Characterization of DCTN1 genetic variability in neurodegeneration

OBJECTIVE: Recently, mutations in DCTN1 were found to cause Perry syndrome, a parkinsonian disorder with TDP-43-positive pathology. Previously, mutations in DCTN1 were identified in a family with lower motor neuron disease, in amyotrophic lateral sclerosis (ALS), and in a family with ALS/frontotempo...

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Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Prif Awduron: Vilariño-Güell, C, Wider, C, Soto-Ortolaza, A I., Cobb, S A., Kachergus, J M., Keeling, B H., Dachsel, J C., Hulihan, M M., Dickson, D W., Wszolek, Z K., Uitti, R J., Graff-Radford, N R., Boeve, B F., Josephs, K A., Miller, B, Boylan, K B., Gwinn, K, Adler, C H., Aasly, J O., Hentati, F, Destée, A, Krygowska-Wajs, A, Chartier-Harlin, M -C., Ross, O A., Rademakers, R, Farrer, M J.
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: American Academy of Neurology 2009
Pynciau:
Articles
Mynediad Ar-lein:https://ncbi.nlm.nih.gov/pmc/articles/PMC2692178/
https://ncbi.nlm.nih.gov/pubmed/19506225
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1212/WNL.0b013e3181a92c4c
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