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Alessandra Chesi

Researcher at Children's Hospital of Philadelphia

Publications -  93
Citations -  6503

Alessandra Chesi is an academic researcher from Children's Hospital of Philadelphia. The author has contributed to research in topics: Genome-wide association study & Gene. The author has an hindex of 28, co-authored 81 publications receiving 5193 citations. Previous affiliations of Alessandra Chesi include Istituto Italiano di Tecnologia & International School for Advanced Studies.

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Genome-wide analysis of mammalian promoter architecture and evolution

TL;DR: These tagging methods allow quantitative analysis of promoter usage in different tissues and show that differentially regulated alternative TSSs are a common feature in protein-coding genes and commonly generate alternative N termini.
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Exome sequencing in amyotrophic lateral sclerosis identifies risk genes and pathways

Elizabeth T. Cirulli, +70 more
- 27 Mar 2015 - 
TL;DR: A moderate-scale sequencing study aimed at increasing the number of genes known to contribute to predisposition for ALS found several known ALS genes were found to be associated, and TBK1 (the gene encoding TANK-binding kinase 1) was identified as an ALS gene.
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Alpha-synuclein is part of a diverse and highly conserved interaction network that includes PARK9 and manganese toxicity.

TL;DR: Dopaminergic neuron loss caused by α-syn overexpression in animal and neuronal PD models is rescued by coexpression of PARK9, and yeast PARK9 helps to protect cells from manganese toxicity, revealing a connection between PD genetics and an environmental risk factor.
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Genome-wide Analyses Identify KIF5A as a Novel ALS Gene.

Aude Nicolas, +435 more
- 21 Mar 2018 - 
TL;DR: Interestingly, mutations predominantly in the N-terminal motor domain of KIF5A are causative for two neurodegenerative diseases: hereditary spastic paraplegia and Charcot-Marie-Tooth type 2.
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Molecular Determinants and Genetic Modifiers of Aggregation and Toxicity for the ALS Disease Protein FUS/TLS

TL;DR: A combination of yeast genetics and protein biochemistry define how the fused in sarcoma (FUS) protein might contribute to Lou Gehrig's disease.