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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Auteurs principaux: 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
Langue:Inglês
Publié: 2009
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Article
Accès en ligne: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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