Mutations in ATP13A2 (PARK9) are associated with an amyotrophic lateral sclerosis-like phenotype, implicating this locus in further phenotypic expansion

BACKGROUND: Amyotrophic lateral sclerosis [1] is a genetically heterogeneous neurodegenerative disorder, characterized by late-onset degeneration of motor neurons leading to progressive limb and bulbar weakness, as well as of the respiratory muscles, which is the primary cause of disease fatality. T...

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Bibliographic Details
Main Authors: Spataro, Rossella, Kousi, Maria, Farhan, Sali M K, Willer, Jason R, Ross, Jay P, Dion, Patrick A, Rouleau, Guy A, Daly, Mark J, Neale, Benjamin M, La Bella, Vincenzo, Katsanis, Nicholas
Other Authors: Massachusetts Institute of Technology. Computer Science and Artificial Intelligence Laboratory
Format: Article
Language:English
Published: BioMed Central 2020
Online Access:https://hdl.handle.net/1721.1/126365