| Publication |
Sentence |
Publish Date |
Extraction Date |
Species |
| Nimeshan Geevasinga, Parvathi Menon, P Hande Özdinler, Matthew C Kiernan, Steve Vuci. Pathophysiological and diagnostic implications of cortical dysfunction in ALS. Nature reviews. Neurology. vol 12. issue 11. 2018-08-13. PMID:27658852. |
the recent identification of c9orf72 repeat expansion as an important genetic risk factor for both als and frontotemporal dementia has underscored the importance of cortical function in als pathogenesis, and has helped to confirm that the disease forms part of a spectrum of central neurodegenerative processes. |
2018-08-13 |
2023-08-13 |
Not clear |
| Sali M K Farhan, Tania F Gendron, Leonard Petrucelli, Robert A Hegele, Michael J Stron. OPTN p.Met468Arg and ATXN2 intermediate length polyQ extension in families with C9orf72 mediated amyotrophic lateral sclerosis and frontotemporal dementia. American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics. vol 177. issue 1. 2018-08-06. PMID:29080331. |
optn p.met468arg and atxn2 intermediate length polyq extension in families with c9orf72 mediated amyotrophic lateral sclerosis and frontotemporal dementia. |
2018-08-06 |
2023-08-13 |
Not clear |
| Sali M K Farhan, Tania F Gendron, Leonard Petrucelli, Robert A Hegele, Michael J Stron. OPTN p.Met468Arg and ATXN2 intermediate length polyQ extension in families with C9orf72 mediated amyotrophic lateral sclerosis and frontotemporal dementia. American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics. vol 177. issue 1. 2018-08-06. PMID:29080331. |
we have ascertained two families affected with familial amyotrophic lateral sclerosis (als) in which they both carry a hexanucleotide repeat expansion in the c9orf72 gene, specifically in individuals who also presented with frontotemporal dementia (ftd) or behavioral variant ftd (bvftd). |
2018-08-06 |
2023-08-13 |
Not clear |
| Mario Meloni, Rita Farris, Paolo Solla, Marcello M Mascia, Francesco Marrosu, Antonino Canna. C9ORF72 Intermediate Repeat Expansion in a Patient With Psychiatric Disorders and Progressive Cerebellar Ataxia. The neurologist. vol 22. issue 6. 2018-07-24. PMID:29095328. |
large expansions of the noncoding ggggcc repeat (more than 30) in the first intron of the c9orf72 gene have been demonstrated to cause amyotrophic lateral sclerosis and frontotemporal dementia. |
2018-07-24 |
2023-08-13 |
Not clear |
| Paige Rudich, Carley Snoznik, Simon C Watkins, John Monaghan, Udai Bhan Pandey, S Todd Lamitin. Nuclear localized C9orf72-associated arginine-containing dipeptides exhibit age-dependent toxicity in C. elegans. Human molecular genetics. vol 26. issue 24. 2018-07-20. PMID:29036691. |
a hexanucleotide repeat expansion mutation in the c9orf72 gene represents a prevalent genetic cause of several neurodegenerative diseases, including amyotrophic lateral sclerosis (als) and frontotemporal dementia. |
2018-07-20 |
2023-08-13 |
caenorhabditis_elegans |
| Marta M Fay, Paul J Anderson, Pavel Ivano. ALS/FTD-Associated C9ORF72 Repeat RNA Promotes Phase Transitions In Vitro and in Cells. Cell reports. vol 21. issue 12. 2018-07-20. PMID:29262335. |
expansion of hexanucleotide ggggcc (g4c2) repeats in the first intron of c9orf72 is the most common genetic cause of amyotrophic lateral sclerosis and frontotemporal dementia (c9-als/ftd). |
2018-07-20 |
2023-08-13 |
Not clear |
| Ming Zhang, Maria Carmela Tartaglia, Danielle Moreno, Christine Sato, Paul McKeever, Anna Weichert, Julia Keith, Janice Robertson, Lorne Zinman, Ekaterina Rogaev. DNA methylation age-acceleration is associated with disease duration and age at onset in C9orf72 patients. Acta neuropathologica. vol 134. issue 2. 2018-05-31. PMID:28439722. |
the repeat expansion in c9orf72 is the most common cause of amyotrophic lateral sclerosis and frontotemporal dementia. |
2018-05-31 |
2023-08-13 |
Not clear |
| Mariely DeJesus-Hernandez, NiCole A Finch, Xue Wang, Tania F Gendron, Kevin F Bieniek, Michael G Heckman, Aliaksei Vasilevich, Melissa E Murray, Linda Rousseau, Rachael Weesner, Anthony Lucido, Meeia Parsons, Jeannie Chew, Keith A Josephs, Joseph E Parisi, David S Knopman, Ronald C Petersen, Bradley F Boeve, Neill R Graff-Radford, Jan de Boer, Yan W Asmann, Leonard Petrucelli, Kevin B Boylan, Dennis W Dickson, Marka van Blitterswijk, Rosa Rademaker. In-depth clinico-pathological examination of RNA foci in a large cohort of C9ORF72 expansion carriers. Acta neuropathologica. vol 134. issue 2. 2018-05-31. PMID:28508101. |
a growing body of evidence suggests that a loss of chromosome 9 open reading frame 72 (c9orf72) expression, formation of dipeptide-repeat proteins, and generation of rna foci contribute to disease pathogenesis in amyotrophic lateral sclerosis and frontotemporal dementia. |
2018-05-31 |
2023-08-13 |
Not clear |
| Xiang-Qian Che, Qian-Hua Zhao, Yue Huang, Xia Li, Ru-Jing Ren, Sheng-Di Chen, Gang Wang, Qi-Hao Gu. Genetic Features of MAPT, GRN, C9orf72 and CHCHD10 Gene Mutations in Chinese Patients with Frontotemporal Dementia. Current Alzheimer research. vol 14. issue 10. 2018-05-29. PMID:28462717. |
genetic features of mapt, grn, c9orf72 and chchd10 gene mutations in chinese patients with frontotemporal dementia. |
2018-05-29 |
2023-08-13 |
Not clear |
| Xiang-Qian Che, Qian-Hua Zhao, Yue Huang, Xia Li, Ru-Jing Ren, Sheng-Di Chen, Gang Wang, Qi-Hao Gu. Genetic Features of MAPT, GRN, C9orf72 and CHCHD10 Gene Mutations in Chinese Patients with Frontotemporal Dementia. Current Alzheimer research. vol 14. issue 10. 2018-05-29. PMID:28462717. |
mutations in microtubule associated protein tau (mapt), progranulin (grn), chromosome 9 open-reading frame 72 (c9orf72) and chchd10 genes have been reported causing frontotemporal dementia (ftd) in different populations. |
2018-05-29 |
2023-08-13 |
Not clear |
| Yon Ju Ji, Janet Ugolino, Nathan Ryan Brady, Anne Hamacher-Brady, Jiou Wan. Systemic deregulation of autophagy upon loss of ALS- and FTD-linked C9orf72. Autophagy. vol 13. issue 7. 2018-05-25. PMID:28319438. |
a genetic mutation in the c9orf72 gene causes the most common forms of neurodegenerative diseases amyotrophic lateral sclerosis (als) and frontotemporal dementia (ftd). |
2018-05-25 |
2023-08-13 |
mouse |
| Adeline S L Ng, Eng-King Ta. Intermediate C9orf72 alleles in neurological disorders: does size really matter? Journal of medical genetics. vol 54. issue 9. 2018-04-30. PMID:28689190. |
c9orf72 repeat expansions is a major cause of familial frontotemporal dementia (ftd) and amyotrophic lateral sclerosis (als) worldwide. |
2018-04-30 |
2023-08-13 |
human |
| Shanye Yin, Rodrigo Lopez-Gonzalez, Ryan C Kunz, Jaya Gangopadhyay, Carl Borufka, Steven P Gygi, Fen-Biao Gao, Robin Ree. Evidence that C9ORF72 Dipeptide Repeat Proteins Associate with U2 snRNP to Cause Mis-splicing in ALS/FTD Patients. Cell reports. vol 19. issue 11. 2018-04-16. PMID:28614712. |
hexanucleotide repeat expansion in the c9orf72 gene results in production of dipeptide repeat (dpr) proteins that may disrupt pre-mrna splicing in amyotrophic lateral sclerosis (als) and frontotemporal dementia (ftd) patients. |
2018-04-16 |
2023-08-13 |
Not clear |
| Maria Sara Cipolat Mis, Simona Brajkovic, Francesco Tafuri, Nereo Bresolin, Giacomo P Comi, Stefania Cort. Development of Therapeutics for C9ORF72 ALS/FTD-Related Disorders. Molecular neurobiology. vol 54. issue 6. 2018-04-09. PMID:27349438. |
the identification of the hexanucleotide repeat expansion (hre) ggggcc (g4c2) in the non-coding region of the c9orf72 gene as the most frequent genetic cause of both amyotrophic lateral sclerosis (als) and frontotemporal dementia (ftd) has opened the path for advances in the knowledge and treatment of these disorders, which remain incurable. |
2018-04-09 |
2023-08-13 |
Not clear |
| Maria Pia Giannoccaro, Anna Bartoletti-Stella, Silvia Piras, Annalisa Pession, Patrizia De Massis, Federico Oppi, Michelangelo Stanzani-Maserati, Elena Pasini, Simone Baiardi, Patrizia Avoni, Piero Parchi, Rocco Liguori, Sabina Capellar. Multiple variants in families with amyotrophic lateral sclerosis and frontotemporal dementia related to C9orf72 repeat expansion: further observations on their oligogenic nature. Journal of neurology. vol 264. issue 7. 2018-04-04. PMID:28620717. |
multiple variants in families with amyotrophic lateral sclerosis and frontotemporal dementia related to c9orf72 repeat expansion: further observations on their oligogenic nature. |
2018-04-04 |
2023-08-13 |
human |
| Maria Pia Giannoccaro, Anna Bartoletti-Stella, Silvia Piras, Annalisa Pession, Patrizia De Massis, Federico Oppi, Michelangelo Stanzani-Maserati, Elena Pasini, Simone Baiardi, Patrizia Avoni, Piero Parchi, Rocco Liguori, Sabina Capellar. Multiple variants in families with amyotrophic lateral sclerosis and frontotemporal dementia related to C9orf72 repeat expansion: further observations on their oligogenic nature. Journal of neurology. vol 264. issue 7. 2018-04-04. PMID:28620717. |
the c9orf72 repeat expansion (re) is one of the most frequent causative mutations of amyotrophic lateral sclerosis (als) and frontotemporal dementia (ftd). |
2018-04-04 |
2023-08-13 |
human |
| Simon Ducharme, Sepideh Bajestan, Bradford C Dickerson, Valerie Voo. Psychiatric Presentations of C9orf72 Mutation: What Are the Diagnostic Implications for Clinicians? The Journal of neuropsychiatry and clinical neurosciences. vol 29. issue 3. 2018-04-02. PMID:28238272. |
the c9orf72 mutation was identified as the most frequent genetic cause of frontotemporal dementia (ftd). |
2018-04-02 |
2023-08-13 |
Not clear |
| Yue Yang, Glenda M Halliday, John R Hodges, Rachel H Ta. von Economo Neuron Density and Thalamus Volumes in Behavioral Deficits in Frontotemporal Dementia Cases with and without a C9ORF72 Repeat Expansion. Journal of Alzheimer's disease : JAD. vol 58. issue 3. 2018-03-21. PMID:28482638. |
von economo neuron density and thalamus volumes in behavioral deficits in frontotemporal dementia cases with and without a c9orf72 repeat expansion. |
2018-03-21 |
2023-08-13 |
Not clear |
| Noora-Maria Suhonen, Ramona M Haanpää, Ville Korhonen, Jari Jokelainen, Anni Pitkäniemi, Anna-Leena Heikkinen, Johanna Krüger, Päivi Hartikainen, Seppo Helisalmi, Mikko Hiltunen, Tuomo Hänninen, Anne M Reme. Neuropsychological Profile in the C9ORF72 Associated Behavioral Variant Frontotemporal Dementia. Journal of Alzheimer's disease : JAD. vol 58. issue 2. 2018-03-16. PMID:28453474. |
neuropsychological profile in the c9orf72 associated behavioral variant frontotemporal dementia. |
2018-03-16 |
2023-08-13 |
Not clear |
| Noora-Maria Suhonen, Ramona M Haanpää, Ville Korhonen, Jari Jokelainen, Anni Pitkäniemi, Anna-Leena Heikkinen, Johanna Krüger, Päivi Hartikainen, Seppo Helisalmi, Mikko Hiltunen, Tuomo Hänninen, Anne M Reme. Neuropsychological Profile in the C9ORF72 Associated Behavioral Variant Frontotemporal Dementia. Journal of Alzheimer's disease : JAD. vol 58. issue 2. 2018-03-16. PMID:28453474. |
while the c9orf72 expansion is a major cause of behavioral variant frontotemporal dementia (bvftd), little is known of the resultant cognitive profile. |
2018-03-16 |
2023-08-13 |
Not clear |