| Publication |
Sentence |
Publish Date |
Extraction Date |
Species |
| Henri J M M Mutsaerts, Saira S Mirza, Jan Petr, David L Thomas, David M Cash, Martina Bocchetta, Enrico de Vita, Arron W S Metcalfe, Zahra Shirzadi, Andrew D Robertson, Maria Carmela Tartaglia, Sara B Mitchell, Sandra E Black, Morris Freedman, David Tang-Wai, Ron Keren, Ekaterina Rogaeva, John van Swieten, Robert Laforce, Fabrizio Tagliavini, Barbara Borroni, Daniela Galimberti, James B Rowe, Caroline Graff, Giovanni B Frisoni, Elizabeth Finger, Sandro Sorbi, Alexandre de Mendonça, Jonathan D Rohrer, Bradley J MacIntosh, Mario Maselli. Cerebral perfusion changes in presymptomatic genetic frontotemporal dementia: a GENFI study. Brain : a journal of neurology. vol 142. issue 4. 2019-12-10. PMID:30847466. |
in the multicentre genetic frontotemporal dementia initiative (genfi) study, we investigated cross-sectional differences in arterial spin labelling mri-based cerebral blood flow between presymptomatic c9orf72, grn or mapt mutation carriers (n = 107) and non-carriers (n = 113), using general linear mixed-effects models and voxel-based analyses. |
2019-12-10 |
2023-08-13 |
Not clear |
| Estrella Gómez-Tortosa, Yalda Baradaran-Heravi, Valentina González Alvarez, María José Sainz, Cristina Prieto-Jurczynska, Rosa Guerrero-López, Pablo Agüero Rabes, Christine Van Broeckhoven, Julie van der Zee, Alberto Rábano Gutiérre. Presence of tau astrogliopathy in frontotemporal dementia caused by a novel Grn nonsense (Trp2*) mutation. Neurobiology of aging. vol 76. 2019-12-06. PMID:30545478. |
presence of tau astrogliopathy in frontotemporal dementia caused by a novel grn nonsense (trp2*) mutation. |
2019-12-06 |
2023-08-13 |
Not clear |
| Jessica L Panman, Lize C Jiskoot, Mark J R J Bouts, Lieke H H Meeter, Emma L van der Ende, Jackie M Poos, Rogier A Feis, Anneke J A Kievit, Rick van Minkelen, Elise G P Dopper, Serge A R B Rombouts, John C van Swieten, Janne M Papm. Gray and white matter changes in presymptomatic genetic frontotemporal dementia: a longitudinal MRI study. Neurobiology of aging. vol 76. 2019-12-06. PMID:30711674. |
in genetic frontotemporal dementia, cross-sectional studies have identified profiles of presymptomatic neuroanatomical loss for c9orf72 repeat expansion, mapt, and grn mutations. |
2019-12-06 |
2023-08-13 |
Not clear |
| Ione O C Woollacott, Martina Bocchetta, Carole H Sudre, Basil H Ridha, Catherine Strand, Robert Courtney, Sebastien Ourselin, M Jorge Cardoso, Jason D Warren, Martin N Rossor, Tamas Revesz, Nick C Fox, Janice L Holton, Tammaryn Lashley, Jonathan D Rohre. Pathological correlates of white matter hyperintensities in a case of progranulin mutation associated frontotemporal dementia. Neurocase. vol 24. issue 3. 2019-09-11. PMID:30112957. |
white matter hyperintensities (wmh) are often seen on mri brain scans in frontotemporal dementia (ftd) due to progranulin (grn) mutations, but their pathological correlates are unknown. |
2019-09-11 |
2023-08-13 |
Not clear |
| Tsz Hang Wong, Cyril Pottier, David C Hondius, Lieke H H Meeter, Jeroen G J van Rooij, Shami Melhem, Rick van Minkelen, Cornelia M van Duijn, Annemieke J M Rozemuller, Harro Seelaar, Rosa Rademakers, John C van Swiete. Three VCP Mutations in Patients with Frontotemporal Dementia. Journal of Alzheimer's disease : JAD. vol 65. issue 4. 2019-08-26. PMID:30103325. |
we screened a cohort of 48 patients with familial frontotemporal dementia (ftd) negative for mapt, grn, and c9orf72 mutations for other known ftd genes by using whole exome sequencing. |
2019-08-26 |
2023-08-13 |
Not clear |
| Lize C Jiskoot, Jessica L Panman, Lieke H Meeter, Elise G P Dopper, Laura Donker Kaat, Sanne Franzen, Emma L van der Ende, Rick van Minkelen, Serge A R B Rombouts, Janne M Papma, John C van Swiete. Longitudinal multimodal MRI as prognostic and diagnostic biomarker in presymptomatic familial frontotemporal dementia. Brain : a journal of neurology. vol 142. issue 1. 2019-08-20. PMID:30508042. |
in the longitudinal frontotemporal dementia risk cohort, presymptomatic mutation carriers and non-carriers from families with familial frontotemporal dementia due to microtubule-associated protein tau (mapt) and progranulin (grn) mutations underwent a clinical assessment and multimodal mri at baseline, 2-, and 4-year follow-up. |
2019-08-20 |
2023-08-13 |
human |
| Lize C Jiskoot, Jessica L Panman, Lieke H Meeter, Elise G P Dopper, Laura Donker Kaat, Sanne Franzen, Emma L van der Ende, Rick van Minkelen, Serge A R B Rombouts, Janne M Papma, John C van Swiete. Longitudinal multimodal MRI as prognostic and diagnostic biomarker in presymptomatic familial frontotemporal dementia. Brain : a journal of neurology. vol 142. issue 1. 2019-08-20. PMID:30508042. |
of the cohort of 73 participants, eight mutation carriers (three grn, five mapt) developed clinical features of frontotemporal dementia ('converters'). |
2019-08-20 |
2023-08-13 |
human |
| Leila Sellami, Martina Bocchetta, Mario Masellis, David M Cash, Katrina M Dick, John van Swieten, Barbara Borroni, Daniela Galimberti, Maria Carmela Tartaglia, James B Rowe, Caroline Graff, Fabrizio Tagliavini, Giovanni Frisoni, Elizabeth Finger, Alexandre de Mendonça, Sandro Sorbi, Jason D Warren, Jonathan D Rohrer, Robert Laforc. Distinct Neuroanatomical Correlates of Neuropsychiatric Symptoms in the Three Main Forms of Genetic Frontotemporal Dementia in the GENFI Cohort. Journal of Alzheimer's disease : JAD. vol 65. issue 1. 2019-07-29. PMID:30010122. |
the overlap between frontotemporal dementia (ftd) and primary psychiatric disorders has been brought to light by reports of prominent neuropsychiatric symptoms (nps) in ftd-related genetic mutations, particularly among c9orf72 and grn carriers. |
2019-07-29 |
2023-08-13 |
Not clear |
| Herve Rhinn, Asa Abeliovic. Differential Aging Analysis in Human Cerebral Cortex Identifies Variants in TMEM106B and GRN that Regulate Aging Phenotypes. Cell systems. vol 4. issue 4. 2019-07-26. PMID:28330615. |
we subsequently performed a genome-wide association study and identified the tmem106b and grn gene loci, previously associated with frontotemporal dementia, as determinants of Δ-aging in the cerebral cortex with genome-wide significance. |
2019-07-26 |
2023-08-13 |
human |
| Kuo-Hsuan Chang, Guan-Chiun Lee, Chin-Chang Huang, Hung-Chou Kuo, Chiung-Mei Chen, Ya-Chin Hsiao, Hsuan-Chu Hsu, Ke-Jen Hsu, Chih-Hsin Lin, Chia Wen Chang, Guey-Jen Lee-Chen, Yih-Ru W. Genetic and functional characters of GRN p.T487I mutation in Taiwanese patients with atypical parkinsonian disorders. Parkinsonism & related disorders. vol 51. 2019-06-21. PMID:29530724. |
mutations in the grn (granulin precursor) are a frequent cause of frontotemporal dementia (ftd) and other atypical parkinsonian disorders. |
2019-06-21 |
2023-08-13 |
Not clear |
| Andrew Bateman, Siu Tim Cheung, Hugh P J Bennet. A Brief Overview of Progranulin in Health and Disease. Methods in molecular biology (Clifton, N.J.). vol 1806. 2019-03-04. PMID:29956265. |
progranulin has received attention due to its role in neurodegeneration, where mutation of a single copy of grn, the gene encoding progranulin, results in frontotemporal dementia, whereas viral delivery of progranulin to the brains of mice exhibiting parkinson's or alzheimer's disease phenotypes inhibits the progression of the neurodegenerative phenotypes. |
2019-03-04 |
2023-08-13 |
mouse |
| Courtney Alexander, Dagmar Zeithamova, Ging-Yuek R Hsiung, Ian R Mackenzie, Claudia Jacov. Decreased Prefrontal Activation during Matrix Reasoning in Predementia Progranulin Mutation Carriers. Journal of Alzheimer's disease : JAD. vol 62. issue 2. 2019-02-08. PMID:29480174. |
five grn mutation carriers free of frontotemporal dementia (ftd) and 11 non-carriers from families with ftd-grn underwent functional mri while solving matrix-reasoning problems. |
2019-02-08 |
2023-08-13 |
Not clear |
| Daniela Galimberti, Chiara Fenoglio, Elio Scarpin. Progranulin as a therapeutic target for dementia. Expert opinion on therapeutic targets. vol 22. issue 7. 2019-02-07. PMID:29889573. |
in 2006, mutations in progranulin gene (grn) that cause haploinsufficiency were found in familial cases of frontotemporal dementia (ftd). |
2019-02-07 |
2023-08-13 |
Not clear |
| Roberta Zanardini, Luisa Benussi, Silvia Fostinelli, Claudia Saraceno, Miriam Ciani, Barbara Borroni, Alessandro Padovani, Giuliano Binetti, Roberta Ghidon. Serum C-Peptide, Visfatin, Resistin, and Ghrelin are Altered in Sporadic and GRN-Associated Frontotemporal Lobar Degeneration. Journal of Alzheimer's disease : JAD. vol 61. issue 3. 2019-01-17. PMID:29226876. |
null mutations in progranulin gene (grn) are one of the most frequent genetic determinants in familial frontotemporal dementia. |
2019-01-17 |
2023-08-13 |
human |
| Andrew E Arrant, Alexandra M Nicholson, Xiaolai Zhou, Rosa Rademakers, Erik D Roberso. Partial Tmem106b reduction does not correct abnormalities due to progranulin haploinsufficiency. Molecular neurodegeneration. vol 13. issue 1. 2018-11-09. PMID:29929528. |
loss of function mutations in progranulin (grn) are a major cause of frontotemporal dementia (ftd). |
2018-11-09 |
2023-08-13 |
Not clear |
| Eline Wauters, Sara Van Mossevelde, Kristel Sleegers, Julie van der Zee, Sebastiaan Engelborghs, Anne Sieben, Rik Vandenberghe, Stéphanie Philtjens, Marleen Van den Broeck, Karin Peeters, Ivy Cuijt, Wouter De Coster, Tim Van Langenhove, Patrick Santens, Adrian Ivanoiu, Patrick Cras, Jan L De Bleecker, Jan Versijpt, Roeland Crols, Nina De Klippel, Jean-Jacques Martin, Peter P De Deyn, Marc Cruts, Christine Van Broeckhove. Clinical variability and onset age modifiers in an extended Belgian GRN founder family. Neurobiology of aging. vol 67. 2018-10-04. PMID:29653316. |
we previously reported a granulin (grn) null mutation, originating from a common founder, in multiple belgian families with frontotemporal dementia. |
2018-10-04 |
2023-08-13 |
Not clear |
| Daniela Galimberti, Giorgio G Fumagalli, Chiara Fenoglio, Sara M G Cioffi, Andrea Arighi, Maria Serpente, Barbara Borroni, Alessandro Padovani, Fabrizio Tagliavini, Mario Masellis, Maria Carmela Tartaglia, John van Swieten, Lieke Meeter, Caroline Graff, Alexandre de Mendonça, Martina Bocchetta, Jonathan D Rohrer, Elio Scarpin. Progranulin plasma levels predict the presence of GRN mutations in asymptomatic subjects and do not correlate with brain atrophy: results from the GENFI study. Neurobiology of aging. vol 62. 2018-09-26. PMID:29146050. |
we investigated whether progranulin plasma levels are predictors of the presence of progranulin gene (grn) null mutations or of the development of symptoms in asymptomatic at risk members participating in the genetic frontotemporal dementia initiative, including 19 patients, 64 asymptomatic carriers, and 77 noncarriers. |
2018-09-26 |
2023-08-13 |
human |
| Alexandra M Nicholson, NiCole A Finch, Marcio Almeida, Ralph B Perkerson, Marka van Blitterswijk, Aleksandra Wojtas, Basar Cenik, Sergio Rotondo, Venette Inskeep, Laura Almasy, Thomas Dyer, Juan Peralta, Goo Jun, Andrew R Wood, Timothy M Frayling, Christian Fuchsberger, Sharon Fowler, Tanya M Teslovich, Alisa K Manning, Satish Kumar, Joanne Curran, Donna Lehman, Goncalo Abecasis, Ravindranath Duggirala, Cyril Pottier, Haaris A Zahir, Julia E Crook, Anna Karydas, Laura Mitic, Ying Sun, Dennis W Dickson, Guojun Bu, Joachim Herz, Gang Yu, Bruce L Miller, Shawn Ferguson, Ronald C Petersen, Neill Graff-Radford, John Blangero, Rosa Rademaker. Prosaposin is a regulator of progranulin levels and oligomerization. Nature communications. vol 7. 2018-09-11. PMID:27356620. |
progranulin (grn) loss-of-function mutations leading to progranulin protein (pgrn) haploinsufficiency are prevalent genetic causes of frontotemporal dementia. |
2018-09-11 |
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 |