A De Novo Mutation in the beta-Tubulin Gene TUBB4A Results in the Leukoencephalopathy Hypomyelination with Atrophy of the Basal Ganglia and Cerebellum

Cas Simons; Nicole I Wolf; Nathan McNeil; Ljubica Caldovic; Joseph M Devaney; Asako Takanohashi; Joanna Crawford; Kelin Ru; Sean M Grimmond; David Miller; Davide Tonduti; Johanna L Schmidt; Robert S Chudnow; Rudy van Coster; Lieven Lagae; Jill Kisler; Juergen Sperner; Marjo S van der Knaap; Raphael Schiffmann; Ryan J Taft; Adeline Vanderver

Journal article

A De Novo Mutation in the beta-Tubulin Gene TUBB4A Results in the Leukoencephalopathy Hypomyelination with Atrophy of the Basal Ganglia and Cerebellum

Cas Simons, Nicole I Wolf, Nathan McNeil, Ljubica Caldovic, Joseph M Devaney, Asako Takanohashi, Joanna Crawford, Kelin Ru, Sean M Grimmond, David Miller, Davide Tonduti, Johanna L Schmidt, Robert S Chudnow, Rudy van Coster, Lieven Lagae, Jill Kisler, Juergen Sperner, Marjo S van der Knaap, Raphael Schiffmann, Ryan J Taft Show all

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

DOI: 10.1016/j.ajhg.2013.03.018

University of Melbourne Researchers

Sean Grimmond Author

Grants

Awarded by Myelin Disorders Bioregistry Project, ZonMw TOP grant

Funding Acknowledgements

This study was supported by the National Institutes of Health Intramural Program, the Myelin Disorders Bioregistry Project, ZonMw TOP grant 91211005, the Institute for Molecular Bioscience Core Sequencing facility, the NeCTAR Genomics Virtual Lab (G.V.L.), and a University of Queensland Foundation Research Excellence Award. A.V. is supported by K08NS060695. R.J.T. is supported by an Australian Research Council Discovery Early Career Research Award and is a consultant to Isis Pharmaceuticals.