| Publication |
Sentence |
Publish Date |
Extraction Date |
Species |
| Parastoo Momeni, Mirdhu M Wickremaratchi, Jason Bell, Richard Arnold, Roger Beer, John Hardy, Tamas Revesz, James W Neal, Huw R Morri. Familial early onset frontotemporal dementia caused by a novel S356T MAPT mutation, initially diagnosed as schizophrenia. Clinical neurology and neurosurgery. vol 112. issue 10. 2011-02-08. PMID:20708332. |
we report a novel exon 12 mutation in mapt (s356t), in a family with an exceptionally early age at onset (27 and 29 years), causing familial behavioural variant frontotemporal dementia. |
2011-02-08 |
2023-08-12 |
Not clear |
| Anne Rovelet-Lecrux, Didier Hannequin, Olivier Guillin, Solenn Legallic, Snejana Jurici, David Wallon, Thierry Frebourg, Dominique Campio. Frontotemporal dementia phenotype associated with MAPT gene duplication. Journal of Alzheimer's disease : JAD. vol 21. issue 3. 2011-01-18. PMID:20634582. |
frontotemporal dementia phenotype associated with mapt gene duplication. |
2011-01-18 |
2023-08-12 |
mouse |
| Todd E Golde, Leonard Petrucelli, Jada Lewi. Targeting Abeta and tau in Alzheimer's disease, an early interim report. Experimental neurology. vol 223. issue 2. 2010-07-01. PMID:19716367. |
similarly, genetic studies of frontotemporal dementia with parkinsonism linked to chromosome 17 (ftdp-17 mapt) showing that mutations in the mapt gene encoding tau lead to abnormal tau accumulation and neurodegeneration. |
2010-07-01 |
2023-08-12 |
Not clear |
| Hiroshige Fujishiro, Masato Hasegawa, Tetsuaki Ara. [The molecular pathology of frontotemporal lobar degeneration]. Seishin shinkeigaku zasshi = Psychiatria et neurologia Japonica. vol 112. issue 4. 2010-06-22. PMID:20496755. |
familial ftld has been linked to mutations in several genes: the microtubule-associated protein tau (mapt), progranulin (grn), valosin-containing protein (vcp) and charged multivescicular body protein 2b (chmp2b), and genetic locus on chromosome 9p linked to familial amyotrophic lateral sclerosis (als) and frontotemporal dementia. |
2010-06-22 |
2023-08-12 |
Not clear |
| I Taes, A Goris, R Lemmens, M A van Es, L H van den Berg, A Chio, B J Traynor, A Birve, P Andersen, A Slowik, B Tomik, R H Brown, C E Shaw, A Al-Chalabi, S Boonen, L Van Den Bosch, B Dubois, P Van Damme, W Robberech. Tau levels do not influence human ALS or motor neuron degeneration in the SOD1G93A mouse. Neurology. vol 74. issue 21. 2010-06-15. PMID:20498436. |
mutations in the tau coding gene mapt are a cause of frontotemporal dementia, and the h1/h1 genotype of mapt, giving rise to higher tau expression levels, is associated with progressive supranuclear palsy, corticobasal degeneration, and parkinson disease (pd). |
2010-06-15 |
2023-08-12 |
mouse |
| Maura Gallo, Carmine Tomaino, Gianfranco Puccio, Francesca Frangipane, Sabrina A M Curcio, Livia Bernardi, Silvana Geracitano, Maria Anfossi, Maria Mirabelli, Rosanna Colao, Franca Vasso, Nicoletta Smirne, Raffaele G Maletta, Amalia Cecilia Brun. Novel MAPT Val75Ala mutation and PSEN2 Arg62Hys in two siblings with frontotemporal dementia. Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology. vol 31. issue 1. 2010-04-13. PMID:19768372. |
novel mapt val75ala mutation and psen2 arg62hys in two siblings with frontotemporal dementia. |
2010-04-13 |
2023-08-12 |
Not clear |
| A J Larne. Intrafamilial clinical phenotypic heterogeneity with MAPT gene splice site IVS10+16C>T mutation. Journal of the neurological sciences. vol 287. issue 1-2. 2010-02-12. PMID:19766248. |
two families with frontotemporal dementia with parkinsonism linked to chromosome 17 (ftdp-17) resulting from the microtubule associated protein tau (mapt) gene ivs10+16c>t splice site mutation are reported, members of which showed variable clinical phenotypes at presentation. |
2010-02-12 |
2023-08-12 |
Not clear |
| Yoshio Tsubo. [Clinical, pathological, and genetic characteristics of frontotemporal dementia and parkinsonism linked to chromosome 17 with mutations in the MAPT and PGRN]. Brain and nerve = Shinkei kenkyu no shinpo. vol 61. issue 11. 2010-01-21. PMID:19938685. |
[clinical, pathological, and genetic characteristics of frontotemporal dementia and parkinsonism linked to chromosome 17 with mutations in the mapt and pgrn]. |
2010-01-21 |
2023-08-12 |
Not clear |
| Yoshio Tsubo. [Clinical, pathological, and genetic characteristics of frontotemporal dementia and parkinsonism linked to chromosome 17 with mutations in the MAPT and PGRN]. Brain and nerve = Shinkei kenkyu no shinpo. vol 61. issue 11. 2010-01-21. PMID:19938685. |
we reviewed the clinical, neuropathological, and genetic findings in patients with frontotemporal dementia and parkinsonism linked to chromosome 17 (ftdp-17) with mutations in microtubule-associated protein tau (mapt) and progranulin (pgrn). |
2010-01-21 |
2023-08-12 |
Not clear |
| Teresa Rodriguez-Martin, Karen Anthony, Mariano A Garcia-Blanco, S Gary Mansfield, Brian H Anderton, Jean-Marc Gall. Correction of tau mis-splicing caused by FTDP-17 MAPT mutations by spliceosome-mediated RNA trans-splicing. Human molecular genetics. vol 18. issue 17. 2009-11-02. PMID:19498037. |
frontotemporal dementia with parkinsonism linked to chromosome 17 (ftdp-17) is caused by mutations in the mapt gene, encoding the tau protein that accumulates in intraneuronal lesions in a number of neurodegenerative diseases. |
2009-11-02 |
2023-08-12 |
Not clear |
| Anna Kowalsk. [The genetics of dementias. Part 1: Molecular basis of frontotemporal dementia and parkinsonism linked to chromosome 17 (FTDP-17)]. Postepy higieny i medycyny doswiadczalnej (Online). vol 63. 2009-10-27. PMID:19535823. |
the fi rst mutations in the mapt gene responsible for frontotemporal dementia and parkinsonism linked to chromosome 17 (ftdp-17) were found in 1998. |
2009-10-27 |
2023-08-12 |
human |
| Jana Vandrovcova, Alan M Pittman, Elke Malzer, Patrick M Abou-Sleiman, Andrew J Lees, Nicholas W Wood, Rohan de Silv. Association of MAPT haplotype-tagging SNPs with sporadic Parkinson's disease. Neurobiology of aging. vol 30. issue 9. 2009-10-09. PMID:18162161. |
mutations in the tau gene (mapt) have been found in families with frontotemporal dementia with parkinsonism linked to chromosome 17. |
2009-10-09 |
2023-08-12 |
Not clear |
| Anne Rovelet-Lecrux, Magalie Lecourtois, Catherine Thomas-Anterion, Isabelle Le Ber, Alexis Brice, Thierry Frebourg, Didier Hannequin, Dominique Campio. Partial deletion of the MAPT gene: a novel mechanism of FTDP-17. Human mutation. vol 30. issue 4. 2009-07-06. PMID:19263483. |
a heterozygous genomic deletion removing exons 6 to 9 of the microtubule associated protein tau (mapt) gene, predicting to result into a truncated protein lacking the first microtubule binding domain, was detected in a patient with frontotemporal dementia (ftd). |
2009-07-06 |
2023-08-12 |
Not clear |
| Elisa Canu, Marina Boccardi, Roberta Ghidoni, Luisa Benussi, Cristina Testa, Michela Pievani, Matteo Bonetti, Giuliano Binetti, Giovanni B Frison. H1 haplotype of the MAPT gene is associated with lower regional gray matter volume in healthy carriers. European journal of human genetics : EJHG. vol 17. issue 3. 2009-04-23. PMID:18854867. |
recent studies have detected an over-representation of the h1 haplotype of the mapt gene in neurodegenerative disorders such as progressive supranuclear palsy (psp), corticobasal degeneration (cbd), frontotemporal dementia (ftd) and parkinson's disease (pd), whereas the h2 haplotype has been found to be related to familial ftd. |
2009-04-23 |
2023-08-12 |
human |
| Gabor G Kovacs, Alan Pittman, Tamas Revesz, Connie Luk, Andrew Lees, Eva Kiss, Peter Tariska, Lajos Laszlo, Kinga Molnár, Maria J Molnar, Markus Tolnay, Rohan de Silv. MAPT S305I mutation: implications for argyrophilic grain disease. Acta neuropathologica. vol 116. issue 1. 2008-10-14. PMID:18066559. |
frontotemporal lobar degeneration (ftld) with mutations in the tau gene (mapt) causes familial frontotemporal dementia with tau pathology. |
2008-10-14 |
2023-08-12 |
Not clear |
| Peter Stoilov, Chia-Ho Lin, Robert Damoiseaux, Julia Nikolic, Douglas L Blac. A high-throughput screening strategy identifies cardiotonic steroids as alternative splicing modulators. Proceedings of the National Academy of Sciences of the United States of America. vol 105. issue 32. 2008-09-16. PMID:18678901. |
we used microtubule-associated protein tau (mapt) exon 10, whose missplicing causes frontotemporal dementia, to test the reporter in screening libraries of known bioactive compounds. |
2008-09-16 |
2023-08-12 |
human |
| S M Laws, P Friedrich, J Diehl-Schmid, J Müller, B Ibach, J Bäuml, T Eisele, H Förstl, A Kurz, M Riemenschneide. Genetic analysis of MAPT haplotype diversity in frontotemporal dementia. Neurobiology of aging. vol 29. issue 8. 2008-08-21. PMID:17386961. |
genetic analysis of mapt haplotype diversity in frontotemporal dementia. |
2008-08-21 |
2023-08-12 |
Not clear |
| S M Laws, P Friedrich, J Diehl-Schmid, J Müller, B Ibach, J Bäuml, T Eisele, H Förstl, A Kurz, M Riemenschneide. Genetic analysis of MAPT haplotype diversity in frontotemporal dementia. Neurobiology of aging. vol 29. issue 8. 2008-08-21. PMID:17386961. |
the h1 haplotype of the tau gene, mapt, has been linked to the sporadic tauopathies corticobasal degeneration and progressive supranuclear palsy; however, there have been inconsistent findings regarding association with frontotemporal dementia (ftd). |
2008-08-21 |
2023-08-12 |
Not clear |
| Giacomina Rossi, Cecilia Marelli, Laura Farina, Matilde Laurà, Anna Maria Basile, Claudia Ciano, Fabrizio Tagliavini, Davide Pareyso. The G389R mutation in the MAPT gene presenting as sporadic corticobasal syndrome. Movement disorders : official journal of the Movement Disorder Society. vol 23. issue 6. 2008-08-06. PMID:18307268. |
a few patients with mutations in the microtubule-associated protein tau gene (mapt), affected by frontotemporal dementia and parkinsonism linked to chromosome 17 (ftdp-17t), may clinically present with a corticobasal syndrome (cbs). |
2008-08-06 |
2023-08-12 |
Not clear |
| Giacomina Rossi, Cecilia Marelli, Laura Farina, Matilde Laurà, Anna Maria Basile, Claudia Ciano, Fabrizio Tagliavini, Davide Pareyso. The G389R mutation in the MAPT gene presenting as sporadic corticobasal syndrome. Movement disorders : official journal of the Movement Disorder Society. vol 23. issue 6. 2008-08-06. PMID:18307268. |
we report a case of apparently sporadic cbs bearing a mutation in the mapt gene so far associated with frontotemporal dementia (ftd) phenotype. |
2008-08-06 |
2023-08-12 |
Not clear |