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...

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Autors principals: 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.
Format: Artigo
Idioma:Inglês
Publicat: 2009
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Article
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC2813485/
https://ncbi.nlm.nih.gov/pubmed/19136952
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ng.293
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