PMC Links for Nucleotide (Select 574997036) - PMC

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Items: 2

Select item 36986991.

Mutations in the Autoregulatory Domain of β-Tubulin 4a Cause Hereditary Dystonia

Joshua Hersheson, Niccolo E Mencacci, Mary Davis, Nicola MacDonald, Daniah Trabzuni, Mina Ryten, Alan Pittman, Reema Paudel, Eleanna Kara, Katherine Fawcett, Vincent Plagnol, Kailash P Bhatia, Alan J Medlar, Horia C Stanescu, John Hardy, Robert Kleta, Nicholas W Wood, Henry Houlden

Ann Neurol. 2013 Apr; 73(4): 546–553. Published online 2013 Feb 19. doi: 10.1002/ana.23832

PMCID:: PMC3698699

Abstract Article PDF–561K

Select item 36446252.

A De Novo Mutation in the β-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, Jürgen Sperner, Marjo S. van der Knaap, Raphael Schiffmann, Ryan J. Taft, Adeline Vanderver

Am J Hum Genet. 2013 May 2; 92(5): 767–773. doi: 10.1016/j.ajhg.2013.03.018