| Publication |
Sentence |
Publish Date |
Extraction Date |
Species |
| Johnathan Cooper-Knock, Janine Kirby, Robin Highley, Pamela J Sha. The Spectrum of C9orf72-mediated Neurodegeneration and Amyotrophic Lateral Sclerosis. Neurotherapeutics : the journal of the American Society for Experimental NeuroTherapeutics. vol 12. issue 2. 2016-03-30. PMID:25731823. |
the discovery that a hexanucleotide repeat expansion in c9orf72 is the most numerous genetic variant of both amyotrophic lateral sclerosis and frontotemporal dementia has opened a rapidly growing field, which may provide long hoped for advances in the understanding and treatment of these devastating diseases. |
2016-03-30 |
2023-08-13 |
Not clear |
| Johnathan Cooper-Knock, Janine Kirby, Robin Highley, Pamela J Sha. The Spectrum of C9orf72-mediated Neurodegeneration and Amyotrophic Lateral Sclerosis. Neurotherapeutics : the journal of the American Society for Experimental NeuroTherapeutics. vol 12. issue 2. 2016-03-30. PMID:25731823. |
in this review we describe the various phenotypes, clinical and pathological, associated with expansion of c9orf72, which go beyond amyotrophic lateral sclerosis and frontotemporal dementia to include neurodegeneration more broadly. |
2016-03-30 |
2023-08-13 |
Not clear |
| Bita Zamiri, Mila Mirceta, Karol Bomsztyk, Robert B Macgregor, Christopher E Pearso. Quadruplex formation by both G-rich and C-rich DNA strands of the C9orf72 (GGGGCC)8•(GGCCCC)8 repeat: effect of CpG methylation. Nucleic acids research. vol 43. issue 20. 2016-03-29. PMID:26432832. |
unusual dna/rna structures of the c9orf72 repeat may participate in repeat expansions or pathogenesis of amyotrophic lateral sclerosis and frontotemporal dementia. |
2016-03-29 |
2023-08-13 |
Not clear |
| Rebecca L Bond, Laura E Downey, Philip S J Weston, Catherine F Slattery, Camilla N Clark, Kirsty Macpherson, Catherine J Mummery, Jason D Warre. Processing of Self versus Non-Self in Alzheimer's Disease. Frontiers in human neuroscience. vol 10. 2016-03-25. PMID:27014028. |
our findings suggest that ad may be associated with deficient self/non-self differentiation over time despite a relatively intact body image: this profile of altered self-processing contrasts with the deficit of tactile body schema previously described in frontotemporal dementia associated with c9orf72 mutations. |
2016-03-25 |
2023-08-13 |
Not clear |
| Johnathan Cooper-Knock, Adrian Higginbottom, Matthew J Stopford, J Robin Highley, Paul G Ince, Stephen B Wharton, Stuart Pickering-Brown, Janine Kirby, Guillaume M Hautbergue, Pamela J Sha. Antisense RNA foci in the motor neurons of C9ORF72-ALS patients are associated with TDP-43 proteinopathy. Acta neuropathologica. vol 130. issue 1. 2016-03-22. PMID:25943887. |
ggggcc repeat expansions of c9orf72 represent the most common genetic variant of amyotrophic lateral sclerosis (als) and frontotemporal dementia. |
2016-03-22 |
2023-08-13 |
Not clear |
| Carla Gramaglia, Roberto Cantello, Emanuela Terazzi, Miryam Carecchio, Sandra D'Alfonso, Nunzia Chieppa, Francesca Ressico, Maria Cristina Rizza, Patrizia Zeppegn. Early onset frontotemporal dementia with psychiatric presentation due to the C9ORF72 hexanucleotide repeat expansion: a case report. BMC neurology. vol 14. 2016-03-21. PMID:25433797. |
early onset frontotemporal dementia with psychiatric presentation due to the c9orf72 hexanucleotide repeat expansion: a case report. |
2016-03-21 |
2023-08-13 |
Not clear |
| Jacqueline G O'Rourke, Laurent Bogdanik, A K M G Muhammad, Tania F Gendron, Kevin J Kim, Andrew Austin, Janet Cady, Elaine Y Liu, Jonah Zarrow, Sharday Grant, Ritchie Ho, Shaughn Bell, Sharon Carmona, Megan Simpkinson, Deepti Lall, Kathryn Wu, Lillian Daughrity, Dennis W Dickson, Matthew B Harms, Leonard Petrucelli, Edward B Lee, Cathleen M Lutz, Robert H Balo. C9orf72 BAC Transgenic Mice Display Typical Pathologic Features of ALS/FTD. Neuron. vol 88. issue 5. 2016-03-21. PMID:26637796. |
noncoding expansions of a hexanucleotide repeat (ggggcc) in the c9orf72 gene are the most common cause of familial amyotrophic lateral sclerosis and frontotemporal dementia. |
2016-03-21 |
2023-08-13 |
mouse |
| Owen M Peters, Gabriela Toro Cabrera, Helene Tran, Tania F Gendron, Jeanne E McKeon, Jake Metterville, Alexandra Weiss, Nicholas Wightman, Johnny Salameh, Juyhun Kim, Huaming Sun, Kevin B Boylan, Dennis Dickson, Zack Kennedy, Ziqiang Lin, Yong-Jie Zhang, Lillian Daughrity, Chris Jung, Fen-Biao Gao, Peter C Sapp, H Robert Horvitz, Daryl A Bosco, Solange P Brown, Pieter de Jong, Leonard Petrucelli, Chris Mueller, Robert H Brow. Human C9ORF72 Hexanucleotide Expansion Reproduces RNA Foci and Dipeptide Repeat Proteins but Not Neurodegeneration in BAC Transgenic Mice. Neuron. vol 88. issue 5. 2016-03-21. PMID:26637797. |
a non-coding hexanucleotide repeat expansion in the c9orf72 gene is the most common mutation associated with familial amyotrophic lateral sclerosis (als) and frontotemporal dementia (ftd). |
2016-03-21 |
2023-08-13 |
mouse |
| Ryan Griffin Thys, Yuh-Hwa Wan. DNA Replication Dynamics of the GGGGCC Repeat of the C9orf72 Gene. The Journal of biological chemistry. vol 290. issue 48. 2016-03-18. PMID:26463209. |
expansion of a ggggcc repeat located at c9orf72 is associated with familial amyotrophic lateral sclerosis and frontotemporal dementia. |
2016-03-18 |
2023-08-13 |
human |
| Shunichiro Shinagawa, Georges Naasan, Anna M Karydas, Giovanni Coppola, Mochtar Pribadi, William W Seeley, John Q Trojanowski, Bruce L Miller, Lea T Grinber. Clinicopathological Study of Patients With C9ORF72-Associated Frontotemporal Dementia Presenting With Delusions. Journal of geriatric psychiatry and neurology. vol 28. issue 2. 2016-03-03. PMID:25342578. |
several clinical studies point to a high prevalence of psychotic symptoms in frontotemporal dementia associated with c9orf72 mutations, but clinicopathological studies addressing the association between c9orf72 mutations and delusions are lacking. |
2016-03-03 |
2023-08-13 |
Not clear |
| Angelica Nordin, Chizuru Akimoto, Anna Wuolikainen, Helena Alstermark, Pär Jonsson, Anna Birve, Stefan L Marklund, Karin S Graffmo, Karin Forsberg, Thomas Brännström, Peter M Anderse. Extensive size variability of the GGGGCC expansion in C9orf72 in both neuronal and non-neuronal tissues in 18 patients with ALS or FTD. Human molecular genetics. vol 24. issue 11. 2016-02-16. PMID:25712133. |
a ggggcc-repeat expansion in c9orf72 is the most common genetic cause of amyotrophic lateral sclerosis (als) and frontotemporal dementia (ftd) among caucasians. |
2016-02-16 |
2023-08-13 |
Not clear |
| Emma Devenney, Steve Vucic, John R Hodges, Matthew C Kierna. Motor neuron disease-frontotemporal dementia: a clinical continuum. Expert review of neurotherapeutics. vol 15. issue 5. 2016-02-12. PMID:25865485. |
overlap between motor neuron disease (mnd) and frontotemporal dementia (ftd) occurs at clinical, genetic and pathological levels, and has been recently strengthened through the discovery of the c9orf72 genetic expansion. |
2016-02-12 |
2023-08-13 |
Not clear |
| Phillip D Fletcher, Laura E Downey, Hannah L Golden, Camilla N Clark, Catherine F Slattery, Ross W Paterson, Jonathan D Rohrer, Jonathan M Schott, Martin N Rossor, Jason D Warre. Pain and temperature processing in dementia: a clinical and neuroanatomical analysis. Brain : a journal of neurology. vol 138. issue Pt 11. 2016-02-09. PMID:26463677. |
certain syndromic signatures were identified: pain and temperature symptoms were particularly prevalent in behavioural variant frontotemporal dementia (71% of cases) and semantic dementia (65% of cases) and in association with c9orf72 mutations (6/6 cases), but also developed in alzheimer's disease (45% of cases) and progressive non-fluent aphasia (25% of cases). |
2016-02-09 |
2023-08-13 |
Not clear |
| Yuta Yoshino, Yoko Mori, Shinichiro Ochi, Shusuke Numata, Takashi Ishimaru, Kiyohiro Yamazaki, Tetsuro Ohmori, Shu-ichi Uen. No abnormal hexanucleotide repeat expansion of C9ORF72 in Japanese schizophrenia patients. Journal of neural transmission (Vienna, Austria : 1996). vol 122. issue 5. 2016-01-13. PMID:25115936. |
abnormal hexanucleotide repeat expansion of c9orf72 is known to cause neurodegenerative disorders such as frontotemporal dementia. |
2016-01-13 |
2023-08-13 |
Not clear |
| Jasna Brčić, Janez Plave. Solution structure of a DNA quadruplex containing ALS and FTD related GGGGCC repeat stabilized by 8-bromodeoxyguanosine substitution. Nucleic acids research. vol 43. issue 17. 2016-01-11. PMID:26253741. |
a prolonged expansion of ggggcc repeat within non-coding region of c9orf72 gene has been identified as the most common cause of familial amyotrophic lateral sclerosis (als) and frontotemporal dementia (ftd), which are devastating neurodegenerative disorders. |
2016-01-11 |
2023-08-13 |
Not clear |
| E Devenney, D Foxe, C Dobson-Stone, J B Kwok, M C Kiernan, J R Hodge. Clinical heterogeneity of the C9orf72 genetic mutation in frontotemporal dementia. Neurocase. vol 21. issue 4. 2016-01-07. PMID:25138488. |
clinical heterogeneity of the c9orf72 genetic mutation in frontotemporal dementia. |
2016-01-07 |
2023-08-13 |
Not clear |
| E Devenney, D Foxe, C Dobson-Stone, J B Kwok, M C Kiernan, J R Hodge. Clinical heterogeneity of the C9orf72 genetic mutation in frontotemporal dementia. Neurocase. vol 21. issue 4. 2016-01-07. PMID:25138488. |
the c9orf72 genetic mutation represents the most common cause of familial frontotemporal dementia (ftd) and amyotrophic lateral sclerosis (als). |
2016-01-07 |
2023-08-13 |
Not clear |
| Zhouteng Tao, Hongfeng Wang, Qin Xia, Ke Li, Kai Li, Xiaogang Jiang, Guoqiang Xu, Guanghui Wang, Zheng Yin. Nucleolar stress and impaired stress granule formation contribute to C9orf72 RAN translation-induced cytotoxicity. Human molecular genetics. vol 24. issue 9. 2015-12-22. PMID:25575510. |
amyotrophic lateral sclerosis (als) and frontotemporal dementia (ftd) are the two common neurodegenerative diseases that have been associated with the ggggcc·ggcccc repeat rna expansion in a noncoding region of c9orf72. |
2015-12-22 |
2023-08-13 |
Not clear |
| Gianluca Floris, Giuseppe Borghero, Antonino Cannas, Francesca Di Stefano, Elisa Ruiu, Maria R Murru, Daniela Corongiu, Stefania Cuccu, Stefania Tranquilli, Claudia Sardu, Maria G Marrosu, Adriano Chiò, Francesco Marros. Constructional apraxia in frontotemporal dementia associated with the C9orf72 mutation: broadening the clinical and neuropsychological phenotype. Amyotrophic lateral sclerosis & frontotemporal degeneration. vol 16. issue 1-2. 2015-12-15. PMID:25285776. |
constructional apraxia in frontotemporal dementia associated with the c9orf72 mutation: broadening the clinical and neuropsychological phenotype. |
2015-12-15 |
2023-08-13 |
Not clear |
| Gianluca Floris, Giuseppe Borghero, Antonino Cannas, Francesca Di Stefano, Elisa Ruiu, Maria R Murru, Daniela Corongiu, Stefania Cuccu, Stefania Tranquilli, Claudia Sardu, Maria G Marrosu, Adriano Chiò, Francesco Marros. Constructional apraxia in frontotemporal dementia associated with the C9orf72 mutation: broadening the clinical and neuropsychological phenotype. Amyotrophic lateral sclerosis & frontotemporal degeneration. vol 16. issue 1-2. 2015-12-15. PMID:25285776. |
in our cohort we found that constructional apraxia, rarely reported in ftd, can properly discriminate between c9orf72 mutated and non-mutated patients and contribute to broaden the neuropsychological profile in frontotemporal dementia associated with this mutation. |
2015-12-15 |
2023-08-13 |
Not clear |