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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Foilsithe in:Hum Genomics
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
Formáid: Artigo
Teanga:Inglês
Foilsithe: BioMed Central 2019
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Primary Research
Rochtain Ar Líne:https://ncbi.nlm.nih.gov/pmc/articles/PMC6469102/
https://ncbi.nlm.nih.gov/pubmed/30992063
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s40246-019-0203-9
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