| Publication |
Sentence |
Publish Date |
Extraction Date |
Species |
| 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 |
| 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 |
| Alberto Calvi, Sara M G Cioffi, Paolo Caffarra, Chiara Fenoglio, Maria Serpente, Anna M Pietroboni, Andrea Arighi, Laura Ghezzi, Simona Gardini, Elio Scarpini, Daniela Galimbert. The novel GRN g.1159_1160delTG mutation is associated with behavioral variant frontotemporal dementia. Journal of Alzheimer's disease : JAD. vol 44. issue 1. 2015-09-10. PMID:25261445. |
the novel grn g.1159_1160deltg mutation is associated with behavioral variant frontotemporal dementia. |
2015-09-10 |
2023-08-13 |
Not clear |
| Gianfranco Puoti, Maria Cristina Lerza, Maria Giulia Ferretti, Orso Bugiani, Fabrizio Tagliavini, Giacomina Ross. A mutation in the 5'-UTR of GRN gene associated with frontotemporal lobar degeneration: phenotypic variability and possible pathogenetic mechanisms. Journal of Alzheimer's disease : JAD. vol 42. issue 3. 2015-08-25. PMID:25024321. |
in particular, mutations in grn account for 5-10% of all cases and give rise to a wide spectrum of clinical phenotypes, ranging from behavioral frontotemporal dementia (bvftd) to primary progressive aphasia, including progressive non-fluent aphasia (pnfa) and semantic dementia, and corticobasal syndrome (cbs). |
2015-08-25 |
2023-08-13 |
Not clear |
| Susanna Raitano, Laura Ordovàs, Louis De Muynck, Wenting Guo, Ira Espuny-Camacho, Martine Geraerts, Satish Khurana, Kim Vanuytsel, Balazs I Tóth, Thomas Voets, Rik Vandenberghe, Toni Cathomen, Ludo Van Den Bosch, Pierre Vanderhaeghen, Philip Van Damme, Catherine M Verfailli. Restoration of progranulin expression rescues cortical neuron generation in an induced pluripotent stem cell model of frontotemporal dementia. Stem cell reports. vol 4. issue 1. 2015-07-23. PMID:25556567. |
to understand how haploinsufficiency of progranulin (pgrn) causes frontotemporal dementia (ftd), we created induced pluripotent stem cells (ipscs) from patients carrying the grn(ivs1+5g > c) mutation (ftd-ipscs). |
2015-07-23 |
2023-08-13 |
Not clear |
| Enrico Premi, Franco Cauda, Roberto Gasparotti, Matteo Diano, Silvana Archetti, Alessandro Padovani, Barbara Borron. Multimodal FMRI resting-state functional connectivity in granulin mutations: the case of fronto-parietal dementia. PloS one. vol 9. issue 9. 2015-05-15. PMID:25188321. |
frontotemporal dementia related to granulin (grn) mutations presents a specific framework of brain damage, involving fronto-temporal regions and long inter-hemispheric white matter bundles. |
2015-05-15 |
2023-08-13 |
Not clear |
| Bradley J Hallam, Claudia Jacova, Ging-Yuek R Hsiung, Dana Wittenberg, Pheth Sengdy, Phoenix Bouchard-Kerr, Penny Slack, Rosa Rademakers, Matthew Baker, Tiffany W Chow, Brian Levine, Howard H Feldman, Ian R Mackenzi. Early neuropsychological characteristics of progranulin mutation carriers. Journal of the International Neuropsychological Society : JINS. vol 20. issue 7. 2015-04-06. PMID:24993774. |
mutations in the progranulin gene (grn) are a common cause of familial frontotemporal dementia. |
2015-04-06 |
2023-08-13 |
human |
| Bradley J Hallam, Claudia Jacova, Ging-Yuek R Hsiung, Dana Wittenberg, Pheth Sengdy, Phoenix Bouchard-Kerr, Penny Slack, Rosa Rademakers, Matthew Baker, Tiffany W Chow, Brian Levine, Howard H Feldman, Ian R Mackenzi. Early neuropsychological characteristics of progranulin mutation carriers. Journal of the International Neuropsychological Society : JINS. vol 20. issue 7. 2015-04-06. PMID:24993774. |
measurable cognitive differences exist before the development of frontotemporal dementia in subjects with grn mutations. |
2015-04-06 |
2023-08-13 |
human |
| A Alberici, S Archetti, A Pilotto, E Premi, M Cosseddu, A Bianchetti, F Semeraro, M Salvetti, M L Muiesan, A Padovani, B Borron. Results from a pilot study on amiodarone administration in monogenic frontotemporal dementia with granulin mutation. Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology. vol 35. issue 8. 2015-03-30. PMID:24569924. |
frontotemporal dementia (ftd) is one of the most important neurodegenerative conditions and granulin (grn) is one of the major genes associated to the disease. |
2015-03-30 |
2023-08-12 |
human |
| Paola Caroppo, Isabelle Le Ber, Agnès Camuzat, Fabienne Clot, Lionel Naccache, Foudil Lamari, Anne De Septenville, Anne Bertrand, Serge Belliard, Didier Hannequin, Olivier Colliot, Alexis Bric. Extensive white matter involvement in patients with frontotemporal lobar degeneration: think progranulin. JAMA neurology. vol 71. issue 12. 2015-03-06. PMID:25317628. |
mutations in the progranulin (grn) gene are responsible for 20% of familial cases of frontotemporal dementias. |
2015-03-06 |
2023-08-13 |
Not clear |
| Marka van Blitterswijk, Bianca Mullen, Alexandra M Nicholson, Kevin F Bieniek, Michael G Heckman, Matthew C Baker, Mariely DeJesus-Hernandez, Nicole A Finch, Patricia H Brown, Melissa E Murray, Ging-Yuek R Hsiung, Heather Stewart, Anna M Karydas, Elizabeth Finger, Andrew Kertesz, Eileen H Bigio, Sandra Weintraub, Marsel Mesulam, Kimmo J Hatanpaa, Charles L White, Michael J Strong, Thomas G Beach, Zbigniew K Wszolek, Carol Lippa, Richard Caselli, Leonard Petrucelli, Keith A Josephs, Joseph E Parisi, David S Knopman, Ronald C Petersen, Ian R Mackenzie, William W Seeley, Lea T Grinberg, Bruce L Miller, Kevin B Boylan, Neill R Graff-Radford, Bradley F Boeve, Dennis W Dickson, Rosa Rademaker. TMEM106B protects C9ORF72 expansion carriers against frontotemporal dementia. Acta neuropathologica. vol 127. issue 3. 2014-10-20. PMID:24385136. |
variants in transmembrane protein 106 b (tmem106b) modify the disease penetrance of frontotemporal dementia (ftd) in carriers of progranulin (grn) mutations. |
2014-10-20 |
2023-08-12 |
Not clear |
| Cristian Bonvicini, Elena Milanesi, Andrea Pilotto, Nadia Cattane, Enrico Premi, Silvana Archetti, Alessandro Padovani, Massimo Gennarelli, Barbara Borron. Understanding phenotype variability in frontotemporal lobar degeneration due to granulin mutation. Neurobiology of aging. vol 35. issue 5. 2014-10-06. PMID:24368088. |
phenotype in patients with granulin (grn) mutations is unpredictable, ranging from behavioral variant frontotemporal dementia (bvftd) to agrammatic variant of primary progressive aphasia (avppa). |
2014-10-06 |
2023-08-12 |
Not clear |
| Eun-Joo Kim, Jay C Kwon, Kee Hyung Park, Kyung-Won Park, Jae-Hong Lee, Seong Hye Choi, Jee H Jeong, Byeong C Kim, Soo Jin Yoon, Young Chul Yoon, Sangyun Kim, Key-Chung Park, Byung-Ok Choi, Duk L Na, Chang-Seok Ki, Seung Hyun Ki. Clinical and genetic analysis of MAPT, GRN, and C9orf72 genes in Korean patients with frontotemporal dementia. Neurobiology of aging. vol 35. issue 5. 2014-10-06. PMID:24387985. |
clinical and genetic analysis of mapt, grn, and c9orf72 genes in korean patients with frontotemporal dementia. |
2014-10-06 |
2023-08-12 |
Not clear |
| Eun-Joo Kim, Jay C Kwon, Kee Hyung Park, Kyung-Won Park, Jae-Hong Lee, Seong Hye Choi, Jee H Jeong, Byeong C Kim, Soo Jin Yoon, Young Chul Yoon, Sangyun Kim, Key-Chung Park, Byung-Ok Choi, Duk L Na, Chang-Seok Ki, Seung Hyun Ki. Clinical and genetic analysis of MAPT, GRN, and C9orf72 genes in Korean patients with frontotemporal dementia. Neurobiology of aging. vol 35. issue 5. 2014-10-06. PMID:24387985. |
the hexanucleotide repeat expansion (ggggcc) in chromosome 9 open-reading frame 72 (c9orf72) and mutations in the microtubule-associated protein tau (mapt) and progranulin (grn) genes are known to be associated with the main causes of familial or sporadic amyotrophic lateral sclerosis and frontotemporal dementia (ftd) in western populations. |
2014-10-06 |
2023-08-12 |
Not clear |
| Miryam Carecchio, Daniela Galimberti, Chiara Fenoglio, Maria Serpente, Elio Scarpini, Cristoforo Comi, Emanuela Terazzi, Roberto Cantell. Evidence of pre-synaptic dopaminergic deficit in a patient with a novel progranulin mutation presenting with atypical parkinsonism. Journal of Alzheimer's disease : JAD. vol 38. issue 4. 2014-08-17. PMID:24064467. |
parkinsonism can be the presenting feature of frontotemporal dementia due to progranulin (grn) mutations or develop over the course of the disease, mimicking idiopathic parkinson's disease or atypical parkinsonism. |
2014-08-17 |
2023-08-12 |
Not clear |
| Enrico Premi, Stefano Gazzina, Marco Bozzali, Silvana Archetti, Antonella Alberici, Mara Cercignani, Angelo Bianchetti, Roberto Gasparotti, Marinella Turla, Carlo Caltagirone, Alessandro Padovani, Barbara Borron. Cognitive reserve in granulin-related frontotemporal dementia: from preclinical to clinical stages. PloS one. vol 8. issue 9. 2014-07-01. PMID:24040338. |
we tested here the cognitive reserve hypothesis in patients with frontotemporal dementia (ftd), with or without pathogenetic granulin mutations (grn+ and grn-), and in presymptomatic grn mutation carriers (agrn+). |
2014-07-01 |
2023-08-12 |
Not clear |
| b' Marc Su\\xc3\\xa1rez-Calvet, Oriol Dols-Icardo, Albert Llad\\xc3\\xb3, Raquel S\\xc3\\xa1nchez-Valle, Isabel Hern\\xc3\\xa1ndez, Guillermo Amer, Sof\\xc3\\xada Ant\\xc3\\xb3n-Aguirre, Daniel Alcolea, Juan Fortea, Isidre Ferrer, Julie van der Zee, Lubina Dillen, Christine Van Broeckhoven, Jos\\xc3\\xa9 Lu\\xc3\\xads Molinuevo, Rafael Blesa, Jordi Clarim\\xc3\\xb3n, Alberto Lle\\xc3\\xb. Plasma phosphorylated TDP-43 levels are elevated in patients with frontotemporal dementia carrying a C9orf72 repeat expansion or a GRN mutation. Journal of neurology, neurosurgery, and psychiatry. vol 85. issue 6. 2014-06-20. PMID:24309270.' |
plasma phosphorylated tdp-43 levels are elevated in patients with frontotemporal dementia carrying a c9orf72 repeat expansion or a grn mutation. |
2014-06-20 |
2023-08-12 |
Not clear |