| Publication |
Sentence |
Publish Date |
Extraction Date |
Species |
| Stefano Gazzina, Silvana Archetti, Antonella Alberici, Elisa Bonomi, Maura Cosseddu, Diego Di Lorenzo, Alessandro Padovani, Barbara Borron. Frontotemporal Dementia due to the Novel GRN Arg161GlyfsX36 Mutation. Journal of Alzheimer's disease : JAD. vol 57. issue 4. 2018-02-23. PMID:28304311. |
frontotemporal dementia due to the novel grn arg161glyfsx36 mutation. |
2018-02-23 |
2023-08-13 |
Not clear |
| Stefano Gazzina, Silvana Archetti, Antonella Alberici, Elisa Bonomi, Maura Cosseddu, Diego Di Lorenzo, Alessandro Padovani, Barbara Borron. Frontotemporal Dementia due to the Novel GRN Arg161GlyfsX36 Mutation. Journal of Alzheimer's disease : JAD. vol 57. issue 4. 2018-02-23. PMID:28304311. |
loss-of-function mutations in the granulin (grn) gene are causative of frontotemporal dementia with tar dna-binding protein-43 inclusions. |
2018-02-23 |
2023-08-13 |
Not clear |
| Stefano Gazzina, Silvana Archetti, Antonella Alberici, Elisa Bonomi, Maura Cosseddu, Diego Di Lorenzo, Alessandro Padovani, Barbara Borron. Frontotemporal Dementia due to the Novel GRN Arg161GlyfsX36 Mutation. Journal of Alzheimer's disease : JAD. vol 57. issue 4. 2018-02-23. PMID:28304311. |
this case expands our knowledge on grn mutations in frontotemporal dementia. |
2018-02-23 |
2023-08-13 |
Not clear |
| David M A Mann, Julie S Snowde. Frontotemporal lobar degeneration: Pathogenesis, pathology and pathways to phenotype. Brain pathology (Zurich, Switzerland). vol 27. issue 6. 2018-01-26. PMID:28100023. |
there are three major associated clinical syndromes, behavioral variant frontotemporal dementia (bvftd), semantic dementia (sd) and progressive non-fluent aphasia (pnfa); three principal histologies, involving tau, tdp-43 and fus proteins; and mutations in three major genes, mapt, grn and c9orf72, along with several other less common gene mutations. |
2018-01-26 |
2023-08-13 |
Not clear |
| Celeste Sassi, Rosa Capozzo, Raphael Gibbs, Cynthia Crews, Chiara Zecca, Simona Arcuti, Massimiliano Copetti, Maria R Barulli, Vincenzo Brescia, Andrew B Singleton, Giancarlo Logroscin. A Novel Splice-Acceptor Site Mutation in GRN (c.709-2 A>T) Causes Frontotemporal Dementia Spectrum in a Large Family from Southern Italy. Journal of Alzheimer's disease : JAD. vol 53. issue 2. 2018-01-25. PMID:27258413. |
a novel splice-acceptor site mutation in grn (c.709-2 a>t) causes frontotemporal dementia spectrum in a large family from southern italy. |
2018-01-25 |
2023-08-13 |
Not clear |
| Celeste Sassi, Rosa Capozzo, Raphael Gibbs, Cynthia Crews, Chiara Zecca, Simona Arcuti, Massimiliano Copetti, Maria R Barulli, Vincenzo Brescia, Andrew B Singleton, Giancarlo Logroscin. A Novel Splice-Acceptor Site Mutation in GRN (c.709-2 A>T) Causes Frontotemporal Dementia Spectrum in a Large Family from Southern Italy. Journal of Alzheimer's disease : JAD. vol 53. issue 2. 2018-01-25. PMID:27258413. |
we report a novel grn splice site mutation (c.709-2 a>t), segregating with frontotemporal dementia spectrum in a large family from southern italy. |
2018-01-25 |
2023-08-13 |
Not clear |
| Sander Beel, Matthieu Moisse, Markus Damme, Louis De Muynck, Wim Robberecht, Ludo Van Den Bosch, Paul Saftig, Philip Van Damm. Progranulin functions as a cathepsin D chaperone to stimulate axonal outgrowth in vivo. Human molecular genetics. vol 26. issue 15. 2018-01-08. PMID:28453791. |
loss of function mutations in progranulin (grn) cause frontotemporal dementia, but how grn haploinsufficiency causes neuronal dysfunction remains unclear. |
2018-01-08 |
2023-08-13 |
mouse |
| Babykumari P Chitramuthu, Hugh P J Bennett, Andrew Batema. Progranulin: a new avenue towards the understanding and treatment of neurodegenerative disease. Brain : a journal of neurology. vol 140. issue 12. 2017-12-13. PMID:29053785. |
haploinsufficiency caused by autosomal dominant mutations within the grn gene leads to frontotemporal lobar degeneration, a progressive neuronal atrophy that presents in patients as frontotemporal dementia. |
2017-12-13 |
2023-08-13 |
Not clear |
| Leonel T Takada, Valeria S Bahia, Henrique C Guimarães, Thais V M M Costa, Thiago C Vale, Roberta D Rodriguez, Fabio H G Porto, João C B Machado, Rogério G Beato, Karolina G Cesar, Jerusa Smid, Camila F Nascimento, Lea T Grinberg, Sonia M D Brucki, Jessica R Maximino, Sarah T Camargos, Gerson Chadi, Paulo Caramelli, Ricardo Nitrin. GRN and MAPT Mutations in 2 Frontotemporal Dementia Research Centers in Brazil. Alzheimer disease and associated disorders. vol 30. issue 4. 2017-11-16. PMID:27082848. |
grn and mapt mutations in 2 frontotemporal dementia research centers in brazil. |
2017-11-16 |
2023-08-13 |
Not clear |
| Leonel T Takada, Valeria S Bahia, Henrique C Guimarães, Thais V M M Costa, Thiago C Vale, Roberta D Rodriguez, Fabio H G Porto, João C B Machado, Rogério G Beato, Karolina G Cesar, Jerusa Smid, Camila F Nascimento, Lea T Grinberg, Sonia M D Brucki, Jessica R Maximino, Sarah T Camargos, Gerson Chadi, Paulo Caramelli, Ricardo Nitrin. GRN and MAPT Mutations in 2 Frontotemporal Dementia Research Centers in Brazil. Alzheimer disease and associated disorders. vol 30. issue 4. 2017-11-16. PMID:27082848. |
mutations in grn (progranulin) and mapt (microtubule-associated protein tau) are among the most frequent causes of monogenic frontotemporal dementia (ftd), but data on the frequency of these mutations in regions such as latin america are still lacking. |
2017-11-16 |
2023-08-13 |
Not clear |
| Cinzia Coppola, Dario Saracino, Gianfranco Puoti, Giacomo Lus, Clemente Dato, Isabelle Le Ber, Jeremie Pariente, Paola Caroppo, Elena Piccoli, Fabrizio Tagliavini, Giuseppe Di Iorio, Giacomina Ross. A cluster of progranulin C157KfsX97 mutations in Southern Italy: clinical characterization and genetic correlations. Neurobiology of aging. vol 49. 2017-11-16. PMID:27814992. |
in this study, we described the clinical characteristics of 7 italian patients, 5 with a diagnosis of frontotemporal dementia behavioral variant and 2 of corticobasal syndrome (cbs), carrying the grn deletion g.101349_101355delctgctgt, resulting in the c157kfsx97 null mutation, and hypothesized the existence of a founder effect by means of haplotype sharing analysis. |
2017-11-16 |
2023-08-13 |
Not clear |
| Graziella Milan, Sabrina Napoletano, Sabina Pappatà, Maria Teresa Gentile, Luca Colucci-D'Amato, Gennaro Della Rocca, Anna Maciag, Carmen Palermo Rossetti, Laura Fucci, Annibale Puca, Dario Grossi, Alfredo Postiglione, Emilia Vital. GRN deletion in familial frontotemporal dementia showing association with clinical variability in 3 familial cases. Neurobiology of aging. vol 53. 2017-11-16. PMID:28153380. |
grn deletion in familial frontotemporal dementia showing association with clinical variability in 3 familial cases. |
2017-11-16 |
2023-08-13 |
Not clear |
| Graziella Milan, Sabrina Napoletano, Sabina Pappatà, Maria Teresa Gentile, Luca Colucci-D'Amato, Gennaro Della Rocca, Anna Maciag, Carmen Palermo Rossetti, Laura Fucci, Annibale Puca, Dario Grossi, Alfredo Postiglione, Emilia Vital. GRN deletion in familial frontotemporal dementia showing association with clinical variability in 3 familial cases. Neurobiology of aging. vol 53. 2017-11-16. PMID:28153380. |
progranulin (grn) gene mutations have been genetically associated with frontotemporal dementia (ftd) and are present in about 23% of patients with familial ftd. |
2017-11-16 |
2023-08-13 |
Not clear |
| Christopher J Holler, Georgia Taylor, Zachary T McEachin, Qiudong Deng, William J Watkins, Kathryn Hudson, Charles A Easley, William T Hu, Chadwick M Hales, Wilfried Rossoll, Gary J Bassell, Thomas Kuka. Trehalose upregulates progranulin expression in human and mouse models of GRN haploinsufficiency: a novel therapeutic lead to treat frontotemporal dementia. Molecular neurodegeneration. vol 11. issue 1. 2017-11-09. PMID:27341800. |
trehalose upregulates progranulin expression in human and mouse models of grn haploinsufficiency: a novel therapeutic lead to treat frontotemporal dementia. |
2017-11-09 |
2023-08-13 |
mouse |
| Andrew E Arrant, Anthony J Filiano, Daniel E Unger, Allen H Young, Erik D Roberso. Restoring neuronal progranulin reverses deficits in a mouse model of frontotemporal dementia. Brain : a journal of neurology. vol 140. issue 5. 2017-10-30. PMID:28379303. |
loss-of-function mutations in progranulin (grn), a secreted glycoprotein expressed by neurons and microglia, are a common autosomal dominant cause of frontotemporal dementia, a neurodegenerative disease commonly characterized by disrupted social and emotional behaviour. |
2017-10-30 |
2023-08-13 |
mouse |
| Andrew E Arrant, Anthony J Filiano, Daniel E Unger, Allen H Young, Erik D Roberso. Restoring neuronal progranulin reverses deficits in a mouse model of frontotemporal dementia. Brain : a journal of neurology. vol 140. issue 5. 2017-10-30. PMID:28379303. |
grn mutations are thought to cause frontotemporal dementia through progranulin haploinsufficiency, therefore, boosting progranulin expression from the intact allele is a rational treatment strategy. |
2017-10-30 |
2023-08-13 |
mouse |
| Andrew E Arrant, Anthony J Filiano, Daniel E Unger, Allen H Young, Erik D Roberso. Restoring neuronal progranulin reverses deficits in a mouse model of frontotemporal dementia. Brain : a journal of neurology. vol 140. issue 5. 2017-10-30. PMID:28379303. |
here, we show that adeno-associated virus-driven expression of progranulin in the medial prefrontal cortex reverses social dominance deficits in grn+/- mice, an animal model of frontotemporal dementia due to grn mutations. |
2017-10-30 |
2023-08-13 |
mouse |
| Min Tang, Xiaohua Gu, Jingya Wei, Bin Jiao, Lin Zhou, Yafang Zhou, Ling Weng, Xinxiang Yan, Beisha Tang, Jun Xu, Lu She. Analyses MAPT, GRN, and C9orf72 mutations in Chinese patients with frontotemporal dementia. Neurobiology of aging. vol 46. 2017-09-28. PMID:27311648. |
analyses mapt, grn, and c9orf72 mutations in chinese patients with frontotemporal dementia. |
2017-09-28 |
2023-08-13 |
Not clear |
| Sandra Almeida, Fuying Gao, Giovanni Coppola, Fen-Biao Ga. Suberoylanilide hydroxamic acid increases progranulin production in iPSC-derived cortical neurons of frontotemporal dementia patients. Neurobiology of aging. vol 42. 2017-09-19. PMID:27143419. |
mutations in the granulin (grn) gene cause frontotemporal dementia (ftd) due to progranulin haploinsufficiency. |
2017-09-19 |
2023-08-13 |
human |
| Fermin Moreno, Begoña Indakoetxea, Myriam Barandiaran, María Cristina Caballero, Ana Gorostidi, Francesc Calafell, Alazne Gabilondo, Mikel Tainta, Miren Zulaica, José F Martí Massó, Adolfo López de Munain, Pascual Sánchez-Juan, Suzee E Le. The unexpected co-occurrence of GRN and MAPT p.A152T in Basque families: Clinical and pathological characteristics. PloS one. vol 12. issue 6. 2017-09-18. PMID:28594853. |
the co-occurrence of the c.709-1g>a grn mutation and the p.a152t mapt variant has been identified in 18 basque families affected by frontotemporal dementia (ftd). |
2017-09-18 |
2023-08-13 |
Not clear |