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A novel compound heterozygous mutation in TREM2 found in a Turkish frontotemporal dementia-like family()
Triggering receptor expressed on myeloid cells 2 (TREM2) homozygous mutations cause Nasu-Hakola disease, an early-onset recessive form of dementia preceded by bone cysts and fractures. The same type of mutations has recently been shown to cause frontotemporal dementia (FTD) without the presence of a...
| Autores principales: | , , , , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Elsevier
2013
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3898264/ https://www.ncbi.nlm.nih.gov/pubmed/23870839 http://dx.doi.org/10.1016/j.neurobiolaging.2013.06.005 |
| _version_ | 1782300394319249408 |
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| author | Guerreiro, Rita Bilgic, Basar Guven, Gamze Brás, José Rohrer, Jonathan Lohmann, Ebba Hanagasi, Hasmet Gurvit, Hakan Emre, Murat |
| author_facet | Guerreiro, Rita Bilgic, Basar Guven, Gamze Brás, José Rohrer, Jonathan Lohmann, Ebba Hanagasi, Hasmet Gurvit, Hakan Emre, Murat |
| author_sort | Guerreiro, Rita |
| collection | PubMed |
| description | Triggering receptor expressed on myeloid cells 2 (TREM2) homozygous mutations cause Nasu-Hakola disease, an early-onset recessive form of dementia preceded by bone cysts and fractures. The same type of mutations has recently been shown to cause frontotemporal dementia (FTD) without the presence of any bone phenotype. Here, we further confirm the association of TREM2 mutations with FTD-like phenotypes by reporting the first compound heterozygous mutation in a Turkish family. |
| format | Online Article Text |
| id | pubmed-3898264 |
| institution | National Center for Biotechnology Information |
| language | English |
| publishDate | 2013 |
| publisher | Elsevier |
| record_format | MEDLINE/PubMed |
| spelling | pubmed-38982642014-01-24 A novel compound heterozygous mutation in TREM2 found in a Turkish frontotemporal dementia-like family() Guerreiro, Rita Bilgic, Basar Guven, Gamze Brás, José Rohrer, Jonathan Lohmann, Ebba Hanagasi, Hasmet Gurvit, Hakan Emre, Murat Neurobiol Aging Genetic Reports Abstract Triggering receptor expressed on myeloid cells 2 (TREM2) homozygous mutations cause Nasu-Hakola disease, an early-onset recessive form of dementia preceded by bone cysts and fractures. The same type of mutations has recently been shown to cause frontotemporal dementia (FTD) without the presence of any bone phenotype. Here, we further confirm the association of TREM2 mutations with FTD-like phenotypes by reporting the first compound heterozygous mutation in a Turkish family. Elsevier 2013-12 /pmc/articles/PMC3898264/ /pubmed/23870839 http://dx.doi.org/10.1016/j.neurobiolaging.2013.06.005 Text en © 2013 The Authors https://creativecommons.org/licenses/by/3.0/ Open Access under CC BY 3.0 (https://creativecommons.org/licenses/by/3.0/) license |
| spellingShingle | Genetic Reports Abstract Guerreiro, Rita Bilgic, Basar Guven, Gamze Brás, José Rohrer, Jonathan Lohmann, Ebba Hanagasi, Hasmet Gurvit, Hakan Emre, Murat A novel compound heterozygous mutation in TREM2 found in a Turkish frontotemporal dementia-like family() |
| title | A novel compound heterozygous mutation in TREM2 found in a Turkish frontotemporal dementia-like family() |
| title_full | A novel compound heterozygous mutation in TREM2 found in a Turkish frontotemporal dementia-like family() |
| title_fullStr | A novel compound heterozygous mutation in TREM2 found in a Turkish frontotemporal dementia-like family() |
| title_full_unstemmed | A novel compound heterozygous mutation in TREM2 found in a Turkish frontotemporal dementia-like family() |
| title_short | A novel compound heterozygous mutation in TREM2 found in a Turkish frontotemporal dementia-like family() |
| title_sort | novel compound heterozygous mutation in trem2 found in a turkish frontotemporal dementia-like family() |
| topic | Genetic Reports Abstract |
| url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3898264/ https://www.ncbi.nlm.nih.gov/pubmed/23870839 http://dx.doi.org/10.1016/j.neurobiolaging.2013.06.005 |
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