Journal article

Mutations in DARS Cause Hypomyelination with Brain Stem and Spinal Cord Involvement and Leg Spasticity

Ryan J Taft, Adeline Vanderver, Richard J Leventer, Stephen A Damiani, Cas Simons, Sean M Grimmond, David Miller, Johanna Schmidt, Paul J Lockhart, Kate Pope, Kelin Ru, Joanna Crawford, Tena Rosser, Irenaeus FM de Coo, Monica Juneja, Ishwar C Verma, Prab Prabhakar, Susan Blaser, Julian Raiman, Petra JW Pouwels Show all

American Journal of Human Genetics | CELL PRESS | Published : 2013


Awarded by National Institute of Neurologic Disorders and Stroke, National Institutes of Health

Awarded by ZonMw TOP

Funding Acknowledgements

We are grateful for the support and cooperation of the subjects with hypomyelination with brain stem and spinal cord involvement and leg spasticity, as well as their families. We wish to thank Illumina for their reagent contributions and continuous support of this project. We also thank Dennis Gascoigne and Michael Pheasant for their early support of this work and data-analysis advice, as well as David Amor of the Victorian Clinical Genetics Services. We are indebted to Emiel Polder and Nienke Postma for their help with DARS sequencing and to Marianna Bugiani for discussions on DABS expression. R.J.T. is supported by an Australian Research Council Discovery Early Career Research Award and is a consultant to Isis Pharmaceuticals. A.V. is supported by a grant from the National Institute of Neurologic Disorders and Stroke, National Institutes of Health (1K08NS060695) and by the Myelin Disorders Bioregistry Project. This work was supported by the Mission Massimo Foundation, the Victorian State Government Operational Infrastructure Support Program, the Institute for Molecular Bioscience funds, the NeCTAR Genomics Virtual Lab, a University of Queensland Foundation Research Excellence Award, and ZonMw TOP grant 91211005.