| Publication |
Sentence |
Publish Date |
Extraction Date |
Species |
| Annelies Quaegebeur, Idoia Glaria, Tammaryn Lashley, Adrian M Isaac. Soluble and insoluble dipeptide repeat protein measurements in C9orf72-frontotemporal dementia brains show regional differential solubility and correlation of poly-GR with clinical severity. Acta neuropathologica communications. vol 8. issue 1. 2021-11-10. PMID:33168090. |
a c9orf72 repeat expansion is the most common genetic cause of frontotemporal dementia (ftd) and amyotrophic lateral sclerosis. |
2021-11-10 |
2023-08-13 |
human |
| Karri Kaivola, Samuli J Salmi, Lilja Jansson, Jyrki Launes, Laura Hokkanen, Anna-Kaisa Niemi, Kari Majamaa, Jari Lahti, Johan G Eriksson, Timo Strandberg, Hannu Laaksovirta, Pentti J Tienar. Carriership of two copies of C9orf72 hexanucleotide repeat intermediate-length alleles is a risk factor for ALS in the Finnish population. Acta neuropathologica communications. vol 8. issue 1. 2021-11-09. PMID:33168078. |
the hexanucleotide repeat expansion in intron 1 of the c9orf72 gene causes amyotrophic lateral sclerosis (als) and frontotemporal dementia. |
2021-11-09 |
2023-08-13 |
Not clear |
| Julia Nörpel, Simone Cavadini, Andreas D Schenk, Alexandra Graff-Meyer, Daniel Hess, Jan Seebacher, Jeffrey A Chao, Varun Bhaska. Structure of the human C9orf72-SMCR8 complex reveals a multivalent protein interaction architecture. PLoS biology. vol 19. issue 7. 2021-11-08. PMID:34297726. |
a major cause of familial amyotrophic lateral sclerosis (als) and frontotemporal dementia (ftd) spectrum disorder is the hexanucleotide g4c2 repeat expansion in the first intron of the c9orf72 gene. |
2021-11-08 |
2023-08-13 |
human |
| Emma M Perkins, Karen Burr, Poulomi Banerjee, Arpan R Mehta, Owen Dando, Bhuvaneish T Selvaraj, Daumante Suminaite, Jyoti Nanda, Christopher M Henstridge, Thomas H Gillingwater, Giles E Hardingham, David J A Wyllie, Siddharthan Chandran, Matthew R Livese. Altered network properties in C9ORF72 repeat expansion cortical neurons are due to synaptic dysfunction. Molecular neurodegeneration. vol 16. issue 1. 2021-11-05. PMID:33663561. |
physiological disturbances in cortical network excitability and plasticity are established and widespread in amyotrophic lateral sclerosis (als) and frontotemporal dementia (ftd) patients, including those harbouring the c9orf72 repeat expansion (c9orf72 |
2021-11-05 |
2023-08-13 |
Not clear |
| M Rebecca Glineburg, Yuan Zhang, Amy Krans, Elizabeth M Tank, Sami J Barmada, Peter K Tod. Enhanced detection of expanded repeat mRNA foci with hybridization chain reaction. Acta neuropathologica communications. vol 9. issue 1. 2021-11-02. PMID:33892814. |
here we developed a repeat-specific form of hybridization chain reaction (r-hcr) as an alternative method for detection of repeat rna foci in two neurodegenerative disorders: c9orf72 associated als and frontotemporal dementia (c9 als/ftd) and fragile x-associated tremor/ataxia syndrome. |
2021-11-02 |
2023-08-13 |
Not clear |
| Guillaume M Hautbergue, John D Cleary, Shu Guo, Laura P W Ranu. Therapeutic strategies for C9orf72 amyotrophic lateral sclerosis and frontotemporal dementia. Current opinion in neurology. 2021-10-23. PMID:34392299. |
therapeutic strategies for c9orf72 amyotrophic lateral sclerosis and frontotemporal dementia. |
2021-10-23 |
2023-08-13 |
Not clear |
| Guillaume M Hautbergue, John D Cleary, Shu Guo, Laura P W Ranu. Therapeutic strategies for C9orf72 amyotrophic lateral sclerosis and frontotemporal dementia. Current opinion in neurology. 2021-10-23. PMID:34392299. |
an intronic g4c2 expansion mutation in c9orf72 is the most common genetic cause of amyotrophic lateral sclerosis and frontotemporal dementia (c9-als/ftd). |
2021-10-23 |
2023-08-13 |
Not clear |
| Fábio Carneiro, Dario Saracino, Vincent Huin, Fabienne Clot, Cécile Delorme, Aurélie Méneret, Stéphane Thobois, Florence Cormier, Jean Christophe Corvol, Timothée Lenglet, Marie Vidailhet, Marie-Odile Habert, Audrey Gabelle, Émilie Beaufils, Karl Mondon, Mélissa Tir, Daniela Andriuta, Alexis Brice, Vincent Deramecourt, Isabelle Le Be. Isolated parkinsonism is an atypical presentation of GRN and C9orf72 gene mutations. Parkinsonism & related disorders. vol 80. 2021-10-21. PMID:32961397. |
a phenotype of isolated parkinsonism mimicking idiopathic parkinson's disease (ipd) is a rare clinical presentation of grn and c9orf72 mutations, the major genetic causes of frontotemporal dementia (ftd). |
2021-10-21 |
2023-08-13 |
Not clear |
| Zachary T McEachin, Janani Parameswaran, Nisha Raj, Gary J Bassell, Jie Jian. RNA-mediated toxicity in C9orf72 ALS and FTD. Neurobiology of disease. vol 145. 2021-10-12. PMID:32829028. |
a ggggcc hexanucleotide repeat expansion in the first intron of c9orf72 is the most common genetic cause of amyotrophic lateral sclerosis and frontotemporal dementia. |
2021-10-12 |
2023-08-13 |
Not clear |
| Lianne M Reus, Iris E Jansen, Merel O Mol, Fred van Ruissen, Jeroen van Rooij, Natasja M van Schoor, Niccolò Tesi, Marcel J T Reinders, Martijn A Huisman, Henne Holstege, Pieter Jelle Visser, Sterre C M de Boer, Marc Hulsman, Shahzad Ahmad, Najaf Amin, Andre G Uitterlinden, Arfan Ikram, Cornelia M van Duijn, Harro Seelaar, Inez H G B Ramakers, Frans R J Verhey, Aad van der Lugt, Jurgen A H R Claassen, Geert Jan Biessels, Peter Paul De Deyn, Philip Scheltens, Wiesje M van der Flier, John C van Swieten, Yolande A L Pijnenburg, Sven J van der Le. Genome-wide association study of frontotemporal dementia identifies a C9ORF72 haplotype with a median of 12-G4C2 repeats that predisposes to pathological repeat expansions. Translational psychiatry. vol 11. issue 1. 2021-10-11. PMID:34475377. |
genome-wide association study of frontotemporal dementia identifies a c9orf72 haplotype with a median of 12-g4c2 repeats that predisposes to pathological repeat expansions. |
2021-10-11 |
2023-08-13 |
human |
| Esteban Quezada, Claudio Cappelli, Iván Diaz, Nur Jury, Nicholas Wightman, Robert H Brown, Martín Montecino, Brigitte van Zunder. BET bromodomain inhibitors PFI-1 and JQ1 are identified in an epigenetic compound screen to enhance C9ORF72 gene expression and shown to ameliorate C9ORF72-associated pathological and behavioral abnormalities in a C9ALS/FTD model. Clinical epigenetics. vol 13. issue 1. 2021-09-29. PMID:33726839. |
an intronic ggggcc (g4c2) hexanucleotide repeat expansion (hre) in the c9orf72 gene is the most common cause of amyotrophic lateral sclerosis (als) and frontotemporal dementia (ftd), referred to as c9als/ftd. |
2021-09-29 |
2023-08-13 |
mouse |
| Yan-Yan Xue, Zhi-Ying Wu, Hong-Fu L. Identification of pathogenic C9orf72 hexanucleotide repeat expansion in a Chinese patient with frontotemporal dementia: A case report. CNS neuroscience & therapeutics. vol 27. issue 6. 2021-09-29. PMID:33788382. |
identification of pathogenic c9orf72 hexanucleotide repeat expansion in a chinese patient with frontotemporal dementia: a case report. |
2021-09-29 |
2023-08-13 |
Not clear |
| Indranil Malik, Chase P Kelley, Eric T Wang, Peter K Tod. Molecular mechanisms underlying nucleotide repeat expansion disorders. Nature reviews. Molecular cell biology. vol 22. issue 9. 2021-09-28. PMID:34140671. |
expansion of a subset of these repeat tracts underlies over fifty human disorders, including common genetic causes of amyotrophic lateral sclerosis (als) and frontotemporal dementia (c9orf72), polyglutamine-associated ataxias and huntington disease, myotonic dystrophy, and intellectual disability disorders such as fragile x syndrome. |
2021-09-28 |
2023-08-13 |
human |
| Maria Serpente, Chiara Fenoglio, Andrea Arighi, Giorgio G Fumagalli, Marina Arcaro, Federica Sorrentino, Caterina Visconte, Elio Scarpini, Daniela Galimbert. Analysis of C9orf72 Intermediate Alleles in a Retrospective Cohort of Neurological Patients: Risk Factors for Alzheimer's Disease? Journal of Alzheimer's disease : JAD. vol 81. issue 4. 2021-09-20. PMID:33935096. |
c9orf72 hexanucleotide ggggcc (g4c2) large repeat expansions within the first intron of the gene are a major cause of familial frontotemporal dementia, but also of apparently sporadic cases. |
2021-09-20 |
2023-08-13 |
Not clear |
| Andrea López-Cáceres, María Velasco-Rueda, Elkin Garcia-Cifuentes, Ignacio Zarante, Diana Matallan. Analysis of Heritability Across the Clinical Phenotypes of Frontotemporal Dementia and the Frequency of the C9ORF72 in a Colombian Population. Frontiers in neurology. vol 12. 2021-09-17. PMID:34526954. |
analysis of heritability across the clinical phenotypes of frontotemporal dementia and the frequency of the c9orf72 in a colombian population. |
2021-09-17 |
2023-08-13 |
Not clear |
| Karteek Popuri, Mirza Faisal Beg, Hyunwoo Lee, Rakesh Balachandar, Lei Wang, Vesna Sossi, Claudia Jacova, Matt Baker, Elham Shahinfard, Rosa Rademakers, Ian R A Mackenzie, Ging-Yuek R Hsiun. FDG-PET in presymptomatic C9orf72 mutation carriers. NeuroImage. Clinical. vol 31. 2021-09-10. PMID:34049163. |
our aim is to investigate patterns of brain glucose metabolism using fluorodeoxyglucose positron emission tomography (fdg-pet) in presymptomatic carriers of the c9orf72 repeat expansion to better understand the early preclinical stages of frontotemporal dementia (ftd). |
2021-09-10 |
2023-08-13 |
Not clear |
| Maura Malpetti, Negin Holland, P Simon Jones, Rong Ye, Thomas E Cope, Tim D Fryer, Young T Hong, George Savulich, Timothy Rittman, Luca Passamonti, Elijah Mak, Franklin I Aigbirhio, John T O'Brien, James B Row. Synaptic density in carriers of C9orf72 mutations: a [ Annals of clinical and translational neurology. vol 8. issue 7. 2021-09-07. PMID:34133849. |
here we assess three adults at risk of frontotemporal dementia from c9orf72 mutation, using [ |
2021-09-07 |
2023-08-13 |
Not clear |
| Aleksandra Kaliszewska, Joseph Allison, Tarik-Tarkan Col, Christopher Shaw, Natalia Aria. Elucidating the Role of Cerebellar Synaptic Dysfunction in C9orf72-ALS/FTD - a Systematic Review and Meta-Analysis. Cerebellum (London, England). 2021-09-07. PMID:34491551. |
a hexanucleotide repeat expansion in the c9orf72 gene is the most common genetic cause of amyotrophic lateral sclerosis (als) and frontotemporal dementia (ftd) with synaptic dysfunction identified as an early pathological hallmark. |
2021-09-07 |
2023-08-13 |
human |
| Rebecca E Waugh, Laura E Danielian, Rachel F Smallwood Shoukry, Mary Kay Floete. Longitudinal changes in network homogeneity in presymptomatic C9orf72 mutation carriers. Neurobiology of aging. vol 99. 2021-09-01. PMID:33421737. |
the risk for carriers of repeat expansion mutations in c9orf72 to develop amyotrophic lateral sclerosis and frontotemporal dementia increases with age. |
2021-09-01 |
2023-08-13 |
Not clear |
| Hana M Odeh, James Shorte. Arginine-rich dipeptide-repeat proteins as phase disruptors in C9-ALS/FTD. Emerging topics in life sciences. vol 4. issue 3. 2021-08-30. PMID:32639008. |
a hexanucleotide repeat expansion ggggcc (g4c2) within chromosome 9 open reading frame 72 (c9orf72) is the most common genetic cause of amyotrophic lateral sclerosis and frontotemporal dementia (c9-als/ftd). |
2021-08-30 |
2023-08-13 |
Not clear |