Concepedia

Yunis-Varón Syndrome Is Caused by Mutations in FIG4, Encoding a Phosphoinositide Phosphatase

Philippe M. Campeau, Guy M. Lenk, James T. Lu, Yangjin Bae, Lindsay C. Burrage, Peter D. Turnpenny, Jorge Román Corona‐Rivera, Lucía Morandi, Marina Mora, Heiko Reutter,

The American Journal of Human Genetics · 2013 · 144 citations · 29 references

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29

Allen Brain Atlas: an integrated spatio-temporal portal for exploring the central nervous system

Susan M. Sunkin, Lydia Ng, Chris Lau et al. · Nucleic Acids Research · 2012 · 860 citations · Full text

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Missense mutations abolishing DNA binding of the osteoblast-specific transcription factor OSF2/CBFA1 in cleidocranial dysplasia

Brendan Lee, Kannan Thirunavukkarasu, Lei Zhou et al. · Nature Genetics · 1997 · 569 citations

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Mutation of FIG4 causes neurodegeneration in the pale tremor mouse and patients with CMT4J

Clement Y. Chow, Yanling Zhang, James J. Dowling et al. · Nature · 2007 · 511 citations · Full text

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VAC14 nucleates a protein complex essential for the acute interconversion of PI3P and PI(3,5)P2 in yeast and mouse

Natsuko Jin, Clement Y. Chow, Li Liu et al. · The EMBO Journal · 2008 · 271 citations · Full text

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Defective autophagy in neurons and astrocytes from mice deficient in PI(3,5)P2

Cole Ferguson, Guy M. Lenk, Miriam H. Meisler · Human Molecular Genetics · 2009 · 203 citations · Full text

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