Literature DB >> 23358481

Movement disorders: Advancing our understanding of dystonias--genetic studies reveal TUBB4 mutation in patients with dystonia type 4.

Katy Malpass.   

Abstract

Entities:  

Year:  2013        PMID： 23358481     DOI： 10.1038/nrneurol.2013.3

Source DB:  PubMed          Journal:  Nat Rev Neurol        ISSN： 1759-4758            Impact factor:   42.937


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  2 in total

1.  Whispering dysphonia (DYT4 dystonia) is caused by a mutation in the TUBB4 gene.

Authors:  Katja Lohmann; Robert A Wilcox; Susen Winkler; Alfredo Ramirez; Aleksandar Rakovic; Jin-Sung Park; Björn Arns; Thora Lohnau; Justus Groen; Meike Kasten; Norbert Brüggemann; Johann Hagenah; Alexander Schmidt; Frank J Kaiser; Kishore R Kumar; Katja Zschiedrich; Daniel Alvarez-Fischer; Eckart Altenmüller; Andreas Ferbert; Anthony E Lang; Alexander Münchau; Vladimir Kostic; Kristina Simonyan; Marc Agzarian; Laurie J Ozelius; Antonius P M Langeveld; Carolyn M Sue; Marina A J Tijssen; Christine Klein
Journal:  Ann Neurol       Date:  2013-04-17       Impact factor: 10.422

2.  Mutations in the autoregulatory domain of β-tubulin 4a cause hereditary dystonia.

Authors:  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
Journal:  Ann Neurol       Date:  2013-02-19       Impact factor: 10.422
  2 in total

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