A Swedish family with de novo α-synuclein A53T mutation: Evidence for early cortical dysfunction

A de novo α-synuclein A53T (p.Ala53Thr; c.209G>A) mutation has been identified in a Swedish family with autosomal dominant Parkinson's disease (PD). Two affected individuals had early-onset (before 31 and 40 years), severe levodopa-responsive PD with prominent dysphasia, dysarthria, and cogn...

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Αποθηκεύτηκε σε:
Λεπτομέρειες βιβλιογραφικής εγγραφής
Κύριοι συγγραφείς: Puschmann, Andreas, Ross, Owen A., Vilariño-Güell, Carles, Lincoln, Sarah J., Kachergus, Jennifer M., Cobb, Stephanie A., Lindquist, Suzanne G., Nielsen, Jørgen E., Wszolek, Zbigniew K., Farrer, Matthew, Widner, Håkan, van Westen, Danielle, Hägerström, Douglas, Markopoulou, Katerina, Chase, Bruce A., Nilsson, Karin, Reimer, Jan, Nilsson, Christer
Μορφή: Artigo
Γλώσσα:Inglês
Έκδοση: 2009
Θέματα:
Article
Διαθέσιμο Online:https://ncbi.nlm.nih.gov/pmc/articles/PMC2783246/
https://ncbi.nlm.nih.gov/pubmed/19632874
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.parkreldis.2009.06.007
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