| Publication |
Sentence |
Publish Date |
Extraction Date |
Species |
| 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 |
| 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 |
| 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 |
| Kimiko Domoto-Reilly, Marie Y Davis, C Dirk Keene, Thomas D Bir. Unusually long duration and delayed penetrance in a family with FTD and mutation in MAPT (V337M). American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics. vol 174. issue 1. 2017-08-21. PMID:26990251. |
mutations in the mapt gene coding for the tau protein are one of the most common causes of familial frontotemporal dementia (ftd). |
2017-08-21 |
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 |
| Katerina Markopoulou, Bruce A Chase, Piotr Robowski, Audrey Strongosky, Ewa Narożańska, Emilia J Sitek, Mariusz Berdynski, Maria Barcikowska, Matt C Baker, Rosa Rademakers, Jarosław Sławek, Christine Klein, Katja Hückelheim, Meike Kasten, Zbigniew K Wszole. Assessment of Olfactory Function in MAPT-Associated Neurodegenerative Disease Reveals Odor-Identification Irreproducibility as a Non-Disease-Specific, General Characteristic of Olfactory Dysfunction. PloS one. vol 11. issue 11. 2017-06-26. PMID:27855167. |
we evaluated olfactory dysfunction in 28 carriers of two mapt mutations (p.n279k, p.p301l), which cause frontotemporal dementia with parkinsonism, using the university of pennsylvania smell identification test. |
2017-06-26 |
2023-08-13 |
Not clear |
| 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 |
| Ana Lopez, Suzee E Lee, Kevin Wojta, Eliana Marisa Ramos, Eric Klein, Jason Chen, Adam L Boxer, Maria Luisa Gorno-Tempini, Daniel H Geschwind, Lars Schlotawa, Nikolay V Ogryzko, Eileen H Bigio, Emily Rogalski, Sandra Weintraub, Marsel M Mesulam, Angeleen Fleming, Giovanni Coppola, Bruce L Miller, David C Rubinsztei. A152T tau allele causes neurodegeneration that can be ameliorated in a zebrafish model by autophagy induction. Brain : a journal of neurology. vol 140. issue 4. 2017-04-25. PMID:28334843. |
mutations in the gene encoding tau (mapt) cause frontotemporal dementia spectrum disorders. |
2017-04-25 |
2023-08-13 |
human |
| Mikkel A Rasmussen, Lena E Hjermind, Lis F Hasholt, Gunhild Waldemar, Jørgen E Nielsen, Christian Clausen, Poul Hyttel, Bjørn Hols. Induced pluripotent stem cells (iPSCs) derived from a patient with frontotemporal dementia caused by a P301L mutation in microtubule-associated protein tau (MAPT). Stem cell research. vol 16. issue 1. 2016-12-13. PMID:27345788. |
induced pluripotent stem cells (ipscs) derived from a patient with frontotemporal dementia caused by a p301l mutation in microtubule-associated protein tau (mapt). |
2016-12-13 |
2023-08-13 |
Not clear |
| Mikkel A Rasmussen, Lena E Hjermind, Lis F Hasholt, Gunhild Waldemar, Jørgen E Nielsen, Christian Clausen, Poul Hyttel, Bjørn Hols. Induced pluripotent stem cells (iPSCs) derived from a patient with frontotemporal dementia caused by a R406W mutation in microtubule-associated protein tau (MAPT). Stem cell research. vol 16. issue 1. 2016-12-13. PMID:27345789. |
induced pluripotent stem cells (ipscs) derived from a patient with frontotemporal dementia caused by a r406w mutation in microtubule-associated protein tau (mapt). |
2016-12-13 |
2023-08-13 |
Not clear |
| Mikkel A Rasmussen, Lena E Hjermind, Lis F Hasholt, Gunhild Waldemar, Jørgen E Nielsen, Christian Clausen, Poul Hyttel, Bjørn Hols. Induced pluripotent stem cells (iPSCs) derived from a pre-symptomatic carrier of a R406W mutation in microtubule-associated protein tau (MAPT) causing frontotemporal dementia. Stem cell research. vol 16. issue 1. 2016-12-13. PMID:27345791. |
induced pluripotent stem cells (ipscs) derived from a pre-symptomatic carrier of a r406w mutation in microtubule-associated protein tau (mapt) causing frontotemporal dementia. |
2016-12-13 |
2023-08-13 |
Not clear |
| Mikkel A Rasmussen, Lena E Hjermind, Lis F Hasholt, Gunhild Waldemar, Jørgen E Nielsen, Christian Clausen, Poul Hyttel, Bjørn Hols. Induced pluripotent stem cells (iPSCs) derived from a pre-symptomatic carrier of a R406W mutation in microtubule-associated protein tau (MAPT) causing frontotemporal dementia. Stem cell research. vol 16. issue 1. 2016-12-13. PMID:27345791. |
skin fibroblasts were obtained from a 28-year-old pre-symptomatic woman carrying a r406w mutation in microtubule-associated protein tau (mapt), known to cause frontotemporal dementia. |
2016-12-13 |
2023-08-13 |
Not clear |
| Pau Pastor, Fermín Moreno, Jordi Clarimón, Agustín Ruiz, Onofre Combarros, Miguel Calero, Adolfo López de Munain, Maria J Bullido, Marian M de Pancorbo, Eva Carro, Anna Antonell, Eliecer Coto, Sara Ortega-Cubero, Isabel Hernandez, Lluís Tárraga, Mercè Boada, Alberto Lleó, Oriol Dols-Icardo, Jaime Kulisevsky, José Luis Vázquez-Higuera, Jon Infante, Alberto Rábano, Miguel Ángel Fernández-Blázquez, Meritxell Valentí, Begoña Indakoetxea, Myriam Barandiarán, Ana Gorostidi, Ana Frank-García, Isabel Sastre, Elena Lorenzo, María A Pastor, Xabier Elcoroaristizabal, Martina Lennarz, Wolfang Maier, Alfredo Rámirez, Manuel Serrano-Ríos, Suzee E Lee, Pascual Sánchez-Jua. MAPT H1 Haplotype is Associated with Late-Onset Alzheimer's Disease Risk in APOEɛ4 Noncarriers: Results from the Dementia Genetics Spanish Consortium. Journal of Alzheimer's disease : JAD. vol 49. issue 2. 2016-09-12. PMID:26444794. |
a rare variant in mapt (p.a152t) has been linked with frontotemporal dementia (ftd) and ad. |
2016-09-12 |
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. |
distinct clinical and pathological phenotypes in frontotemporal dementia associated with mapt, pgrn and c9orf72 mutations. |
2016-08-31 |
2023-08-13 |
Not clear |
| 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 |
| Shabab B Hannan, Nina M Dräger, Tobias M Rasse, Aaron Voigt, Thomas R Jah. Cellular and molecular modifier pathways in tauopathies: the big picture from screening invertebrate models. Journal of neurochemistry. vol 137. issue 1. 2016-08-15. PMID:26756400. |
abnormal tau accumulations were observed and documented in post-mortem brains of patients affected by alzheimer's disease (ad) long before the identification of mutations in the microtubule-associated protein tau (mapt) gene, encoding the tau protein, in a different neurodegenerative disease called frontotemporal dementia and parkinsonism linked to chromosome 17 (ftdp-17). |
2016-08-15 |
2023-08-13 |
human |
| 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 |
| 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 |
| Teresa Sposito, Elisavet Preza, Colin J Mahoney, Núria Setó-Salvia, Natalie S Ryan, Huw R Morris, Charles Arber, Michael J Devine, Henry Houlden, Thomas T Warner, Trevor J Bushell, Michele Zagnoni, Tilo Kunath, Frederick J Livesey, Nick C Fox, Martin N Rossor, John Hardy, Selina Wra. Developmental regulation of tau splicing is disrupted in stem cell-derived neurons from frontotemporal dementia patients with the 10 + 16 splice-site mutation in MAPT. Human molecular genetics. vol 24. issue 18. 2016-05-31. PMID:26136155. |
developmental regulation of tau splicing is disrupted in stem cell-derived neurons from frontotemporal dementia patients with the 10 + 16 splice-site mutation in mapt. |
2016-05-31 |
2023-08-13 |
human |