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Early-Onset L-dopa-Responsive Parkinsonism with Pyramidal Signs Due to ATP13A2, PLA2G6, FBXO7 and Spatacsin Mutations

Seven autosomal recessive genes associated with juvenile and young-onset Levodopa-responsive parkinsonism have been identified. Mutations in PRKN, DJ-1, and PINK1 are associated with a rather pure parkinsonian phenotype, and have a more benign course with sustained treatment response and absence of...

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Dades bibliogràfiques
Publicat a:Mov Disord
Autors principals: Paisán-Ruiz, Coro, Guevara, Rocio, Federoff, Monica, Hanagasi, Hasmet, Sina, Fardaz, Elahi, Elahe, Schneider, Susanne A., Schwingenschuh, Petra, Bajaj, Nin, Emre, Murat, Singleton, Andrew B., Hardy, John, Bhatia, Kailash P., Brandner, Sebastian, Lees, Andrew J., Houlden, Henry
Format: Artigo
Idioma:Inglês
Publicat: 2010
Matèries:
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC6005705/
https://ncbi.nlm.nih.gov/pubmed/20669327
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/mds.23221
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