Mutations in DARS cause hypomyelination with brain stem and spinal cord involvement and leg spasticity

Authors

Ryan J. Taft, University of QueenslandFollow
Adeline Vanderver, George Washington UniversityFollow
Richard J. Leventer, Murdoch Childrens Research Institute, Melbourne, Australia
Stephen Damiani, Murdoch Childrens Research Institute, Melbourne, Australia
Cas Simons, University of QueenslandFollow
Sean M. Grimmond, University of QueenslandFollow
David Miller, University of QueenslandFollow
Johanna L. Schmidt, George Washington University
+16 additional authors

Document Type

Journal Article

Publication Date

5-2-2013

Journal

American Journal of Human Genetics

Volume

Volume 92, Issue 5

Inclusive Pages

774-780

Keywords

Aspartate-tRNA Ligase--genetics; Leukoencephalopathies--genetics; Models; Molecular; Muscle Spasticity--genetics; Protein Conformation

Comments

This is a PubMed Central article. Click on link for full-text access.

APA Citation

Taft RJ, Vanderver A, Leventer RJ, Damiani SA, Simons C, Grimmond SM, Miller D, Schmidt J, Lockhart PJ, Pope K, Ru K, Crawford J, Rosser T, de Coo IF, Juneja M, Verma IC, Prabhakar P, Blaser S, Raiman J, Pouwels PJ, Bevova MR, Abbink TE, van der Knaap MS, Wolf NI. (2013). Mutations in DARS cause hypomyelination with brain stem and spinal cord involvement and leg spasticity. American Journal of Human Genetics, 92(5), 774-780.

Peer Reviewed

1

Open Access

1