| Publication |
Sentence |
Publish Date |
Extraction Date |
Species |
| J L Whitwell, B F Boeve, S D Weigand, M L Senjem, J L Gunter, M C Baker, M DeJesus-Hernandez, D S Knopman, Z K Wszolek, R C Petersen, R Rademakers, C R Jack, K A Joseph. Brain atrophy over time in genetic and sporadic frontotemporal dementia: a study of 198 serial magnetic resonance images. European journal of neurology. vol 22. issue 5. 2015-12-03. PMID:25683866. |
the aim of our study was to determine the utility of longitudinal magnetic resonance imaging (mri) measurements as potential biomarkers in the main genetic variants of frontotemporal dementia (ftd), including microtubule-associated protein tau (mapt) and progranulin (grn) mutations and c9orf72 repeat expansions, as well as sporadic ftd. |
2015-12-03 |
2023-08-13 |
Not clear |
| Jiou Wang, Aaron R Haeusler, Eric A J Simk. Emerging role of RNA•DNA hybrids in C9orf72-linked neurodegeneration. Cell cycle (Georgetown, Tex.). vol 14. issue 4. 2015-12-01. PMID:25590632. |
a guanine-rich hexanucleotide repeat expansion in chromosome 9 open reading frame 72 (c9orf72) has been linked to a spectrum of neurological conditions including amyotrophic lateral sclerosis (als) and frontotemporal dementia (ftd). |
2015-12-01 |
2023-08-13 |
Not clear |
| Mai Yamakawa, Daisuke Ito, Takao Honda, Ken-ichiro Kubo, Mariko Noda, Kazunori Nakajima, Norihiro Suzuk. Characterization of the dipeptide repeat protein in the molecular pathogenesis of c9FTD/ALS. Human molecular genetics. vol 24. issue 6. 2015-11-23. PMID:25398948. |
the expansion of the ggggcc hexanucleotide repeat in the non-coding region of the chromosome 9 open-reading frame 72 (c9orf72) gene is the most common cause of frontotemporal dementia (ftd) and amyotrophic lateral sclerosis (als) (c9ftd/als). |
2015-11-23 |
2023-08-13 |
Not clear |
| Ana Jovičić, Jerome Mertens, Steven Boeynaems, Elke Bogaert, Noori Chai, Shizuka B Yamada, Joseph W Paul, Shuying Sun, Joseph R Herdy, Gregor Bieri, Nicholas J Kramer, Fred H Gage, Ludo Van Den Bosch, Wim Robberecht, Aaron D Gitle. Modifiers of C9orf72 dipeptide repeat toxicity connect nucleocytoplasmic transport defects to FTD/ALS. Nature neuroscience. vol 18. issue 9. 2015-11-16. PMID:26308983. |
c9orf72 mutations are the most common cause of amyotrophic lateral sclerosis (als) and frontotemporal dementia (ftd). |
2015-11-16 |
2023-08-13 |
Not clear |
| Rachel H Tan, Emma Devenney, Carol Dobson-Stone, John B Kwok, John R Hodges, Matthew C Kiernan, Glenda M Halliday, Michael Hornberge. Cerebellar integrity in the amyotrophic lateral sclerosis-frontotemporal dementia continuum. PloS one. vol 9. issue 8. 2015-11-10. PMID:25144223. |
seventy-eight patients diagnosed with als, als-bvftd, behavioural variant frontotemporal dementia (bvftd), most without c9orf72 gene abnormalities, and healthy controls were investigated. |
2015-11-10 |
2023-08-13 |
human |
| Eoin P Flanagan, Matthew C Baker, Ralph B Perkerson, Joseph R Duffy, Edythe A Strand, Jennifer L Whitwell, Mary M Machulda, Rosa Rademakers, Keith A Joseph. Dominant frontotemporal dementia mutations in 140 cases of primary progressive aphasia and speech apraxia. Dementia and geriatric cognitive disorders. vol 39. issue 5-6. 2015-10-22. PMID:25765123. |
mutations in three genes [chromosome 9 open-reading-frame 72 (c9orf72); microtubule-associated protein tau (mapt) and progranulin (grn)] account for the vast majority of familial, and a proportion of sporadic, frontotemporal dementia (ftd) cases. |
2015-10-22 |
2023-08-13 |
Not clear |
| Ke Zhang, Christopher J Donnelly, Aaron R Haeusler, Jonathan C Grima, James B Machamer, Peter Steinwald, Elizabeth L Daley, Sean J Miller, Kathleen M Cunningham, Svetlana Vidensky, Saksham Gupta, Michael A Thomas, Ingie Hong, Shu-Ling Chiu, Richard L Huganir, Lyle W Ostrow, Michael J Matunis, Jiou Wang, Rita Sattler, Thomas E Lloyd, Jeffrey D Rothstei. The C9orf72 repeat expansion disrupts nucleocytoplasmic transport. Nature. vol 525. issue 7567. 2015-10-01. PMID:26308891. |
the hexanucleotide repeat expansion (hre) ggggcc (g4c2) in c9orf72 is the most common cause of amyotrophic lateral sclerosis (als) and frontotemporal dementia (ftd). |
2015-10-01 |
2023-08-13 |
human |
| Brian D Freibaum, Yubing Lu, Rodrigo Lopez-Gonzalez, Nam Chul Kim, Sandra Almeida, Kyung-Ha Lee, Nisha Badders, Marc Valentine, Bruce L Miller, Philip C Wong, Leonard Petrucelli, Hong Joo Kim, Fen-Biao Gao, J Paul Taylo. GGGGCC repeat expansion in C9orf72 compromises nucleocytoplasmic transport. Nature. vol 525. issue 7567. 2015-10-01. PMID:26308899. |
the ggggcc (g4c2) repeat expansion in a noncoding region of c9orf72 is the most common cause of sporadic and familial forms of amyotrophic lateral sclerosis and frontotemporal dementia. |
2015-10-01 |
2023-08-13 |
drosophila_melanogaster |
| Pietro Fratta, James M Polke, Jia Newcombe, Sarah Mizielinska, Tammaryn Lashley, Mark Poulter, Jon Beck, Elisavet Preza, Anny Devoy, Katie Sidle, Robin Howard, Andrea Malaspina, Richard W Orrell, Jan Clarke, Ching-Hua Lu, Kin Mok, Toby Collins, Maryam Shoaii, Tina Nanji, Selina Wray, Gary Adamson, Alan Pittman, Alan E Renton, Bryan J Traynor, Mary G Sweeney, Tamas Revesz, Henry Houlden, Simon Mead, Adrian M Isaacs, Elizabeth M C Fishe. Screening a UK amyotrophic lateral sclerosis cohort provides evidence of multiple origins of the C9orf72 expansion. Neurobiology of aging. vol 36. issue 1. 2015-09-21. PMID:25179228. |
an expanded hexanucleotide repeat in the c9orf72 gene is the most common genetic cause of amyotrophic lateral sclerosis and frontotemporal dementia (c9als/ftd). |
2015-09-21 |
2023-08-13 |
Not clear |
| Georgios Koutsis, Georgia Karadima, Chrisoula Kartanou, Athina Kladi, Marios Pana. C9ORF72 hexanucleotide repeat expansions are a frequent cause of Huntington disease phenocopies in the Greek population. Neurobiology of aging. vol 36. issue 1. 2015-09-21. PMID:25248608. |
an expanded hexanucleotide repeat in c9orf72 has been identified as the most common genetic cause of amyotrophic lateral sclerosis and/or frontotemporal dementia in many populations, including the greek. |
2015-09-21 |
2023-08-13 |
Not clear |
| Lucia V Schottlaender, James M Polke, Helen Ling, Nicola D MacDoanld, Arianna Tucci, Tina Nanji, Alan Pittman, Rohan de Silva, Janice L Holton, Tamas Revesz, Mary G Sweeney, Andy B Singleton, Andrew J Lees, Kailash P Bhatia, Henry Houlde. Analysis of C9orf72 repeat expansions in a large series of clinically and pathologically diagnosed cases with atypical parkinsonism. Neurobiology of aging. vol 36. issue 2. 2015-09-21. PMID:25308964. |
a ggggcc repeat expansion in the c9orf72 gene was recently identified as a major cause of familial and sporadic amyotrophic lateral sclerosis and frontotemporal dementia. |
2015-09-21 |
2023-08-13 |
Not clear |
| Maria Serpente, Chiara Fenoglio, Sara M G Cioffi, Rossana Bonsi, Andrea Arighi, Giorgio G Fumagalli, Laura Ghezzi, Elio Scarpini, Daniela Galimbert. Profiling of ubiquitination pathway genes in peripheral cells from patients with frontotemporal dementia due to C9ORF72 and GRN mutations. International journal of molecular sciences. vol 16. issue 1. 2015-09-14. PMID:25580532. |
profiling of ubiquitination pathway genes in peripheral cells from patients with frontotemporal dementia due to c9orf72 and grn mutations. |
2015-09-14 |
2023-08-13 |
Not clear |
| Maria Serpente, Chiara Fenoglio, Sara M G Cioffi, Rossana Bonsi, Andrea Arighi, Giorgio G Fumagalli, Laura Ghezzi, Elio Scarpini, Daniela Galimbert. Profiling of ubiquitination pathway genes in peripheral cells from patients with frontotemporal dementia due to C9ORF72 and GRN mutations. International journal of molecular sciences. vol 16. issue 1. 2015-09-14. PMID:25580532. |
we analysed the expression levels of 84 key genes involved in the regulated degradation of cellular protein by the ubiquitin-proteasome system in peripheral cells from patients with frontotemporal dementia (ftd) due to c9orf72 and grn mutations, as compared with sporadic ftd and age-matched controls. |
2015-09-14 |
2023-08-13 |
Not clear |
| Silvia Testi, Stefano Tamburin, Giampietro Zanette, Gian Maria Fabriz. Co-occurrence of the C9ORF72 expansion and a novel GRN mutation in a family with alternative expression of frontotemporal dementia and amyotrophic lateral sclerosis. Journal of Alzheimer's disease : JAD. vol 44. issue 1. 2015-09-10. PMID:25182743. |
co-occurrence of the c9orf72 expansion and a novel grn mutation in a family with alternative expression of frontotemporal dementia and amyotrophic lateral sclerosis. |
2015-09-10 |
2023-08-13 |
Not clear |
| Silvia Testi, Stefano Tamburin, Giampietro Zanette, Gian Maria Fabriz. Co-occurrence of the C9ORF72 expansion and a novel GRN mutation in a family with alternative expression of frontotemporal dementia and amyotrophic lateral sclerosis. Journal of Alzheimer's disease : JAD. vol 44. issue 1. 2015-09-10. PMID:25182743. |
in the reported pedigree, the 47-year old proband, presenting a four-year history of frontotemporal dementia, carried the c9orf72 expansion plus a novel grn p.cys246x mutation. |
2015-09-10 |
2023-08-13 |
Not clear |
| Cheng-Tsung Hsiao, Pei-Chien Tsai, Yi-Chu Liao, Yi-Chung Lee, Bing-Wen Soon. C9ORF72 repeat expansion is not a significant cause of late onset cerebellar ataxia syndrome. Journal of the neurological sciences. vol 347. issue 1-2. 2015-08-31. PMID:25467142. |
the ggggcc hexanucleotide expansion in the c9orf72 gene is the most common cause of familial amyotrophic lateral sclerosis (als) and frontotemporal dementia (ftd) in caucasian populations. |
2015-08-31 |
2023-08-13 |
Not clear |
| Roberto Simone, Pietro Fratta, Stephen Neidle, Gary N Parkinson, Adrian M Isaac. G-quadruplexes: Emerging roles in neurodegenerative diseases and the non-coding transcriptome. FEBS letters. vol 589. issue 14. 2015-08-13. PMID:25979174. |
here we will review the evidence for the occurrence of g-quadruplexes both in vitro and in vivo; their role in neurological diseases including g-quadruplex-forming repeat expansions in the c9orf72 gene in frontotemporal dementia and amyotrophic lateral sclerosis and loss of the g-quadruplex binding protein fmrp in the intellectual disability fragile x syndrome. |
2015-08-13 |
2023-08-13 |
human |
| Yingying Luo, Bin Jiao, Junling Wang, Juan Du, Xinxiang Yan, Kun Xia, Beisha Tang, Lu She. C9orf72 hexanucleotide repeat expansion analysis in Chinese spastic paraplegia patients. Journal of the neurological sciences. vol 347. issue 1-2. 2015-08-06. PMID:25284081. |
recently, a hexanucleotide repeat expansion in the c9orf72 gene has been identified to cause frontotemporal dementia, amyotrophic lateral sclerosis families and many other neurodegenerative diseases. |
2015-08-06 |
2023-08-13 |
Not clear |
| Yingying Luo, Bin Jiao, Junling Wang, Juan Du, Xinxiang Yan, Kun Xia, Beisha Tang, Lu She. C9orf72 hexanucleotide repeat expansion analysis in Chinese spastic paraplegia patients. Journal of the neurological sciences. vol 347. issue 1-2. 2015-08-06. PMID:25284081. |
owing to the overlapping phenotypes among hsp, frontotemporal dementia and amyotrophic lateral sclerosis we hypothesized that c9orf72 expansions might be a genetic risk factor or modifier of hsp. |
2015-08-06 |
2023-08-13 |
Not clear |
| Paulo Victor Sgobbi de Souza, Wladimir Bocca Vieira de Rezende Pinto, Acary Souza Bulle Oliveir. C9orf72-related disorders: expanding the clinical and genetic spectrum of neurodegenerative diseases. Arquivos de neuro-psiquiatria. vol 73. issue 3. 2015-07-21. PMID:25807132. |
in the last decade, much knowledge has been acumulated about the genetics of neurodegenerative diseases, making it essential in cases of motor neuron disease and frontotemporal dementia the repeat expansions of c9orf72 gene. |
2015-07-21 |
2023-08-13 |
Not clear |