| Publication |
Sentence |
Publish Date |
Extraction Date |
Species |
| Gorana Mandic-Stojmenovic, Elka Stefanova, Valerija Dobricic, Ivana Novakovic, Tanja Stojkovic, Aleksandar Jesic, Vladimir Kosti. Screening for C9orf72 Expansion Mutation in Serbian Patients with Early-Onset Dementia. Dementia and geriatric cognitive disorders. vol 40. issue 5-6. 2016-04-18. PMID:26401819. |
screening for c9orf72 expansion mutation in serbian patients with early-onset dementia. |
2016-04-18 |
2023-08-13 |
Not clear |
| I Le Be. Frontotemporal lobar dementia and amyotrophic lateral sclerosis associated with c9orf72 expansion. Revue neurologique. vol 171. issue 6-7. 2016-03-14. PMID:26032484. |
frontotemporal lobar dementia and amyotrophic lateral sclerosis associated with c9orf72 expansion. |
2016-03-14 |
2023-08-13 |
Not clear |
| I Le Be. Frontotemporal lobar dementia and amyotrophic lateral sclerosis associated with c9orf72 expansion. Revue neurologique. vol 171. issue 6-7. 2016-03-14. PMID:26032484. |
an intronic ggggcc repeat expansion in c9orf72 gene has been identified as the most common genetic cause of frontotemporal lobar dementia (ftld), amyotrophic lateral sclerosis (als) and ftld-als. |
2016-03-14 |
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 |
| 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. |
this report describes two contrasting c9orf72 cases, one with a protracted indolent course dominated by neuropsychiatric features and the other with a rapidly progressive dementia. |
2016-01-07 |
2023-08-13 |
Not clear |
| Conrad C Weihl, Robert H Baloh, Youjin Lee, Tsui-Fen Chou, Sara K Pittman, Glenn Lopate, Peggy Allred, Jennifer Jockel-Balsarotti, Alan Pestronk, Matthew B Harm. Targeted sequencing and identification of genetic variants in sporadic inclusion body myositis. Neuromuscular disorders : NMD. vol 25. issue 4. 2015-12-07. PMID:25617006. |
in this study, dna from 79 patients with sibm was collected and the sequencing of 38 genes associated with hereditary inclusion body myopathy (ibm), myofibrillar myopathy, emery-dreifuss muscular dystrophy, distal myopathy, amyotrophic lateral sclerosis and dementia along with c9orf72 hexanucleotide repeat analysis was performed. |
2015-12-07 |
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 phenotypic spectrum of c9orf72 hexanucleotide repeat expansion mutation has been reported to include parkinsonian syndrome, huntington's disease-like syndrome and dementia syndrome. |
2015-08-31 |
2023-08-13 |
Not clear |
| Hiroyuki Tomiyam. [C9orf72 in Japanese amyotrophic lateral sclerosis (ALS)]. Rinsho shinkeigaku = Clinical neurology. vol 53. issue 11. 2015-08-17. PMID:24291883. |
recently, c9orf72 hexanucleotide (ggggcc) repeat expansion in intron 1 was reported to be the most common cause of sporadic and familial amyotrophic lateral sclerosis (als)/frontotemporal dementia (ftd) in the caucasian population. |
2015-08-17 |
2023-08-12 |
human |
| Hiroyuki Tomiyam. [C9orf72 in Japanese amyotrophic lateral sclerosis (ALS)]. Rinsho shinkeigaku = Clinical neurology. vol 53. issue 11. 2015-08-17. PMID:24291883. |
all patients with the repeat expansion had a common risk haplotype within a narrower region than the finnish one, suggesting a common founder effect which spread from europe to east asia in human migration history.although japanese als patients with the c9orf72 repeat expansion were rarer than caucasian patients, we should check family histories of other neurological disorders such as dementia and ftd and should do genetic testing more actively even in sporadic als patients. |
2015-08-17 |
2023-08-12 |
human |
| John Douglas Cleary, Laura P W Ranu. Repeat associated non-ATG (RAN) translation: new starts in microsatellite expansion disorders. Current opinion in genetics & development. vol 26. 2015-07-24. PMID:24852074. |
ran proteins have been reported in a growing number of diseases, including spinocerebellar ataxia type 8 (sca8), myotonic dystrophy type 1 (dm1), fragile-x tremor ataxia syndrome (fxtas), and c9orf72 amyotrophic lateral sclerosis (als)/frontotemporal dementia (ftd). |
2015-07-24 |
2023-08-13 |
human |
| Giulietta Riboldi, Chiara Zanetta, Michela Ranieri, Monica Nizzardo, Chiara Simone, Francesca Magri, Nereo Bresolin, Giacomo P Comi, Stefania Cort. Antisense oligonucleotide therapy for the treatment of C9ORF72 ALS/FTD diseases. Molecular neurobiology. vol 50. issue 3. 2015-07-08. PMID:24809691. |
here, we summarize the recent findings that support the idea that the buildup of "toxic" rna containing the ggggcc repeat contributes to the death of motor neurons in als and also suggest that the use of antisense oligonucleotides targeting this transcript is a promising strategy for treating als/frontotemporal lobe dementia (ftld) patients with the c9orf72 repeat expansion. |
2015-07-08 |
2023-08-13 |
Not clear |
| Michael G Kearse, Peter K Tod. Repeat-associated non-AUG translation and its impact in neurodegenerative disease. Neurotherapeutics : the journal of the American Society for Experimental NeuroTherapeutics. vol 11. issue 4. 2015-07-06. PMID:25005000. |
to date, ran translation has been implicated in 4 nucleotide repeat expansion disorders: spinocerebellar ataxia type 8; myotonic dystrophy type 1 with ctg•cag repeats; c9orf72 amyotrophic lateral sclerosis/frontotemporal dementia with ggggcc•ggcccc repeats; and fragile x-associated tremor/ataxia syndrome with cgg repeats. |
2015-07-06 |
2023-08-13 |
human |
| Olga Pletnikova, Kelly L Sloane, Alan E Renton, Bryan J Traynor, Barbara J Crain, Tammy Reid, Tao Zu, Laura P W Ranum, Juan C Troncoso, Peter V Rabins, Chiadi U Onyik. Hippocampal sclerosis dementia with the C9ORF72 hexanucleotide repeat expansion. Neurobiology of aging. vol 35. issue 10. 2015-02-09. PMID:24819148. |
hippocampal sclerosis dementia with the c9orf72 hexanucleotide repeat expansion. |
2015-02-09 |
2023-08-13 |
Not clear |
| Olga Pletnikova, Kelly L Sloane, Alan E Renton, Bryan J Traynor, Barbara J Crain, Tammy Reid, Tao Zu, Laura P W Ranum, Juan C Troncoso, Peter V Rabins, Chiadi U Onyik. Hippocampal sclerosis dementia with the C9ORF72 hexanucleotide repeat expansion. Neurobiology of aging. vol 35. issue 10. 2015-02-09. PMID:24819148. |
this study describes hippocampal sclerosis dementia (hsd) in carriers of the c9orf72 mutation. |
2015-02-09 |
2023-08-13 |
Not clear |
| Andrew Robinson, Yvonne Davidson, Julie S Snowden, David M A Man. C9ORF72 in dementia with Lewy bodies. Journal of neurology, neurosurgery, and psychiatry. vol 85. issue 12. 2015-02-06. PMID:24648039. |
c9orf72 in dementia with lewy bodies. |
2015-02-06 |
2023-08-12 |
Not clear |
| Malcolm Proudfoot, Nick J Gutowski, Dieter Edbauer, David A Hilton, Mark Stephens, Julia Rankin, Ian R A Mackenzi. Early dipeptide repeat pathology in a frontotemporal dementia kindred with C9ORF72 mutation and intellectual disability. Acta neuropathologica. vol 127. issue 3. 2014-10-20. PMID:24445903. |
we report detection of the dpr aggregates very early in c9orf72 ftd development and also describe childhood intellectual disability as a clinical feature preceding dementia. |
2014-10-20 |
2023-08-12 |
Not clear |
| Johnathan Cooper-Knock, Pamela J Shaw, Janine Kirb. The widening spectrum of C9ORF72-related disease; genotype/phenotype correlations and potential modifiers of clinical phenotype. Acta neuropathologica. vol 127. issue 3. 2014-10-20. PMID:24493408. |
the ggggcc (g4c2) repeat expansion in c9orf72 is the most common cause of familial amyotrophic lateral sclerosis (als), frontotemporal lobar dementia (ftld) and als-ftld, as well as contributing to sporadic forms of these diseases. |
2014-10-20 |
2023-08-12 |
Not clear |
| Melissa E Murray, Kevin F Bieniek, M Banks Greenberg, Mariely DeJesus-Hernandez, Nicola J Rutherford, Marka van Blitterswijk, Ellis Niemantsverdriet, Peter E Ash, Tania F Gendron, Naomi Kouri, Matt Baker, Ira J Goodman, Leonard Petrucelli, Rosa Rademakers, Dennis W Dickso. Progressive amnestic dementia, hippocampal sclerosis, and mutation in C9ORF72. Acta neuropathologica. vol 126. issue 4. 2014-10-13. PMID:23922030. |
the findings in this patient suggest that the clinical and pathologic spectrum of c9orf72 repeat expansion is wider than frontotemporal dementia and motor neuron disease, including cases of progressive amnestic dementia with restricted tdp-43 pathology associated with hpscl. |
2014-10-13 |
2023-08-12 |
Not clear |
| Jun-Ichi Satoh, Yoji Yamamoto, Shouta Kitano, Mika Takitani, Naohiro Asahina, Yoshihiro Kin. Molecular network analysis suggests a logical hypothesis for the pathological role of c9orf72 in amyotrophic lateral sclerosis/frontotemporal dementia. Journal of central nervous system disease. vol 6. 2014-09-11. PMID:25210488. |
molecular network analysis suggests a logical hypothesis for the pathological role of c9orf72 in amyotrophic lateral sclerosis/frontotemporal dementia. |
2014-09-11 |
2023-08-13 |
Not clear |
| Colin J Mahoney, Laura E Downey, Gerard R Ridgway, Jon Beck, Shona Clegg, Melanie Blair, Sarah Finnegan, Kelvin K Leung, Tom Yeatman, Hannah Golden, Simon Mead, Jonathan D Rohrer, Nick C Fox, Jason D Warre. Longitudinal neuroimaging and neuropsychological profiles of frontotemporal dementia with C9ORF72 expansions. Alzheimer's research & therapy. vol 4. issue 5. 2014-05-20. PMID:23006986. |
frontotemporal dementia (ftd) is a common cause of early-onset dementia with a significant genetic component, as underlined by the recent identification of repeat expansions in the gene c9orf72 as a major cause of ftd and motor neuron disease. |
2014-05-20 |
2023-08-12 |
Not clear |