| Publication |
Sentence |
Publish Date |
Extraction Date |
Species |
| 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. |
mapt h1 haplotype is associated with late-onset alzheimer's disease risk in apoeɛ4 noncarriers: results from the dementia genetics spanish consortium. |
2016-09-12 |
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 |
| Marc Ehrlich, Anna-Lena Hallmann, Peter Reinhardt, Marcos J Araúzo-Bravo, Sabrina Korr, Albrecht Röpke, Olympia E Psathaki, Petra Ehling, Sven G Meuth, Adrian L Oblak, Jill R Murrell, Bernardino Ghetti, Holm Zaehres, Hans R Schöler, Jared Sterneckert, Tanja Kuhlmann, Gunnar Hargu. Distinct Neurodegenerative Changes in an Induced Pluripotent Stem Cell Model of Frontotemporal Dementia Linked to Mutant TAU Protein. Stem cell reports. vol 5. issue 1. 2016-05-31. PMID:26143746. |
frontotemporal dementia (ftd) is a frequent form of early-onset dementia and can be caused by mutations in mapt encoding the microtubule-associated protein tau. |
2016-05-31 |
2023-08-13 |
Not clear |
| Pawel Tacik, Michael DeTure, Wen-Lang Lin, Monica Sanchez Contreras, Aleksandra Wojtas, Kelly M Hinkle, Shinsuke Fujioka, Matthew C Baker, Ronald L Walton, Yari Carlomagno, Patricia H Brown, Audrey J Strongosky, Naomi Kouri, Melissa E Murray, Leonard Petrucelli, Keith A Josephs, Rosa Rademakers, Owen A Ross, Zbigniew K Wszolek, Dennis W Dickso. A novel tau mutation, p.K317N, causes globular glial tauopathy. Acta neuropathologica. vol 130. issue 2. 2016-04-12. PMID:25900293. |
sequencing of mapt should be considered in patients with ggt and a family history of dementia or movement disorder. |
2016-04-12 |
2023-08-13 |
Not clear |
| Hannah L Golden, Laura E Downey, Philip D Fletcher, Colin J Mahoney, Jonathan M Schott, Catherine J Mummery, Sebastian J Crutch, Jason D Warre. Identification of environmental sounds and melodies in syndromes of anterior temporal lobe degeneration. Journal of the neurological sciences. vol 352. issue 1-2. 2016-01-27. PMID:25843288. |
here we investigated semantic processing in two key nonverbal auditory domains - environmental sounds and melodies - in patients with semantic dementia (sd group; n=9) and in patients with anterior temporal lobe atrophy presenting with behavioural decline (tl group; n=7, including four cases with mapt mutations) in relation to healthy older controls (n=20). |
2016-01-27 |
2023-08-13 |
Not clear |
| Sophie E Winder-Rhodes, Adam Hampshire, James B Rowe, Jonathan E Peelle, Trevor W Robbins, Adrian M Owen, Roger A Barke. Association between MAPT haplotype and memory function in patients with Parkinson's disease and healthy aging individuals. Neurobiology of aging. vol 36. issue 3. 2015-11-24. PMID:25577413. |
these results suggest that common variation in mapt is not only associated with the dementia of pd but also differences in the neural circuitry underlying aspects of cognition in normal aging. |
2015-11-24 |
2023-08-13 |
human |
| Celeste Sassi, Rita Guerreiro, Raphael Gibbs, Jinhui Ding, Michelle K Lupton, Claire Troakes, Safa Al-Sarraj, Michael Niblock, Jean-Marc Gallo, Jihad Adnan, Richard Killick, Kristelle S Brown, Christopher Medway, Jenny Lord, James Turton, Jose Bras, Kevin Morgan, John F Powell, Andrew Singleton, John Hard. Investigating the role of rare coding variability in Mendelian dementia genes (APP, PSEN1, PSEN2, GRN, MAPT, and PRNP) in late-onset Alzheimer's disease. Neurobiology of aging. vol 35. issue 12. 2015-11-09. PMID:25104557. |
investigating the role of rare coding variability in mendelian dementia genes (app, psen1, psen2, grn, mapt, and prnp) in late-onset alzheimer's disease. |
2015-11-09 |
2023-08-13 |
Not clear |
| Celeste Sassi, Rita Guerreiro, Raphael Gibbs, Jinhui Ding, Michelle K Lupton, Claire Troakes, Safa Al-Sarraj, Michael Niblock, Jean-Marc Gallo, Jihad Adnan, Richard Killick, Kristelle S Brown, Christopher Medway, Jenny Lord, James Turton, Jose Bras, Kevin Morgan, John F Powell, Andrew Singleton, John Hard. Investigating the role of rare coding variability in Mendelian dementia genes (APP, PSEN1, PSEN2, GRN, MAPT, and PRNP) in late-onset Alzheimer's disease. Neurobiology of aging. vol 35. issue 12. 2015-11-09. PMID:25104557. |
to investigate this intriguing hypothesis, we analyzed rare coding variability in 6 mendelian dementia genes (app, psen1, psen2, grn, mapt, and prnp), in 141 load patients and 179 elderly controls, neuropathologically proven, from the uk. |
2015-11-09 |
2023-08-13 |
Not clear |
| Chiho Ishida, Katsuji Kobayashi, Tatsuru Kitamura, Hiroshi Ujike, Kazuo Iwasa, Masahito Yamad. Frontotemporal dementia with parkinsonism linked to chromosome 17 with the MAPT R406W mutation presenting with a broad distribution of abundant senile plaques. Neuropathology : official journal of the Japanese Society of Neuropathology. vol 35. issue 1. 2015-09-14. PMID:25377499. |
we report the autopsy results of a patient with familial dementia who was diagnosed as having frontotemporal dementia with parkinsonism linked to chromosome 17 (ftdp-17) with an r406w mutation in the microtubule-associated protein tau (mapt) gene. |
2015-09-14 |
2023-08-13 |
Not clear |
| Kacie D Deters, Shannon L Risacher, Martin R Farlow, Frederick W Unverzagt, David A Kareken, Gary D Hutchins, Karmen K Yoder, Jill R Murrell, Salvatore Spina, Francine Epperson, Sujuan Gao, Andrew J Saykin, Bernardino Ghett. Cerebral hypometabolism and grey matter density in MAPT intron 10 +3 mutation carriers. American journal of neurodegenerative disease. vol 3. issue 3. 2015-01-28. PMID:25628962. |
multiple systems tauopathy with presenile dementia (mstd), a form of frontotemporal dementia with parkinsonism-17 with tau inclusions (ftdp-17t), is a neurodegenerative disorder caused by an (a) to (g) transition at position +3 of intron 10 of the microtubule associated protein tau (mapt) gene. |
2015-01-28 |
2023-08-13 |
human |
| Brit Mollenhauer, Lynn Rochester, Alice Chen-Plotkin, David Brook. What can biomarkers tell us about cognition in Parkinson's disease? Movement disorders : official journal of the Movement Disorder Society. vol 29. issue 5. 2014-12-19. PMID:24757111. |
in addition, genetic variation in the apolipoprotein e (apoe), catechol-o-methyltransferase (comt), microtubule-associated protein tau (mapt), and glucocerebrosidase (gba) genes may confer risk for cognitive impairment in pd; and gait disturbance may also indicate an increased risk for dementia. |
2014-12-19 |
2023-08-13 |
Not clear |
| David Peterson, Caitlin Munger, Jared Crowley, Chris Corcoran, Carlos Cruchaga, Alison M Goate, Maria C Norton, Robert C Green, Ronald G Munger, John C S Breitner, Kathleen A Welsh-Bohmer, Constantine Lyketsos, Joann Tschanz, John S K Kauw. Variants in PPP3R1 and MAPT are associated with more rapid functional decline in Alzheimer's disease: the Cache County Dementia Progression Study. Alzheimer's & dementia : the journal of the Alzheimer's Association. vol 10. issue 3. 2014-12-10. PMID:23727081. |
variants in ppp3r1 and mapt are associated with more rapid functional decline in alzheimer's disease: the cache county dementia progression study. |
2014-12-10 |
2023-08-12 |
Not clear |
| Regina M Carney, Martin A Kohli, Brian W Kunkle, Adam C Naj, John R Gilbert, Stephan Züchner, Margaret A Pericak-Vanc. Parkinsonism and distinct dementia patterns in a family with the MAPT R406W mutation. Alzheimer's & dementia : the journal of the Alzheimer's Association. vol 10. issue 3. 2014-12-10. PMID:23727082. |
parkinsonism and distinct dementia patterns in a family with the mapt r406w mutation. |
2014-12-10 |
2023-08-12 |
Not clear |
| Regina M Carney, Martin A Kohli, Brian W Kunkle, Adam C Naj, John R Gilbert, Stephan Züchner, Margaret A Pericak-Vanc. Parkinsonism and distinct dementia patterns in a family with the MAPT R406W mutation. Alzheimer's & dementia : the journal of the Alzheimer's Association. vol 10. issue 3. 2014-12-10. PMID:23727082. |
the arg406trp (r406w) missense mutation in the microtubule-associated protein-tau gene (mapt) is a known cause of early-onset dementia. |
2014-12-10 |
2023-08-12 |
Not clear |
| Bushra Imtiaz, Anna-Maija Tolppanen, Miia Kivipelto, Hilkka Soinine. Future directions in Alzheimer's disease from risk factors to prevention. Biochemical pharmacology. vol 88. issue 4. 2014-05-19. PMID:24418410. |
at the moment, it includes three large ongoing european trials: finnish geriatric intervention study to prevent cognitive impairment and disability (finger), prevention of dementia by intensive vascular care (prediva), and multidomain alzheimer prevention study (mapt). |
2014-05-19 |
2023-08-12 |
Not clear |
| Clement T Loy, Peter R Schofield, Anne M Turner, John B J Kwo. Genetics of dementia. Lancet (London, England). vol 383. issue 9919. 2014-03-11. PMID:23927914. |
in this review, we focus on the evidence for, and the approach to, genetic testing in alzheimer's disease (app, psen1, and psen2 genes), frontotemporal dementia (mapt, grn, c9orf72, and other genes), and other familial dementias. |
2014-03-11 |
2023-08-12 |
Not clear |
| Futao Zhou, Shuangrong Chen, Xuechuan Su. [Research progress of abnormal phosphorylation of microtubule-associated tau protein and of the targeted inhibition of the phosphorylation]. Sheng wu yi xue gong cheng xue za zhi = Journal of biomedical engineering = Shengwu yixue gongchengxue zazhi. vol 29. issue 4. 2013-10-31. PMID:23016437. |
progressive dementia is described as the first and most prominent symptom of alzheimer's disease (ad), and hyperphosphorylation of microtubule associated tau protein (mapt) plays a key role in neurodegeneration and neuronal dysfunction in ad and other neurodegenerative diseases. |
2013-10-31 |
2023-08-12 |
Not clear |
| David J Irwin, Todd J Cohen, Murray Grossman, Steven E Arnold, Elisabeth McCarty-Wood, Vivianna M Van Deerlin, Virginia M-Y Lee, John Q Trojanowsk. Acetylated tau neuropathology in sporadic and hereditary tauopathies. The American journal of pathology. vol 183. issue 2. 2013-10-24. PMID:23885714. |
thirty brain regions were examined in argyrophilic grain disease (agd; n = 5), tangle-predominant senile dementia (tpsd; n = 5), pick disease (n = 4), familial ad (fad; n = 2; psen1 p.g206a and p.s170p), and frontotemporal dementia with parkinsonism linked to chromosome-17 (ftdp-17; n = 2; mapt p.p301l and ivs10 + 16). |
2013-10-24 |
2023-08-12 |
Not clear |
| Maria Grazia Spillantini, Michel Goeder. Tau pathology and neurodegeneration. The Lancet. Neurology. vol 12. issue 6. 2013-07-22. PMID:23684085. |
dominantly inherited mutations in mapt, the gene that encodes tau, cause forms of frontotemporal dementia and parkinsonism, proving that dysfunction of tau is sufficient to cause neurodegeneration and dementia. |
2013-07-22 |
2023-08-12 |
human |