| Publication |
Sentence |
Publish Date |
Extraction Date |
Species |
| b' Elka Stefanova, Ana Marjanovi\\xc4\\x87, Valerija Dobri\\xc4\\x8di\\xc4\\x87, Gorana Mandi\\xc4\\x87-Stojmenovi\\xc4\\x87, Tanja Stojkovi\\xc4\\x87, Marija Brankovi\\xc4\\x87, Maksim \\xc5\\xa0ar\\xc4\\x8devi\\xc4\\x87, Ivana Novakovi\\xc4\\x87, Vladimir S Kosti\\xc4\\x8. Frequency of C9orf72, GRN, and MAPT pathogenic variants in patients recruited at the Belgrade Memory Center. Neurogenetics. 2024-06-07. PMID:38847891.' |
herein, we assessed the frequency of the c9orf72 expansion, pathogenic/likely pathogenic variants in grn and mapt in a well-characterized group of 472 subjects (ftd, alzheimer's disease - ad, mild cognitive impairment - mci, and unspecified dementia - und), recruited in the memory center, neurology clinic, university clinical center of serbia. |
2024-06-07 |
2024-06-10 |
human |
| Shreya N Kashyap, Nicholas R Boyle, Erik D Roberso. Preclinical Interventions in Mouse Models of Frontotemporal Dementia Due to Progranulin Mutations. Neurotherapeutics : the journal of the American Society for Experimental NeuroTherapeutics. 2023-02-13. PMID:36781744. |
heterozygous loss-of-function mutations in progranulin (grn) cause frontotemporal dementia (ftd), a leading cause of early-onset dementia characterized clinically by behavioral, social, and language deficits. |
2023-02-13 |
2023-08-14 |
mouse |
| Paolo Reho, Shunsuke Koga, Zalak Shah, Ruth Chia, Rosa Rademakers, Clifton L Dalgard, Bradley F Boeve, Thomas G Beach, Dennis W Dickson, Owen A Ross, Sonja W Schol. GRN Mutations Are Associated with Lewy Body Dementia. Movement disorders : official journal of the Movement Disorder Society. 2022-07-10. PMID:35810449. |
grn mutations are associated with lewy body dementia. |
2022-07-10 |
2023-08-14 |
Not clear |
| Mathieu Barbier, Agnès Camuzat, Khalid El Hachimi, Justine Guegan, Daisy Rinaldi, Serena Lattante, Marion Houot, Raquel Sánchez-Valle, Mario Sabatelli, Anna Antonell, Laura Molina-Porcel, Fabienne Clot, Philippe Couratier, Emma van der Ende, Julie van der Zee, Claudia Manzoni, William Camu, Cécile Cazeneuve, François Sellal, Mira Didic, Véronique Golfier, Florence Pasquier, Charles Duyckaerts, Giacomina Rossi, Amalia C Bruni, Victoria Alvarez, Estrella Gómez-Tortosa, Alexandre de Mendonça, Caroline Graff, Mario Masellis, Benedetta Nacmias, Badreddine Mohand Oumoussa, Ludmila Jornea, Sylvie Forlani, Viviana Van Deerlin, Jonathan D Rohrer, Ellen Gelpi, Rosa Rademakers, John Van Swieten, Eric Le Guern, Christine Van Broeckhoven, Raffaele Ferrari, Emmanuelle Génin, Alexis Brice, Isabelle Le Be. SLITRK2, an X-linked modifier of the age at onset in C9orf72 frontotemporal lobar degeneration. Brain : a journal of neurology. vol 144. issue 9. 2021-12-09. PMID:34687211. |
no association of rs1009776 was detected in grn patients, suggesting that the effect of rs1009776 was restricted to the onset of dementia due to c9orf72. |
2021-12-09 |
2023-08-13 |
Not clear |
| Megan S Barker, Masood Manoochehri, Sandra J Rizer, Brian S Appleby, Danielle Brushaber, Sheena I Dev, Katrina L Devick, Bradford C Dickerson, Julie A Fields, Tatiana M Foroud, Leah K Forsberg, Douglas R Galasko, Nupur Ghoshal, Neill R Graff-Radford, Murray Grossman, Hilary W Heuer, Ging-Yuek Hsiung, John Kornak, Irene Litvan, Ian R Mackenzie, Mario F Mendez, Belen Pascual, Katherine P Rankin, Katya Rascovsky, Adam M Staffaroni, Maria Carmela Tartaglia, Sandra Weintraub, Bonnie Wong, Bradley F Boeve, Adam L Boxer, Howard J Rosen, Jill Goldman, Edward D Huey, Stephanie Cosentin. Recognition memory and divergent cognitive profiles in prodromal genetic frontotemporal dementia. Cortex; a journal devoted to the study of the nervous system and behavior. vol 139. 2021-07-12. PMID:33857770. |
list learning may be a sensitive cognitive marker for incipient dementia in mapt and potentially a subset of grn carriers. |
2021-07-12 |
2023-08-13 |
human |
| Hugo Botha, NiCole A Finch, Ralitza H Gavrilova, Mary M Machulda, Julie A Fields, Val J Lowe, Ronald C Petersen, Clifford R Jack, Christina M Dheel, Debra J Gearhart, David S Knopman, Rosa Rademakers, Bradley F Boev. Novel GRN mutation presenting as an aphasic dementia and evolving into corticobasal syndrome. Neurology. Genetics. vol 3. issue 6. 2020-10-01. PMID:29264393. |
novel grn mutation presenting as an aphasic dementia and evolving into corticobasal syndrome. |
2020-10-01 |
2023-08-13 |
Not clear |
| Vincent Huin, Mathieu Barbier, Armand Bottani, Johannes Alexander Lobrinus, Fabienne Clot, Foudil Lamari, Laureen Chat, Benoît Rucheton, Frédérique Fluchère, Stéphane Auvin, Peter Myers, Antoinette Gelot, Agnès Camuzat, Catherine Caillaud, Ludmila Jornéa, Sylvie Forlani, Dario Saracino, Charles Duyckaerts, Alexis Brice, Alexandra Durr, Isabelle Le Be. Homozygous GRN mutations: new phenotypes and new insights into pathological and molecular mechanisms. Brain : a journal of neurology. vol 143. issue 1. 2020-08-18. PMID:31855245. |
semi-dominant inheritance of grn mutations implies that specific genetic counselling should be delivered to children and parents of cln11 patients, as they are heterozygous carriers with a high risk of developing dementia. |
2020-08-18 |
2023-08-13 |
Not clear |
| Suzee E Lee, Ana C Sias, Eena L Kosik, Taru M Flagan, Jersey Deng, Stephanie A Chu, Jesse A Brown, Anna A Vidovszky, Eliana Marisa Ramos, Maria Luisa Gorno-Tempini, Anna M Karydas, Giovanni Coppola, Daniel H Geschwind, Rosa Rademakers, Bradley F Boeve, Adam L Boxer, Howard J Rosen, Bruce L Miller, William W Seele. Thalamo-cortical network hyperconnectivity in preclinical progranulin mutation carriers. NeuroImage. Clinical. vol 22. 2020-01-17. PMID:30921613. |
mutations in progranulin (grn) cause heterogeneous clinical syndromes, including behavioral variant frontotemporal dementia (bvftd), primary progressive aphasia (ppa), corticobasal syndrome (cbs) and alzheimer-type dementia (ad-type dementia). |
2020-01-17 |
2023-08-13 |
mouse |
| Vivek Swarup, Flora I Hinz, Jessica E Rexach, Ken-Ichi Noguchi, Hiroyoshi Toyoshiba, Akira Oda, Keisuke Hirai, Arjun Sarkar, Nicholas T Seyfried, Chialin Cheng, Stephen J Haggarty, Murray Grossman, Vivianna M Van Deerlin, John Q Trojanowski, James J Lah, Allan I Levey, Shinichi Kondou, Daniel H Geschwin. Identification of evolutionarily conserved gene networks mediating neurodegenerative dementia. Nature medicine. vol 25. issue 1. 2019-05-10. PMID:30510257. |
we identify two gene coexpression modules that are preserved in mice harboring mutations in mapt, grn and other dementia mutations on diverse genetic backgrounds. |
2019-05-10 |
2023-08-13 |
mouse |
| Petra Pasanen, Liisa Myllykangas, Minna Pöyhönen, Anna Kiviharju, Maija Siitonen, John Hardy, Jose Bras, Anders Paetau, Pentti J Tienari, Rita Guerreiro, Auli Verkkoniemi-Ahol. Genetics of dementia in a Finnish cohort. European journal of human genetics : EJHG. vol 26. issue 6. 2019-02-21. PMID:29476165. |
our aim was to clarify the genetic background of dementia in this cohort by analysing both known dementia-associated genes (apoe, app, c9orf72, grn, psen1 and psen2) and searching for rare or novel segregating variants with exome sequencing. |
2019-02-21 |
2023-08-13 |
human |
| Veronica Redaelli, Giacomina Rossi, Emanuela Maderna, Gabor G Kovacs, Elena Piccoli, Paola Caroppo, Francesca Cacciatore, Sonia Spinello, Marina Grisoli, Giuliano Sozzi, Andrea Salmaggi, Fabrizio Tagliavini, Giorgio Giaccon. Alzheimer neuropathology without frontotemporal lobar degeneration hallmarks (TAR DNA-binding protein 43 inclusions) in missense progranulin mutation Cys139Arg. Brain pathology (Zurich, Switzerland). vol 28. issue 1. 2018-07-31. PMID:27997711. |
they describe two fraternal twins carrying the missense grn cys139arg mutation affected by late-onset dementia and we report the neuropathological study of one of them. |
2018-07-31 |
2023-08-13 |
Not clear |
| Veronica Redaelli, Giacomina Rossi, Emanuela Maderna, Gabor G Kovacs, Elena Piccoli, Paola Caroppo, Francesca Cacciatore, Sonia Spinello, Marina Grisoli, Giuliano Sozzi, Andrea Salmaggi, Fabrizio Tagliavini, Giorgio Giaccon. Alzheimer neuropathology without frontotemporal lobar degeneration hallmarks (TAR DNA-binding protein 43 inclusions) in missense progranulin mutation Cys139Arg. Brain pathology (Zurich, Switzerland). vol 28. issue 1. 2018-07-31. PMID:27997711. |
both patients were examined by neuroimaging, neuropsychological assessment and genetic analysis of grn and other genes associated with dementia. |
2018-07-31 |
2023-08-13 |
Not clear |
| Chris W Lee, Jeannette N Stankowski, Jeannie Chew, Casey N Cook, Ying-Wai Lam, Sandra Almeida, Yari Carlomagno, Kwok-Fai Lau, Mercedes Prudencio, Fen-Biao Gao, Matthew Bogyo, Dennis W Dickson, Leonard Petrucell. The lysosomal protein cathepsin L is a progranulin protease. Molecular neurodegeneration. vol 12. issue 1. 2018-06-12. PMID:28743268. |
haploinsufficiency of grn, the gene encoding progranulin (pgrn), causes frontotemporal lobar degeneration (ftld), the second most common cause of early-onset dementia. |
2018-06-12 |
2023-08-13 |
human |
| 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 |
| 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. |
therefore we investigated whether mapt, grn and c9orf72 gene mutations are major contributors to dementia in a random, unselected 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. |
in summary, a complete screening for mutations in mapt, grn and c9orf72 genes revealed a frequency of 5.4% of pathogenic mutations in a random cohort of 93 turkish index patients with dementia. |
2017-08-02 |
2023-08-13 |
Not clear |
| Foad Taghdiri, Christine Sato, Mahdi Ghani, Danielle Moreno, Ekaterina Rogaeva, Maria Carmela Tartagli. Novel GRN Mutations in Patients with Corticobasal Syndrome. Scientific reports. vol 6. 2017-03-13. PMID:26961809. |
our report extends the evidence for genetic and phenotypic variability in ftld disorders, and detects a novel pathogenic grn mutation, carriers of which could eventually help to evaluate the efficacy of different treatments at early stages of dementia. |
2017-03-13 |
2023-08-13 |
Not clear |
| 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 |
| 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 |