| Publication |
Sentence |
Publish Date |
Extraction Date |
Species |
| N G Simon, W Huynh, S Vucic, K Talbot, M C Kierna. Motor neuron disease: current management and future prospects. Internal medicine journal. vol 45. issue 10. 2016-07-21. PMID:26429216. |
advances in genetics, including the recently discovered c9orf72 gene, have radically changed the pathological mindset, from mnd being classified as a neuromuscular disease to one that mnd forms a continuum with other primary neurodegenerative disorders, including frontotemporal dementia. |
2016-07-21 |
2023-08-13 |
Not clear |
| Chaitanya Bonda, Murali K Kolikonda, Martin E Brown, Steven Lippman. Amyotrophic Lateral Sclerosis with Frontotemporal Dementia in the Presence of C9orf72 Repeat Expansion-A Case Report. Innovations in clinical neuroscience. vol 13. issue 1-2. 2016-07-14. PMID:27413586. |
amyotrophic lateral sclerosis with frontotemporal dementia in the presence of c9orf72 repeat expansion-a case report. |
2016-07-14 |
2023-08-13 |
Not clear |
| Chaitanya Bonda, Murali K Kolikonda, Martin E Brown, Steven Lippman. Amyotrophic Lateral Sclerosis with Frontotemporal Dementia in the Presence of C9orf72 Repeat Expansion-A Case Report. Innovations in clinical neuroscience. vol 13. issue 1-2. 2016-07-14. PMID:27413586. |
we report a case of a patient with autosomal dominant amyotrophic lateral sclerosis and frontotemporal dementia (als-ftd) in the presence of c9orf72 repeat expansion. |
2016-07-14 |
2023-08-13 |
Not clear |
| Chaitanya Bonda, Murali K Kolikonda, Martin E Brown, Steven Lippman. Amyotrophic Lateral Sclerosis with Frontotemporal Dementia in the Presence of C9orf72 Repeat Expansion-A Case Report. Innovations in clinical neuroscience. vol 13. issue 1-2. 2016-07-14. PMID:27413586. |
we believe our case further supports the theory that the presence of c9orf72 repeat expansion in patients with a family history of amyotrophic lateral sclerosis and/or frontotemporal dementia significantly increases their risk of developing either or both diseases. |
2016-07-14 |
2023-08-13 |
Not clear |
| Hussein Daoud, Ronald B Postuma, Cynthia V Bourassa, Daniel Rochefort, Maude Turcotte Gauthier, Jacques Montplaisir, Jean-Francois Gagnon, Isabelle Arnulf, Yves Dauvilliers, Christelle Monaca Charley, Yuichi Inoue, Taeko Sasai, Birgit Högl, Alex Desautels, Birgit Frauscher, Valérie Cochen De Cock, Guy A Rouleau, Patrick A Dio. C9orf72 repeat expansions in rapid eye movement sleep behaviour disorder. The Canadian journal of neurological sciences. Le journal canadien des sciences neurologiques. vol 41. issue 6. 2016-07-06. PMID:25377888. |
a large hexanucleotide repeat expansion in c9orf72 has been identified as the most common genetic cause in familial amyotrophic lateral sclerosis and frontotemporal dementia. |
2016-07-06 |
2023-08-13 |
Not clear |
| Li Shu, Qiying Sun, Yuan Zhang, Qian Xu, Jifeng Guo, Xinxiang Yan, Beisha Tan. The Association between C9orf72 Repeats and Risk of Alzheimer's Disease and Amyotrophic Lateral Sclerosis: A Meta-Analysis. Parkinson's disease. vol 2016. 2016-07-04. PMID:27375918. |
c9orf72 is the most common genetic cause of amyotrophic lateral sclerosis (als) and frontotemporal dementia (ftd) in caucasian populations. |
2016-07-04 |
2023-08-13 |
Not clear |
| Sara Van Mossevelde, Julie van der Zee, Ilse Gijselinck, Sebastiaan Engelborghs, Anne Sieben, Tim Van Langenhove, Jan De Bleecker, Jonathan Baets, Mathieu Vandenbulcke, Koen Van Laere, Sarah Ceyssens, Marleen Van den Broeck, Karin Peeters, Maria Mattheijssens, Patrick Cras, Rik Vandenberghe, Peter De Jonghe, Jean-Jacques Martin, Peter P De Deyn, Marc Cruts, Christine Van Broeckhove. Clinical features of TBK1 carriers compared with C9orf72, GRN and non-mutation carriers in a Belgian cohort. Brain : a journal of neurology. vol 139. issue Pt 2. 2016-06-30. PMID:26674655. |
further, we compared genotype-phenotype data of tbk1 carriers with frontotemporal dementia (n = 7), with those of frontotemporal dementia patients with a c9orf72 repeat expansion (n = 65) or a grn mutation (n = 52) and with frontotemporal dementia patients (n = 259) negative for mutations in currently known causal genes. |
2016-06-30 |
2023-08-13 |
Not clear |
| Sara Van Mossevelde, Julie van der Zee, Ilse Gijselinck, Sebastiaan Engelborghs, Anne Sieben, Tim Van Langenhove, Jan De Bleecker, Jonathan Baets, Mathieu Vandenbulcke, Koen Van Laere, Sarah Ceyssens, Marleen Van den Broeck, Karin Peeters, Maria Mattheijssens, Patrick Cras, Rik Vandenberghe, Peter De Jonghe, Jean-Jacques Martin, Peter P De Deyn, Marc Cruts, Christine Van Broeckhove. Clinical features of TBK1 carriers compared with C9orf72, GRN and non-mutation carriers in a Belgian cohort. Brain : a journal of neurology. vol 139. issue Pt 2. 2016-06-30. PMID:26674655. |
tbk1 carriers with frontotemporal dementia had a later age at onset (63.3 years) than c9orf72 carriers (54.3 years) (p = 0.019). |
2016-06-30 |
2023-08-13 |
Not clear |
| Sara Van Mossevelde, Julie van der Zee, Ilse Gijselinck, Sebastiaan Engelborghs, Anne Sieben, Tim Van Langenhove, Jan De Bleecker, Jonathan Baets, Mathieu Vandenbulcke, Koen Van Laere, Sarah Ceyssens, Marleen Van den Broeck, Karin Peeters, Maria Mattheijssens, Patrick Cras, Rik Vandenberghe, Peter De Jonghe, Jean-Jacques Martin, Peter P De Deyn, Marc Cruts, Christine Van Broeckhove. Clinical features of TBK1 carriers compared with C9orf72, GRN and non-mutation carriers in a Belgian cohort. Brain : a journal of neurology. vol 139. issue Pt 2. 2016-06-30. PMID:26674655. |
after a negative result for c9orf72, patients with both frontotemporal dementia and amyotrophic lateral sclerosis should be tested first for mutations in tbk1. |
2016-06-30 |
2023-08-13 |
Not clear |
| Dejun Yang, Abbas Abdallah, Zhaodong Li, Yubing Lu, Sandra Almeida, Fen-Biao Ga. FTD/ALS-associated poly(GR) protein impairs the Notch pathway and is recruited by poly(GA) into cytoplasmic inclusions. Acta neuropathologica. vol 130. issue 4. 2016-06-28. PMID:26031661. |
c9orf72 repeat expansion is the most common genetic mutation in frontotemporal dementia (ftd) and amyotrophic lateral sclerosis (als). |
2016-06-28 |
2023-08-13 |
human |
| Martin H Schludi, Stephanie May, Friedrich A Grässer, Kristin Rentzsch, Elisabeth Kremmer, Clemens Küpper, Thomas Klopstock, Thomas Arzberger, Dieter Edbaue. Distribution of dipeptide repeat proteins in cellular models and C9orf72 mutation cases suggests link to transcriptional silencing. Acta neuropathologica. vol 130. issue 4. 2016-06-28. PMID:26085200. |
a massive expansion of a ggggcc repeat upstream of the c9orf72 coding region is the most common known cause of amyotrophic lateral sclerosis and frontotemporal dementia. |
2016-06-28 |
2023-08-13 |
rat |
| Tania F Gendron, Marka van Blitterswijk, Kevin F Bieniek, Lillian M Daughrity, Jie Jiang, Beth K Rush, Otto Pedraza, John A Lucas, Melissa E Murray, Pamela Desaro, Amelia Robertson, Karen Overstreet, Colleen S Thomas, Julia E Crook, Monica Castanedes-Casey, Linda Rousseau, Keith A Josephs, Joseph E Parisi, David S Knopman, Ronald C Petersen, Bradley F Boeve, Neill R Graff-Radford, Rosa Rademakers, Clotilde Lagier-Tourenne, Dieter Edbauer, Don W Cleveland, Dennis W Dickson, Leonard Petrucelli, Kevin B Boyla. Cerebellar c9RAN proteins associate with clinical and neuropathological characteristics of C9ORF72 repeat expansion carriers. Acta neuropathologica. vol 130. issue 4. 2016-06-28. PMID:26350237. |
clinical and neuropathological characteristics associated with g4c2 repeat expansions in chromosome 9 open reading frame 72 (c9orf72), the most common genetic cause of amyotrophic lateral sclerosis (als) and frontotemporal dementia, are highly variable. |
2016-06-28 |
2023-08-13 |
Not clear |
| Peter O Baue. Methylation of C9orf72 expansion reduces RNA foci formation and dipeptide-repeat proteins expression in cells. Neuroscience letters. vol 612. 2016-06-28. PMID:26690922. |
a hexanucleotide repeat expansion in the c9orf72 gene is the most common genetic cause of both frontotemporal dementia (ftd) and amyotrophic lateral sclerosis (als), together referred to as c9ftd/als. |
2016-06-28 |
2023-08-13 |
Not clear |
| Paulo Victor Sgobbi de Souza, Wladimir Bocca Vieira de Rezende Pinto, Marco Antônio Troccoli Chieia, Acary Souza Bulle Oliveir. Clinical and genetic basis of familial amyotrophic lateral sclerosis. Arquivos de neuro-psiquiatria. vol 73. issue 12. 2016-06-02. PMID:26465287. |
there is a direct correlation between the profile of the mutated genes in sporadic and familial forms, highlighting the main role of c9orf72 gene in the clinical forms associated with frontotemporal dementia spectrum. |
2016-06-02 |
2023-08-13 |
Not clear |
| Nancy Maizel. G4-associated human diseases. EMBO reports. vol 16. issue 8. 2016-05-12. PMID:26150098. |
an expandable ggggcc motif that can adopt a g4 structure, located in the previously obscure c9orf72 locus, has been shown to contribute to two well-recognized neurodegenerative diseases, amyotrophic lateral sclerosis (als) and frontotemporal dementia (ftd). |
2016-05-12 |
2023-08-13 |
human |
| Anjali N Patel, Jacinda B Sampso. Cognitive Profile of C9orf72 in Frontotemporal Dementia and Amyotrophic Lateral Sclerosis. Current neurology and neuroscience reports. vol 15. issue 9. 2016-05-12. PMID:26198888. |
cognitive profile of c9orf72 in frontotemporal dementia and amyotrophic lateral sclerosis. |
2016-05-12 |
2023-08-13 |
Not clear |
| Anjali N Patel, Jacinda B Sampso. Cognitive Profile of C9orf72 in Frontotemporal Dementia and Amyotrophic Lateral Sclerosis. Current neurology and neuroscience reports. vol 15. issue 9. 2016-05-12. PMID:26198888. |
this review article focuses on the cognitive profile associated with the c9orf72 gene with ggggcc (g4c2) hexanucleotide repeat expansions that is commonly found in both familial and sporadic forms of frontotemporal dementia (ftd) and amyotrophic lateral sclerosis (als) in order to aid clinicians in the screening process. |
2016-05-12 |
2023-08-13 |
Not clear |
| Eino Solje, Heidi Aaltokallio, Heli Koivumaa-Honkanen, Noora M Suhonen, Virpi Moilanen, Anna Kiviharju, Bryan Traynor, Pentti J Tienari, Päivi Hartikainen, Anne M Reme. The Phenotype of the C9ORF72 Expansion Carriers According to Revised Criteria for bvFTD. PloS one. vol 10. issue 7. 2016-04-19. PMID:26146826. |
the c9orf72 expansion is one of the most common genetic etiologies observed with behavioural variant frontotemporal dementia (bvftd). |
2016-04-19 |
2023-08-13 |
Not clear |
| J G O'Rourke, L Bogdanik, A Yáñez, D Lall, A J Wolf, A K M G Muhammad, R Ho, S Carmona, J P Vit, J Zarrow, K J Kim, S Bell, M B Harms, T M Miller, C A Dangler, D M Underhill, H S Goodridge, C M Lutz, R H Balo. C9orf72 is required for proper macrophage and microglial function in mice. Science (New York, N.Y.). vol 351. issue 6279. 2016-04-12. PMID:26989253. |
expansions of a hexanucleotide repeat (ggggcc) in the noncoding region of the c9orf72 gene are the most common genetic cause of amyotrophic lateral sclerosis (als) and frontotemporal dementia. |
2016-04-12 |
2023-08-13 |
mouse |
| Johnathan Cooper-Knock, Joanna J Bury, Paul R Heath, Matthew Wyles, Adrian Higginbottom, Catherine Gelsthorpe, J Robin Highley, Guillaume Hautbergue, Magnus Rattray, Janine Kirby, Pamela J Sha. C9ORF72 GGGGCC Expanded Repeats Produce Splicing Dysregulation which Correlates with Disease Severity in Amyotrophic Lateral Sclerosis. PloS one. vol 10. issue 5. 2016-04-04. PMID:26016851. |
an intronic ggggcc-repeat expansion of c9orf72 is the most common genetic variant of amyotrophic lateral sclerosis (als) and frontotemporal dementia. |
2016-04-04 |
2023-08-13 |
Not clear |