| Publication |
Sentence |
Publish Date |
Extraction Date |
Species |
| Esther N Bit-Ivan, Eunran Suh, Hyung-Sub Shim, Sandra Weintraub, Bradley T Hyman, Steven E Arnold, Elisabeth McCarty-Wood, Viviana M Van Deerlin, Julie A Schneider, John Q Trojanowski, Matthew P Frosch, Matt C Baker, Rosa Rademakers, Marsel Mesulam, Eileen H Bigi. A novel GRN mutation (GRN c.708+6_+9delTGAG) in frontotemporal lobar degeneration with TDP-43-positive inclusions: clinicopathologic report of 6 cases. Journal of neuropathology and experimental neurology. vol 73. issue 5. 2014-06-05. PMID:24709683. |
mutations in 7 known genes (mapt, grn, c9orf72, vcp, chmp2b, and, rarely, tardbp and fus) are associated with frontotemporal dementia, and the pathologic classification of frontotemporal lobar degeneration has recently been modified to reflect these discoveries. |
2014-06-05 |
2023-08-13 |
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 |
| Andreas Puschman. Monogenic Parkinson's disease and parkinsonism: clinical phenotypes and frequencies of known mutations. Parkinsonism & related disorders. vol 19. issue 4. 2013-09-06. PMID:23462481. |
changes in a long list of additional genes have been suggested as causes for parkinsonism or pd, including genes for hereditary ataxias (atxn2, atxn3, fmr1), frontotemporal dementia (c9orf72, grn, mapt, tardbp), dyt5 (gch1, th, spr), and others (atp13a2, csf1r, dnajc6, fbxo, gigyf2, htra2, pla2g6, polg, spg11, uchl1). |
2013-09-06 |
2023-08-12 |
Not clear |
| Tim Van Langenhove, Julie van der Zee, Ilse Gijselinck, Sebastiaan Engelborghs, Rik Vandenberghe, Mathieu Vandenbulcke, Jan De Bleecker, Anne Sieben, Jan Versijpt, Adrian Ivanoiu, Olivier Deryck, Christiana Willems, Lubina Dillen, Stéphanie Philtjens, Githa Maes, Veerle Bäumer, Marleen Van Den Broeck, Maria Mattheijssens, Karin Peeters, Jean-Jacques Martin, Alex Michotte, Patrick Santens, Peter De Jonghe, Patrick Cras, Peter P De Deyn, Marc Cruts, Christine Van Broeckhove. Distinct clinical characteristics of C9orf72 expansion carriers compared with GRN, MAPT, and nonmutation carriers in a Flanders-Belgian FTLD cohort. JAMA neurology. vol 70. issue 3. 2013-04-29. PMID:23338682. |
to characterize patients with frontotemporal lobar degeneration (ftld) with a repeat expansion mutation in the gene c9orf72, and to determine whether there are differences in the clinical presentation compared with ftld carriers of a mutation in grn or mapt or with patients with ftld without mutation. |
2013-04-29 |
2023-08-12 |
Not clear |
| Petra E Cohn-Hokke, Mariet W Elting, Yolande A L Pijnenburg, John C van Swiete. Genetics of dementia: update and guidelines for the clinician. American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics. vol 159B. issue 6. 2013-04-09. PMID:22815225. |
familial frontotemporal dementia may be associated with a mutation in the mapt or grn gene, or with a repeat expansion in the c9orf72 gene. |
2013-04-09 |
2023-08-12 |
Not clear |
| Sheng Chih Jin, Pau Pastor, Breanna Cooper, Sebastian Cervantes, Bruno A Benitez, Cristina Razquin, Alison Goate, Carlos Cruchag. Pooled-DNA sequencing identifies novel causative variants in PSEN1, GRN and MAPT in a clinical early-onset and familial Alzheimer's disease Ibero-American cohort. Alzheimer's research & therapy. vol 4. issue 4. 2012-11-29. PMID:22906081. |
pooled-dna sequencing identifies novel causative variants in psen1, grn and mapt in a clinical early-onset and familial alzheimer's disease ibero-american cohort. |
2012-11-29 |
2023-08-12 |
human |
| Sheng Chih Jin, Pau Pastor, Breanna Cooper, Sebastian Cervantes, Bruno A Benitez, Cristina Razquin, Alison Goate, Carlos Cruchag. Pooled-DNA sequencing identifies novel causative variants in PSEN1, GRN and MAPT in a clinical early-onset and familial Alzheimer's disease Ibero-American cohort. Alzheimer's research & therapy. vol 4. issue 4. 2012-11-29. PMID:22906081. |
mutations in grn and mapt, two genes associated with frontotemporal dementia (ftd), have been found in clinically diagnosed ad cases. |
2012-11-29 |
2023-08-12 |
human |
| Ikuko Aib. [Corticobasal syndrome: recent advances and future directions]. Brain and nerve = Shinkei kenkyu no shinpo. vol 64. issue 4. 2012-06-21. PMID:22481519. |
the most frequent causes of cbs are cbd, followed by alzheimer's disease, progressive supranuclear palsy, frontotemporal lobar degeneration with tdp-43 pathology (sporadic and familial), pick's disease, lewy body disease, frontotemporal lobar degeneration with fused in sarcoma-positive inclusions, creutzfeldt-jakob disease, and mutations in the microtubule-associated protein tau (mapt) and progranulin (grn) genes. |
2012-06-21 |
2023-08-12 |
Not clear |
| Carlos Cruchaga, Gabe Haller, Sumitra Chakraverty, Kevin Mayo, Francesco L M Vallania, Robi D Mitra, Kelley Faber, Jennifer Williamson, Tom Bird, Ramon Diaz-Arrastia, Tatiana M Foroud, Bradley F Boeve, Neill R Graff-Radford, Pamela St Jean, Michael Lawson, Margaret G Ehm, Richard Mayeux, Alison M Goat. Rare variants in APP, PSEN1 and PSEN2 increase risk for AD in late-onset Alzheimer's disease families. PloS one. vol 7. issue 2. 2012-06-14. PMID:22312439. |
pathogenic mutations in app, psen1, psen2, mapt and grn have previously been linked to familial early onset forms of dementia. |
2012-06-14 |
2023-08-12 |
Not clear |
| J L Whitwell, S D Weigand, J L Gunter, B F Boeve, R Rademakers, M Baker, D S Knopman, Z K Wszolek, R C Petersen, C R Jack, K A Joseph. Trajectories of brain and hippocampal atrophy in FTD with mutations in MAPT or GRN. Neurology. vol 77. issue 4. 2011-09-27. PMID:21753165. |
trajectories of brain and hippocampal atrophy in ftd with mutations in mapt or grn. |
2011-09-27 |
2023-08-12 |
human |
| J L Whitwell, S D Weigand, J L Gunter, B F Boeve, R Rademakers, M Baker, D S Knopman, Z K Wszolek, R C Petersen, C R Jack, K A Joseph. Trajectories of brain and hippocampal atrophy in FTD with mutations in MAPT or GRN. Neurology. vol 77. issue 4. 2011-09-27. PMID:21753165. |
to use multiple serial mri to assess rates and trajectories of brain and hippocampal atrophy in subjects with frontotemporal dementia (ftd) with progranulin (grn) or microtubule-associated protein tau (mapt) gene mutations. |
2011-09-27 |
2023-08-12 |
human |
| Jonathan D Rohrer, Gerard R Ridgway, Marc Modat, Sebastien Ourselin, Simon Mead, Nick C Fox, Martin N Rossor, Jason D Warre. Distinct profiles of brain atrophy in frontotemporal lobar degeneration caused by progranulin and tau mutations. NeuroImage. vol 53. issue 3. 2011-01-03. PMID:20045477. |
additional disease-specific profiles of grey and white matter loss were identified on both cross-sectional and longitudinal imaging: grn mutations were associated with asymmetrical inferior frontal, temporal and inferior parietal lobe grey matter atrophy and involvement of long intrahemispheric association white matter tracts, whereas mapt mutations were associated with symmetrical anteromedial temporal lobe and orbitofrontal grey matter atrophy and fornix involvement. |
2011-01-03 |
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 |