major Frontotemporal Dementia Genes, MAPT, GRN and C9ORF72 in a Turkish Cohort of Dementia Patients. PloS one. vol 11. issue 9. 2017-08-02. PMID:27632209. |
therefore we investigated whether mapt, grn and c9orf72 gene mutations are major contributors to dementia in a random, unselected turkish cohort of dementia patients. |
2017-08-02 |
2023-08-13 |
Not clear |
| Gamze Guven, Ebba Lohmann, Jose Bras, J Raphael Gibbs, Hakan Gurvit, Basar Bilgic, Hasmet Hanagasi, Patrizia Rizzu, Peter Heutink, Murat Emre, Nihan Erginel-Unaltuna, Walter Just, John Hardy, Andrew Singleton, Rita Guerreir. Mutation Frequency of the Major Frontotemporal Dementia Genes, MAPT, GRN and C9ORF72 in a Turkish Cohort of Dementia Patients. PloS one. vol 11. issue 9. 2017-08-02. PMID:27632209. |
in summary, a complete screening for mutations in mapt, grn and c9orf72 genes revealed a frequency of 5.4% of pathogenic mutations in a random cohort of 93 turkish index patients with dementia. |
2017-08-02 |
2023-08-13 |
Not clear |
| Niran Maharjan, Christina Künzli, Kilian Buthey, Smita Saxen. C9ORF72 Regulates Stress Granule Formation and Its Deficiency Impairs Stress Granule Assembly, Hypersensitizing Cells to Stress. Molecular neurobiology. vol 54. issue 4. 2017-07-07. PMID:27037575. |
hexanucleotide repeat expansions in the c9orf72 gene are causally associated with frontotemporal lobar dementia (ftld) and/or amyotrophic lateral sclerosis (als). |
2017-07-07 |
2023-08-13 |
Not clear |
| Tiffany W Todd, Leonard Petrucell. Insights into the pathogenic mechanisms of Chromosome 9 open reading frame 72 (C9orf72) repeat expansions. Journal of neurochemistry. vol 138 Suppl 1. 2017-06-09. PMID:27016280. |
a repeat expansion in c9orf72 is a common cause of both frontal temporal dementia and amyotrophic lateral sclerosis. |
2017-06-09 |
2023-08-13 |
Not clear |
| Estrella Gómez-Tortosa, Cristina Prieto-Jurczynska, Soledad Serrano, Emilio Franco-Macías, Laura Olivié, Jesús Gallego, Rosa Guerrero-López, María José Trujillo-Tiebas, Carmen Ayuso, Pedro García Ruiz, Julián Pérez-Pérez, María José Sain. Diversity of Cognitive Phenotypes Associated with C9ORF72 Hexanucleotide Expansion. Journal of Alzheimer's disease : JAD. vol 52. issue 1. 2017-01-27. PMID:26967212. |
c9orf72 mutation has a low frequency in our dementia series and very diverse clinical manifestations. |
2017-01-27 |
2023-08-13 |
Not clear |
| Maria Rosário Almeida, Liliana Letra, Paula Pires, Ana Santos, Olinda Rebelo, Rita Guerreiro, Julie van der Zee, Christine Van Broeckhoven, Isabel Santan. Characterization of an FTLD-PDB family with the coexistence of SQSTM1 mutation and hexanucleotide (G₄C₂) repeat expansion in C9orf72 gene. Neurobiology of aging. vol 40. 2016-12-13. PMID:26839080. |
amongst the 6 family members analyzed, the p.p392l sqstm1 mutation segregated as expected with pdb, whereas the c9orf72 expansion segregated with frontal cognitive impairment or dementia in all but one carrier. |
2016-12-13 |
2023-08-13 |
Not clear |
| Alondra Schweizer Burguete, Sandra Almeida, Fen-Biao Gao, Robert Kalb, Michael R Akins, Nancy M Bonin. GGGGCC microsatellite RNA is neuritically localized, induces branching defects, and perturbs transport granule function. eLife. vol 4. 2016-10-11. PMID:26650351. |
here we demonstrate that ggggcc and cag microsatellite repeat rnas associated with c9orf72 in amyotrophic lateral sclerosis/frontotemporal dementia and with polyglutamine diseases, respectively, localize to neuritic granules that undergo active transport into distal neuritic segments. |
2016-10-11 |
2023-08-13 |
human |
| Annie Watson, Mochtar Pribadi, Kodavali Chowdari, Sue Clifton, Joel Wood, Bruce L Miller, Giovanni Coppola, Vishwajit Nimgaonka. C9orf72 repeat expansions that cause frontotemporal dementia are detectable among patients with psychosis. Psychiatry research. vol 235. 2016-09-19. PMID:26723138. |
among participants in a genetic study of psychoses (n=739), two pairs of related individuals had c9orf72 expansions, of whom three were diagnosed with schizophrenia (sz) / schizoaffective disorder (sza), but their clinical features did not suggest dementia or als. |
2016-09-19 |
2023-08-13 |
human |
| Antonino Cannas, Paolo Solla, Giuseppe Borghero, Gian Luca Floris, Adriano Chio, Marcello Mario Mascia, Nicola Modugno, Antonella Muroni, Gianni Orofino, Francesca Di Stefano, Andrea Calvo, Cristina Moglia, Gabriella Restagno, Mario Meloni, Rita Farris, Daniela Ciaccio, Roberta Puddu, Melisa Iris Vacca, Rosanna Melis, Maria Rita Murru, Stefania Tranquilli, Daniela Corongiu, Marcella Rolesu, Stefania Cuccu, Maria Giovanna Marrosu, Francesco Marros. C9ORF72 intermediate repeat expansion in patients affected by atypical parkinsonian syndromes or Parkinson's disease complicated by psychosis or dementia in a Sardinian population. Journal of neurology. vol 262. issue 11. 2016-09-06. PMID:26275564. |
c9orf72 intermediate repeat expansion in patients affected by atypical parkinsonian syndromes or parkinson's disease complicated by psychosis or dementia in a sardinian population. |
2016-09-06 |
2023-08-13 |
human |
| Antonino Cannas, Paolo Solla, Giuseppe Borghero, Gian Luca Floris, Adriano Chio, Marcello Mario Mascia, Nicola Modugno, Antonella Muroni, Gianni Orofino, Francesca Di Stefano, Andrea Calvo, Cristina Moglia, Gabriella Restagno, Mario Meloni, Rita Farris, Daniela Ciaccio, Roberta Puddu, Melisa Iris Vacca, Rosanna Melis, Maria Rita Murru, Stefania Tranquilli, Daniela Corongiu, Marcella Rolesu, Stefania Cuccu, Maria Giovanna Marrosu, Francesco Marros. C9ORF72 intermediate repeat expansion in patients affected by atypical parkinsonian syndromes or Parkinson's disease complicated by psychosis or dementia in a Sardinian population. Journal of neurology. vol 262. issue 11. 2016-09-06. PMID:26275564. |
in our study, we aimed to screen patients affected by atypical parkinsonian syndromes or pd complicated by psychosis or dementia for the presence of c9orf72 repeat expansions, and in unrelated age- and sex-matched healthy controls. |
2016-09-06 |
2023-08-13 |
human |
| Antonino Cannas, Paolo Solla, Giuseppe Borghero, Gian Luca Floris, Adriano Chio, Marcello Mario Mascia, Nicola Modugno, Antonella Muroni, Gianni Orofino, Francesca Di Stefano, Andrea Calvo, Cristina Moglia, Gabriella Restagno, Mario Meloni, Rita Farris, Daniela Ciaccio, Roberta Puddu, Melisa Iris Vacca, Rosanna Melis, Maria Rita Murru, Stefania Tranquilli, Daniela Corongiu, Marcella Rolesu, Stefania Cuccu, Maria Giovanna Marrosu, Francesco Marros. C9ORF72 intermediate repeat expansion in patients affected by atypical parkinsonian syndromes or Parkinson's disease complicated by psychosis or dementia in a Sardinian population. Journal of neurology. vol 262. issue 11. 2016-09-06. PMID:26275564. |
our findings seem to support the hypothesis that the hexanucleotide expansions of c9orf72 gene with intermediate repetitions between 20 and 29 repetitions could be associated with typical pd with psychosis or dementia and atypical parkinsonisms with dementia (non-classical atypical parkinsonism with dementia ftd-like) or without dementia (non-classical atypical parkinsonism upper mnd-like), although the causal relationship is still unclear. |
2016-09-06 |
2023-08-13 |
human |
| Yu-Jen Chang, U-Ser Jeng, Ya-Ling Chiang, Ing-Shouh Hwang, Yun-Ru Che. The Glycine-Alanine Dipeptide Repeat from C9orf72 Hexanucleotide Expansions Forms Toxic Amyloids Possessing Cell-to-Cell Transmission Properties. The Journal of biological chemistry. vol 291. issue 10. 2016-08-03. PMID:26769963. |
hexanucleotide expansions, ggggcc, in the non-coding regions of the c9orf72 gene were found in major frontotemporal lobar dementia and amyotrophic lateral sclerosis patients (c9ftd/als). |
2016-08-03 |
2023-08-13 |
Not clear |
| Oriol Grau-Rivera, Ellen Gelpi, Eva Carballido-López, Raquel Sánchez-Valle, María Dolores López-Villega. Rapidly progressive dementia with psychotic onset in a patient with the C9ORF72 mutation. Clinical neuropathology. vol 34. issue 5. 2016-07-26. PMID:25943271. |
rapidly progressive dementia with psychotic onset in a patient with the c9orf72 mutation. |
2016-07-26 |
2023-08-13 |
Not clear |