| Publication |
Sentence |
Publish Date |
Extraction Date |
Species |
| Carlo Wilke, Frank Gillardon, Christian Deuschle, Markus A Hobert, Iris E Jansen, Florian G Metzger, Peter Heutink, Thomas Gasser, Walter Maetzler, Cornelis Blauwendraat, Matthis Synofzi. Cerebrospinal Fluid Progranulin, but Not Serum Progranulin, Is Reduced in GRN-Negative Frontotemporal Dementia. Neuro-degenerative diseases. vol 17. issue 2-3. 2017-09-13. PMID:27760429. |
reduced progranulin levels are a hallmark of frontotemporal dementia (ftd) caused by loss-of-function (lof) mutations in the progranulin gene (grn). |
2017-09-13 |
2023-08-13 |
Not clear |
| Gamze Guven, Ebba Lohmann, Jose Bras, J Raphael Gibbs, Hakan Gurvit, Basar Bilgic, Hasmet Hanagasi, Patrizia Rizzu, Peter Heutink, Murat Emre, Nihan Erginel-Unaltuna, Walter Just, John Hardy, Andrew Singleton, Rita Guerreir. Mutation Frequency of the Major Frontotemporal Dementia Genes, MAPT, GRN and C9ORF72 in a Turkish Cohort of Dementia Patients. PloS one. vol 11. issue 9. 2017-08-02. PMID:27632209. |
mutation frequency of the major frontotemporal dementia genes, mapt, grn and c9orf72 in a turkish cohort of dementia patients. |
2017-08-02 |
2023-08-13 |
Not clear |
| Gamze Guven, Ebba Lohmann, Jose Bras, J Raphael Gibbs, Hakan Gurvit, Basar Bilgic, Hasmet Hanagasi, Patrizia Rizzu, Peter Heutink, Murat Emre, Nihan Erginel-Unaltuna, Walter Just, John Hardy, Andrew Singleton, Rita Guerreir. Mutation Frequency of the Major Frontotemporal Dementia Genes, MAPT, GRN and C9ORF72 in a Turkish Cohort of Dementia Patients. PloS one. vol 11. issue 9. 2017-08-02. PMID:27632209. |
'microtubule-associated protein tau' (mapt), 'granulin' (grn) and 'chromosome 9 open reading frame72' (c9orf72) gene mutations are the major known genetic causes of frontotemporal dementia (ftd). |
2017-08-02 |
2023-08-13 |
Not clear |
| A E Arrant, A J Filiano, B A Warmus, A M Hall, E D Roberso. Progranulin haploinsufficiency causes biphasic social dominance abnormalities in the tube test. Genes, brain, and behavior. vol 15. issue 6. 2017-05-18. PMID:27213486. |
loss-of-function mutations in progranulin (grn) are a major autosomal dominant cause of frontotemporal dementia (ftd), a neurodegenerative disorder in which social behavior is disrupted. |
2017-05-18 |
2023-08-13 |
mouse |
| Lize C Jiskoot, Elise G P Dopper, Tom den Heijer, Reinier Timman, Rick van Minkelen, John C van Swieten, Janne M Papm. Presymptomatic cognitive decline in familial frontotemporal dementia: A longitudinal study. Neurology. vol 87. issue 4. 2017-05-17. PMID:27358337. |
in this prospective cohort study, we performed a 2-year follow-up study with neuropsychological assessment in the presymptomatic phase of familial frontotemporal dementia (ftd) due to grn and mapt mutations to explore the prognostic value of neuropsychological assessment in the earliest ftd disease stages. |
2017-05-17 |
2023-08-13 |
Not clear |
| Kwangsik Nho, Andrew J Saykin, Peter T Nelso. Hippocampal Sclerosis of Aging, a Common Alzheimer's Disease 'Mimic': Risk Genotypes are Associated with Brain Atrophy Outside the Temporal Lobe. Journal of Alzheimer's disease : JAD. vol 52. issue 1. 2017-01-30. PMID:27003218. |
the grn risk snp (rs5848_t) was associated with a pattern of atrophy in the dorsomedial frontal lobes bilaterally, remarkable since grn is a risk factor for frontotemporal dementia. |
2017-01-30 |
2023-08-13 |
human |
| Hansen Lui, Jiasheng Zhang, Stefanie R Makinson, Michelle K Cahill, Kevin W Kelley, Hsin-Yi Huang, Yulei Shang, Michael C Oldham, Lauren Herl Martens, Fuying Gao, Giovanni Coppola, Steven A Sloan, Christine L Hsieh, Charles C Kim, Eileen H Bigio, Sandra Weintraub, Marek-Marsel Mesulam, Rosa Rademakers, Ian R Mackenzie, William W Seeley, Anna Karydas, Bruce L Miller, Barbara Borroni, Roberta Ghidoni, Robert V Farese, Jeanne T Paz, Ben A Barres, Eric J Huan. Progranulin Deficiency Promotes Circuit-Specific Synaptic Pruning by Microglia via Complement Activation. Cell. vol 165. issue 4. 2017-01-10. PMID:27114033. |
here, we use transcriptome profiling to demonstrate that deficiency in frontotemporal dementia (ftd) gene progranulin (grn) leads to an age-dependent, progressive upregulation of lysosomal and innate immunity genes, increased complement production, and enhanced synaptic pruning in microglia. |
2017-01-10 |
2023-08-13 |
mouse |
| Carlo Wilke, Frank Gillardon, Christian Deuschle, Evelyn Dubois, Markus A Hobert, Jennifer Müller vom Hagen, Stefanie Krüger, Saskia Biskup, Cornelis Blauwendraat, Michael Hruscha, Stephan A Kaeser, Peter Heutink, Walter Maetzler, Matthis Synofzi. Serum Levels of Progranulin Do Not Reflect Cerebrospinal Fluid Levels in Neurodegenerative Disease. Current Alzheimer research. vol 13. issue 6. 2017-01-03. PMID:26971930. |
altered progranulin levels play a major role in neurodegenerative diseases, like alzheimer's dementia (ad), frontotemporal dementia (ftd) and amyotrophic lateral sclerosis (als), even in the absence of grn mutations. |
2017-01-03 |
2023-08-13 |
Not clear |
| Emily Feneberg, Petra Steinacker, Alexander Erich Volk, Jochen Hans Weishaupt, Marc Axel Wollmer, Adam Boxer, Hayrettin Tumani, Albert Christian Ludolph, Markus Ott. Progranulin as a candidate biomarker for therapeutic trial in patients with ALS and FTLD. Journal of neural transmission (Vienna, Austria : 1996). vol 123. issue 3. 2016-12-13. PMID:26659729. |
therefore, concentrations of pgrn were measured in paired csf and serum samples of 22 patients with behavioural variant frontotemporal dementia, including one grn mutation carrier (c.349+1g>c), 16 patients with amyotrophic lateral sclerosis and 17 non-neurodegenerative patients, which included 22 follow-up levels. |
2016-12-13 |
2023-08-13 |
Not clear |
| Donata Paternicò, Enrico Premi, Stefano Gazzina, Maura Cosseddu, Antonella Alberici, Silvana Archetti, Maria S Cotelli, Anna Micheli, Marinella Turla, Roberto Gasparotti, Alessandro Padovani, Barbara Borron. White matter hyperintensities characterize monogenic frontotemporal dementia with granulin mutations. Neurobiology of aging. vol 38. 2016-12-13. PMID:26827655. |
no study but one has suggested the presence of white matter hyperintensities (wmhs) in frontotemporal dementia (ftd), limited to 4 cases carrying pathogenic granulin (grn) gene mutations. |
2016-12-13 |
2023-08-13 |
human |
| Enrico Premi, Franco Cauda, Tommaso Costa, Matteo Diano, Stefano Gazzina, Vera Gualeni, Antonella Alberici, Silvana Archetti, Mauro Magoni, Roberto Gasparotti, Alessandro Padovani, Barbara Borron. Looking for Neuroimaging Markers in Frontotemporal Lobar Degeneration Clinical Trials: A Multi-Voxel Pattern Analysis Study in Granulin Disease. Journal of Alzheimer's disease : JAD. vol 51. issue 1. 2016-12-13. PMID:26836150. |
to this aim, we have taken advantage of the multivariate approach of multi-voxel pattern analysis (mvpa) to explore the information of brain activity patterns in a cohort of grn thr272fs carriers at different disease stages (14 frontotemporal dementia (ftd) patients and 17 asymptomatic carriers) and a group of 33 healthy controls. |
2016-12-13 |
2023-08-13 |
Not clear |
| Luisa Benussi, Miriam Ciani, Elisa Tonoli, Michela Morbin, Luisa Palamara, Diego Albani, Federica Fusco, Gianluigi Forloni, Michela Glionna, Monika Baco, Anna Paterlini, Silvia Fostinelli, Benedetta Santini, Elisabetta Galbiati, Paola Gagni, Marina Cretich, Giuliano Binetti, Fabrizio Tagliavini, Davide Prosperi, Marcella Chiari, Roberta Ghidon. Loss of exosomes in progranulin-associated frontotemporal dementia. Neurobiology of aging. vol 40. 2016-12-13. PMID:26973102. |
moreover, we demonstrated that null mutations in the progranulin gene (grn), a major cause of frontotemporal dementia, strongly reduce the number of released exosomes and alter their composition. |
2016-12-13 |
2023-08-13 |
human |
| Julie S Snowden, Jennifer Adams, Jennifer Harris, Jennifer C Thompson, Sara Rollinson, Anna Richardson, Matthew Jones, David Neary, David M Mann, Stuart Pickering-Brow. Distinct clinical and pathological phenotypes in frontotemporal dementia associated with MAPT, PGRN and C9orf72 mutations. Amyotrophic lateral sclerosis & frontotemporal degeneration. vol 16. issue 7-8. 2016-08-31. PMID:26473392. |
our objective was to compare the clinical and pathological characteristics of frontotemporal dementia patients with mapt, grn and c9orf72 gene mutations. |
2016-08-31 |
2023-08-13 |
Not clear |
| Raffaele Ferrari, Michela Ferrara, Anwar Alinani, Roger Brian Sutton, Francesco Famà, Agnese Picco, Guido Rodriguez, Flavio Nobili, Parastoo Momen. Screening of Early and Late Onset Alzheimer's Disease Genetic Risk Factors in a Cohort of Dementia Patients from Liguria, Italy. Current Alzheimer research. vol 12. issue 8. 2016-07-01. PMID:26159191. |
we screened 37 ad, 8 mild cognitive impairment (mci), 3 ad and cvd (cerebrovascular disease), 3 mci and cvd, 8 frontotemporal dementia (ftd) and 2 progressive supranuclear palsy (psp) patients, and 28 normal controls (ncs).we sequenced psen1, psen2 and app (eoad risk factors), as well as mapt, grn and tardbp for all cases and ncs, and analysed the apoe, clu, cr1 and picalm genotypes as well as the mapt and ace haplotypes (load risk factors) for the ad (n = 37) and ad + mci (n = 45) cases and ncs (n = 28).we identified variants in psen1, psen2 and tardbp across a range of phenotypes (ad, ad and cvd, ftd and psp), suggesting that screening of all known candidate genes of alzheimer's and non-alzheimer's forms of dementias in all dementia cases might be warranted. |
2016-07-01 |
2023-08-13 |
Not clear |
| Sara Van Mossevelde, Julie van der Zee, Ilse Gijselinck, Sebastiaan Engelborghs, Anne Sieben, Tim Van Langenhove, Jan De Bleecker, Jonathan Baets, Mathieu Vandenbulcke, Koen Van Laere, Sarah Ceyssens, Marleen Van den Broeck, Karin Peeters, Maria Mattheijssens, Patrick Cras, Rik Vandenberghe, Peter De Jonghe, Jean-Jacques Martin, Peter P De Deyn, Marc Cruts, Christine Van Broeckhove. Clinical features of TBK1 carriers compared with C9orf72, GRN and non-mutation carriers in a Belgian cohort. Brain : a journal of neurology. vol 139. issue Pt 2. 2016-06-30. PMID:26674655. |
further, we compared genotype-phenotype data of tbk1 carriers with frontotemporal dementia (n = 7), with those of frontotemporal dementia patients with a c9orf72 repeat expansion (n = 65) or a grn mutation (n = 52) and with frontotemporal dementia patients (n = 259) negative for mutations in currently known causal genes. |
2016-06-30 |
2023-08-13 |
Not clear |
| Eva C Schulte, Akio Fukumori, Brit Mollenhauer, Hyun Hor, Thomas Arzberger, Robert Perneczky, Alexander Kurz, Janine Diehl-Schmid, Michael Hüll, Peter Lichtner, Gertrud Eckstein, Alexander Zimprich, Dietrich Haubenberger, Walter Pirker, Thomas Brücke, Benjamin Bereznai, Maria J Molnar, Oswaldo Lorenzo-Betancor, Pau Pastor, Annette Peters, Christian Gieger, Xavier Estivill, Thomas Meitinger, Hans A Kretzschmar, Claudia Trenkwalder, Christian Haass, Juliane Winkelman. Rare variants in β-Amyloid precursor protein (APP) and Parkinson's disease. European journal of human genetics : EJHG. vol 23. issue 10. 2016-06-15. PMID:25604855. |
we investigated the contribution of rare variants in seven genes of known relevance to dementias (β-amyloid precursor protein (app), psen1/2, mapt (microtubule-associated protein tau), fused in sarcoma (fus), granulin (grn) and tar dna-binding protein 43 (tdp-43)) to pd and pd plus dementia (pd+d) in a discovery sample of 376 individuals with pd and followed by the genotyping of 25 out of the 27 identified variants with a minor allele frequency <5% in 975 individuals with pd, 93 cases with lewy body disease on neuropathological examination, 613 individuals with alzheimer's disease (ad), 182 cases with frontotemporal dementia and 1014 general population controls. |
2016-06-15 |
2023-08-13 |
Not clear |
| Jonathan Janssens, Stéphanie Philtjens, Gernot Kleinberger, Sara Van Mossevelde, Julie van der Zee, Rita Cacace, Sebastiaan Engelborghs, Anne Sieben, Julia Banzhaf-Strathmann, Lubina Dillen, Céline Merlin, Ivy Cuijt, Caroline Robberecht, Bettina Schmid, Patrick Santens, Adrian Ivanoiu, Mathieu Vandenbulcke, Rik Vandenberghe, Patrick Cras, Peter P De Deyn, Jean-Jacques Martin, Stuart Maudsley, Christian Haass, Marc Cruts, Christine Van Broeckhove. Investigating the role of filamin C in Belgian patients with frontotemporal dementia linked to GRN deficiency in FTLD-TDP brains. Acta neuropathologica communications. vol 3. 2016-05-27. PMID:26555887. |
investigating the role of filamin c in belgian patients with frontotemporal dementia linked to grn deficiency in ftld-tdp brains. |
2016-05-27 |
2023-08-13 |
mouse |
| Roger G E Palfree, Hugh P J Bennett, Andrew Batema. The Evolution of the Secreted Regulatory Protein Progranulin. PloS one. vol 10. issue 8. 2016-05-18. PMID:26248158. |
haploinsufficiency of the human progranulin gene, grn, causes frontotemporal dementia. |
2016-05-18 |
2023-08-13 |
human |
| Maite Mendioroz Iriarte, Laura Pulido Fontes, Iván Méndez-Lópe. [Neuroepigenetics: Desoxyribonucleic acid methylation in Alzheimer's disease and other dementias]. Medicina clinica. vol 144. issue 10. 2016-02-04. PMID:24907105. |
in other degenerative dementias, methylation variants have also been described in key genes, such as hypomethylation of the snca gene in parkinson's disease and dementia with lewy bodies or hypermethylation of the grn gene promoter in frontotemporal dementia. |
2016-02-04 |
2023-08-13 |
human |
| 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 |