A de novo mutation in the beta-Tubulin gene TUBB4A results in the leukoencephalopathy hypomyelination with adrophy of the basal ganglia and cerebellum

Authors

Cas Simons, University of QueenslandFollow
Nicole I. Wolf, Vrije Universiteit Amsterdam
Nathan McNeil, Baylor College of Medicine
Ljubica Caldovic, George Washington UniversityFollow
Joseph M. Devaney, George Washington UniversityFollow
Asako Takanohashi, Center for Genetic Medicine Research, Washington, DC
Joanna Crawford, University of Queensland
Kelin Ru, University of Queensland
Sean M. Grimmond, University of QueenslandFollow
David Miller, University of QueenslandFollow
Davide Tonduti, Universityof Pavia, Pavia, ItalyFollow
Johanna L. Schmidt, Children's National Medical Center
Robert S. Chudnow, Texas Child Neurology, Plano, TX
Rudy van Coster, Ghent University Hospital, Ghent, Belgium
Lieven Lagae, University Hospital Leuven, Leuven, Belgium
Jill Kisler, Newcastle Upon Tyne Hospital, UK
Juergen Sperner, Vrije Universiteit Amsterdam
Marjo S. van der Knaap, Vrije Universiteit AmsterdamFollow
Raphael Shiffmann, Baylor College of Medicine
Ryan J. Taft, University of QueenslandFollow
Adeline Vanderver, George Washington UniversityFollow

Document Type

Journal Article

Publication Date

5-2-2013

Journal

American Journal of Human Genetics

Volume

Volume 92, Issue 5

Inclusive Pages

767-773

Keywords

Basal Ganglia--pathology; Cerebellum--pathology; Leukoencephalopathies--genetics; Models; Molecular; Protein Conformation; Tubulin--genetics

Comments

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

APA Citation

Simons C, Wolf NI, McNeil N, Caldovic L, Devaney JM, Takanohashi A, Crawford J, Ru K, Grimmond SM, Miller D, Tonduti D, Schmidt JL, Chudnow RS, van Coster R, Lagae L, Kisler J, Sperner J, van der Knaap MS, Schiffmann R, Taft RJ, Vanderver A. (2013). A de novo mutation in the β-tubulin gene TUBB4A results in the leukoencephalopathy hypomyelination with atrophy of the basal ganglia and cerebellum. American Journal of Human Genetics, 92(5), 767-773.

Peer Reviewed

1

Open Access

1