Concepedia

Mutations in NMNAT1 cause Leber congenital amaurosis and identify a new disease pathway for retinal degeneration

Robert K. Koenekoop, Hui Wang, Jacek Majewski, Xia Wang, Irma López, Huanan Ren, Yiyun Chen, Yumei Li, Gerald A. Fishman, Mohammed Genead,

Nature Genetics · 2012 · 205 citations · 24 references

DOI

Concepts

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24

Fast and accurate short read alignment with Burrows–Wheeler transform

Heng Li, Richard Durbin · Bioinformatics · 2009 · 62.8K citations · Full text

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The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data

Aaron McKenna, Matthew G. Hanna, Eric Banks et al. · Genome Research · 2010 · 30K citations · Full text

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Increased Nuclear NAD Biosynthesis and SIRT1 Activation Prevent Axonal Degeneration

Toshiyuki Araki, Yo Sasaki, Jeffrey Milbrandt · Science · 2004 · 1.1K citations

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Absence of Wallerian Degeneration does not Hinder Regeneration in Peripheral Nerve

E. R. Lunn, V. Hugh Perry, M. Christian Brown et al. · European Journal of Neuroscience · 1989 · 655 citations

, , +14

Wallerian degeneration of injured axons and synapses is delayed by a Ube4b/Nmnat chimeric gene

Till G.A. Mack, Michael Reiner, Bogdan Beirowski et al. · Nature Neuroscience · 2001 · 614 citations

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