Novel ATP13A2 (PARK9) homozygous mutation in a family with marked phenotype variability

Mutations in the ATP13A2 (PARK9) and FBXO7 (PARK15) genes are linked to different forms of autosomal recessive juvenile-onset neurodegenerative diseases with overlapping phenotypes, including levodopa-responsive parkinsonism, pyramidal disturbances, cognitive decline, and supranuclear gaze disturban...

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Detalles Bibliográficos
Autores principales: Santoro, Lucio, Breedveld, Guido J., Manganelli, Fiore, Iodice, Rosa, Pisciotta, Chiara, Nolano, Maria, Punzo, Francesca, Quarantelli, Mario, Pappatà, Sabina, Di Fonzo, Alessio, Oostra, Ben A., Bonifati, Vincenzo
Formato: Texto
Lenguaje:English
Publicado: Springer-Verlag 2010
Materias:
Original Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3029807/
https://www.ncbi.nlm.nih.gov/pubmed/20853184
http://dx.doi.org/10.1007/s10048-010-0259-0

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3029807/
https://www.ncbi.nlm.nih.gov/pubmed/20853184
http://dx.doi.org/10.1007/s10048-010-0259-0

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