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...

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Detalles Bibliográficos
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
Formato: Texto
Lenguaje:English
Publicado: Public Library of Science 2008
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