Concepedia

Dominant-Negative Mutations in α-II Spectrin Cause West Syndrome with Severe Cerebral Hypomyelination, Spastic Quadriplegia, and Developmental Delay

Hirotomo Saitsu, Jun Tohyama, Tatsuro Kumada, Kiyoshi Egawa, Keisuke Hamada, Ippei Okada, Takeshi Mizuguchi, Hitoshi Osaka, Rie Miyata, T Furukawa,

The American Journal of Human Genetics · 2010 · 151 citations · 22 references

Open access

Concepts

Mendelian DisorderSevere Cerebral HypomyelinationNeurological DisorderGenetic DisorderGeneticsNeuroscienceNeurologyCentral Nervous SystemNeuropathologyMedicineDominant-negative MutationsNeurogeneticsDevelopmental Delay

References

22

Efficient selection for high-expression transfectants with a novel eukaryotic vector

Hitoshi Niwa, Ken‐ichi Yamamura, Jun‐ichi Miyazaki · Gene · 1991 · 5.2K citations

Systems Biology, Engineering, Efficient Selection +11

Protein structure prediction on the Web: a case study using the Phyre server

Lawrence A. Kelley, Michael J.E. Sternberg · Nature Protocols · 2009 · 4.2K citations

Structural Bioinformatics, Biomolecular Structure Prediction, Protein Folding +13

A mitogen gradient of dorsal midline Wnts organizes growth in the CNS

Sean G. Megason, Andrew P. McMahon · Development · 2002 · 681 citations

Recessive Symptomatic Focal Epilepsy and Mutant Contactin-Associated Protein-like 2

Kevin A. Strauss, Erik G. Puffenberger, Matthew J. Huentelman et al. · New England Journal of Medicine · 2006 · 624 citations

Genetics, Neurotransmission, Social Sciences +17

Hereditary spherocytosis

Silverio Perrotta, Patrick G. Gallagher, Narla Mohandas · The Lancet · 2008 · 579 citations