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Novel Mutations in TARDBP (TDP-43) in Patients with Familial Amyotrophic Lateral Sclerosis
The TAR DNA-binding protein 43 (TDP-43) has been identified as the major disease protein in amyotrophic lateral sclerosis (ALS) and frontotemporal lobar degeneration with ubiquitin inclusions (FTLD-U), defining a novel class of neurodegenerative conditions: the TDP-43 proteinopathies. The first path...
Autores principales: | Rutherford, Nicola J., Zhang, Yong-Jie, Baker, Matt, Gass, Jennifer M., Finch, NiCole A., Xu, Ya-Fei, Stewart, Heather, Kelley, Brendan J., Kuntz, Karen, Crook, Richard J. P., Sreedharan, Jemeen, Vance, Caroline, Sorenson, Eric, Lippa, Carol, Bigio, Eileen H., Geschwind, Daniel H., Knopman, David S., Mitsumoto, Hiroshi, Petersen, Ronald C., Cashman, Neil R., Hutton, Mike, Shaw, Christopher E., Boylan, Kevin B., Boeve, Bradley, Graff-Radford, Neill R., Wszolek, Zbigniew K., Caselli, Richard J., Dickson, Dennis W., Mackenzie, Ian R., Petrucelli, Leonard, Rademakers, Rosa |
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Formato: | Texto |
Lenguaje: | English |
Publicado: |
Public Library of Science
2008
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2527686/ https://www.ncbi.nlm.nih.gov/pubmed/18802454 http://dx.doi.org/10.1371/journal.pgen.1000193 |
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