The DOI matches its Crossref record; 4 of the 4 references it cites were found in a registry or an index.
TARDBP mutations in motoneuron disease with frontotemporal lobar degeneration
Abstract
TDP‐43 (TAR‐DNA binding protein) aggregates in neuronal inclusions in motoneuron disease (MND), as well as in frontotemporal lobar degeneration (FTLD) and FTLD associated with MND (FTLD‐MND). Mutations in TARDBP gene, coding for TDP‐43, were found in patients with pure MND. We now describe TARDBP mutations in two patients with FTLD‐MND, presenting with a behavioral variant of FTLD and semantic dementia, suggesting that TDP‐43 may also have a direct pathogenic role in FTLD disorders. Ann Neurol 2009;65:470–474
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Cites
Ubiquitinated TDP-43 in Frontotemporal Lobar Degeneration and Amyotrophic Lateral Sclerosis
Neumann, M., Sampathu, D. M., Kwong, L. K., Truax, A. C., Micsenyi, M. C., Chou, T. T., Bruce, J., Schuck, T., Grossman, M., Clark, C. M., et al. (2006) · Science · doi:10.1126/science.1134108 · Cited by 6,576
TDP-43 Mutations in Familial and Sporadic Amyotrophic Lateral Sclerosis
Sreedharan, J., Blair, I. P., Tripathi, V. B., Hu, X., Vance, C., Rogelj, B., Ackerley, S., Durnall, J. C., Williams, K. L., Buratti, E., et al. (2008) · Science · doi:10.1126/science.1154584 · Cited by 2,630
TARDBP mutations in individuals with sporadic and familial amyotrophic lateral sclerosis
Kabashi, E., Valdmanis, P. N., Dion, P., Spiegelman, D., McConkey, B. J., Velde, C. V., Bouchard, J.-P., Lacomblez, L., Pochigaeva, K., Salachas, F., et al. (2008) · Nature Genetics · doi:10.1038/ng.132 · Cited by 1,544
Self-citationTDP ‐ 43 mutation in familial amyotrophic lateral sclerosis
Yokoseki, A., Shiga, A., Tan, C., Tagawa, A., Kaneko, H., Koyama, A., Eguchi, H., Tsujino, A., Ikeuchi, T., Kakita, A., et al. (2008) · Annals of Neurology · doi:10.1002/ana.21392 · Cited by 373
Cited by
Microglia in neurodegenerative diseases: mechanism and potential therapeutic targets
Gao, C., Jiang, J., Tan, Y., & Chen, S. (2023) · Signal Transduction and Targeted Therapy · doi:10.1038/s41392-023-01588-0 · Cited by 1,616
TDP-43 and FUS/TLS: emerging roles in RNA processing and neurodegeneration
Lagier-Tourenne, C., Polymenidou, M., & Cleveland, D. W. (2010) · Human Molecular Genetics · doi:10.1093/hmg/ddq137 · Cited by 1,021
A new subtype of frontotemporal lobar degeneration with FUS pathology
Neumann, M., Rademakers, R., Roeber, S., Baker, M., Kretzschmar, H. A., & Mackenzie, I. R. A. (2009) · Brain · doi:10.1093/brain/awp214 · Cited by 722
Clinical genetics of amyotrophic lateral sclerosis: what do we really know?
Andersen, P. M., & Al-Chalabi, A. (2011) · Nature Reviews Neurology · doi:10.1038/nrneurol.2011.150 · Cited by 687
Clinical, genetic and pathological heterogeneity of frontotemporal dementia: A review
Seelaar, H., Rohrer, J. D., Pijnenburg, Y. A. L., Fox, N. C., & van Swieten, J. C. (2011) · Journal of Neurology, Neurosurgery & Psychiatry · doi:10.1136/jnnp.2010.212225 · Cited by 609
Metadata
- Authors
- Benajiba, L., Le Ber, I., Camuzat, A., Lacoste, M., Thomas‐Anterion, C., Couratier, P., Legallic, S., Salachas, F., Hannequin, D., Decousus, M., Lacomblez, L., Guedj, E., Golfier, V., Camu, W., Dubois, B., Campion, D., Meininger, V., Brice, A., & French Clinical and Genetic Research Network on Frontotemporal Lobar Degeneration/Frontotemporal Lobar Degeneration with Motoneuron Disease
- Venue
- Annals of Neurology
- Publisher
- Wiley
- Published
- 2009-04
- Volume
- 65
- Issue
- 4
- Pages
- 470-473
- ISSN
- 0364-5134 (ISSN-L)
- 1531-8249
- OpenAlex
- W2006897215
- Cited by
- 303
- References
- 4
- FWCI
- 26.81
- Type
- journal article
- Language
- en
- Open access
- closed
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- The paper
- Benajiba, L., Le Ber, I., Camuzat, A., Lacoste, M., Thomas‐Anterion, C., Couratier, P., Legallic, S., Salachas, F., Hannequin, D., Decousus, M., Lacomblez, L., Guedj, E., Golfier, V., Camu, W., Dubois, B., Campion, D., Meininger, V., Brice, A., & French Clinical and Genetic Research Network on Frontotemporal Lobar Degeneration/Frontotemporal Lobar Degeneration with Motoneuron Disease. (2009). TARDBP mutations in motoneuron disease with frontotemporal lobar degeneration. Annals of Neurology. https://doi.org/10.1002/ana.21612
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Bibliographic data: Semantic Scholar, OpenAlex, Crossref.
Contains information from the Semantic Scholar Academic Graph Datasets, made available under the ODC Attribution License (ODC-BY 1.0).
Semantic Scholar’s data is described in: Kinney, R., et al. (2023). The Semantic Scholar Open Data Platform. arXiv:2301.10140.