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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Hauptverfasser: 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
Sprache:Inglês
Veröffentlicht: 2009
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Article
Online Zugang: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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