Concepedia

Mutations in QARS, Encoding Glutaminyl-tRNA Synthetase, Cause Progressive Microcephaly, Cerebral-Cerebellar Atrophy, and Intractable Seizures

Xiaochang Zhang, Jiqiang Ling, Giulia Barcia, Lili Jing, Jiang Wu, Brenda J. Barry, Ganeshwaran H. Mochida, R. Sean Hill, Jill M. Weimer, Quinn Stein,

The American Journal of Human Genetics · 2014 · 136 citations · 31 references

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31

Structure of <i>E. coli</i> Glutaminyl-tRNA Synthetase Complexed with tRNA <sup>Gln</sup> and ATP at 2.8 Å Resolution

Mark A. Rould, John J. Perona, Dieter Söll et al. · Science · 1989 · 886 citations

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Identification of 315 genes essential for early zebrafish development

Adam Amsterdam, Robert M. Nissen, Zhaoxia Sun et al. · Proceedings of the National Academy of Sciences · 2004 · 795 citations · Full text

, , +14

ASPM is a major determinant of cerebral cortical size

Jacquelyn Bond, Emma Roberts, Ganeshwaran H. Mochida et al. · Nature Genetics · 2002 · 569 citations

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Glycyl tRNA Synthetase Mutations in Charcot-Marie-Tooth Disease Type 2D and Distal Spinal Muscular Atrophy Type V

Anthony Antonellis, Rachel E. Ellsworth, Nyamkhishig Sambuughin et al. · The American Journal of Human Genetics · 2003 · 566 citations · Full text

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De novo gain-of-function KCNT1 channel mutations cause malignant migrating partial seizures of infancy

Giulia Barcia, Matthew R. Fleming, Aline Deligniere et al. · Nature Genetics · 2012 · 528 citations · Full text

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