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Eric Powell

Researcher at University of Miami

Publications -  16
Citations -  2004

Eric Powell is an academic researcher from University of Miami. The author has contributed to research in topics: Exome sequencing & Exome. The author has an hindex of 12, co-authored 16 publications receiving 1705 citations. Previous affiliations of Eric Powell include John P. Hussman Institute for Human Genomics.

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dSarm/Sarm1 Is Required for Activation of an Injury-Induced Axon Death Pathway

TL;DR: It is shown that loss of the Drosophila Toll receptor adaptor dSarm cell-autonomously suppresses Wallerian degeneration for weeks after axotomy, providing direct evidence that axons actively promote their own destruction after injury and identify dSARM/Sarm1 as a member of an ancient axon death signaling pathway.
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Dementia revealed: novel chromosome 6 locus for late-onset Alzheimer disease provides genetic evidence for folate-pathway abnormalities.

TL;DR: The present study observed and replicated a novel statistically significant association in MTHFD1L, a gene involved in the tetrahydrofolate synthesis pathway that may play a role in the generation of methionine from homocysteine and influence homocy steine-related pathways and as levels of homocy Steine are a significant risk factor for LOAD development.
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Exome sequencing allows for rapid gene identification in a Charcot‐Marie‐Tooth family

TL;DR: The relative uniform phenotypes in many patients with CMT make it difficult to decide which of the over 35 known CMT genes are affected in a given patient, and genetic testing decision trees are broadly based on a small number of major subtypes and the observed mutation frequency.