DCTN1 mutations in Perry syndrome

Perry syndrome consists of early-onset parkinsonism, depression, severe weight loss and hypoventilation, in which brain pathology is characterized by TDP-43 immunostaining. Through genome-wide linkage analysis we have identified five disease-segregating dynactin (DCTN1) CAP-Gly domain substitutions...

Descripción completa

Detalles Bibliográficos
Autores principales: Farrer, Matthew J., Hulihan, Mary M., Kachergus, Jennifer M., Dächsel, Justus, Stoessl, A. Jon, Grantier, Linda L., Calne, Susan, Calne, Donald B., Lechevalier, Bernard, Chapon, Francoise, Tsuboi, Yoshio, Yamada, Tatsuo, Gutmann, Ludwig, Elibol, Bülent, Bhatia, Kailash P., Wider, Christian W., Vilariño-Güell, Carles, Ross, Owen A., Brown, Laura A., Castanedes-Casey, Monica, Dickson, Dennis W., Wszolek, Zbigniew K.
Formato: Texto
Lenguaje:English
Publicado: 2009
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2813485/
https://www.ncbi.nlm.nih.gov/pubmed/19136952
http://dx.doi.org/10.1038/ng.293

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2813485/
https://www.ncbi.nlm.nih.gov/pubmed/19136952
http://dx.doi.org/10.1038/ng.293

Ejemplares similares