Literature DB >> 24652610

The many faces of TUBB4A mutations.

Katja Lohmann1, Christine Klein.   

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Year:  2014        PMID： 24652610     DOI： 10.1007/s10048-014-0399-8

Source DB:  PubMed          Journal:  Neurogenetics        ISSN： 1364-6745            Impact factor:   2.660


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  8 in total

1.  Whispering dysphonia in an Australian family (DYT4): a clinical and genetic reappraisal.

Authors:  Robert A Wilcox; Susen Winkler; Katja Lohmann; Christine Klein
Journal:  Mov Disord       Date:  2011-09-28       Impact factor: 10.338

2.  New syndrome characterized by hypomyelination with atrophy of the basal ganglia and cerebellum.

Authors:  Marjo S van der Knaap; SakkuBai Naidu; Petra J W Pouwels; Simona Bonavita; Rudy van Coster; Lieven Lagae; Jürgen Sperner; Robert Surtees; Raphael Schiffmann; Jakob Valk
Journal:  AJNR Am J Neuroradiol       Date:  2002-10       Impact factor: 3.825

3.  Expansion of the spectrum of TUBB4A-related disorders: a new phenotype associated with a novel mutation in the TUBB4A gene.

Authors:  Lubov Blumkin; Ayelet Halevy; Dominique Ben-Ami-Raichman; Dvir Dahari; Ami Haviv; Cohen Sarit; Dorit Lev; Marjo S van der Knaap; Tally Lerman-Sagie; Esther Leshinsky-Silver
Journal:  Neurogenetics       Date:  2014-02-14       Impact factor: 2.660

4.  A de novo mutation in the β-tubulin gene TUBB4A results in the leukoencephalopathy hypomyelination with atrophy of the basal ganglia and cerebellum.

Authors:  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
Journal:  Am J Hum Genet       Date:  2013-04-11       Impact factor: 11.025

5.  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

6.  Hereditary whispering dysphonia.

Authors:  N Parker
Journal:  J Neurol Neurosurg Psychiatry       Date:  1985-03       Impact factor: 10.154

7.  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

8.  Mutations in the β-tubulin gene TUBB5 cause microcephaly with structural brain abnormalities.

Authors:  Martin Breuss; Julian Ik-Tsen Heng; Karine Poirier; Guoling Tian; Xavier Hubert Jaglin; Zhengdong Qu; Andreas Braun; Thomas Gstrein; Linh Ngo; Matilda Haas; Nadia Bahi-Buisson; Marie-Laure Moutard; Sandrine Passemard; Alain Verloes; Pierre Gressens; Yunli Xie; Kathryn J H Robson; Deepa Selvi Rani; Kumarasamy Thangaraj; Tim Clausen; Jamel Chelly; Nicholas Justin Cowan; David Anthony Keays
Journal:  Cell Rep       Date:  2012-12-13       Impact factor: 9.423
  8 in total
  1 in total

1.  Recessive mutations in the α3 (VI) collagen gene COL6A3 cause early-onset isolated dystonia.

Authors:  Michael Zech; Daniel D Lam; Ludmila Francescatto; Barbara Schormair; Aaro V Salminen; Angela Jochim; Thomas Wieland; Peter Lichtner; Annette Peters; Christian Gieger; Hanns Lochmüller; Tim M Strom; Bernhard Haslinger; Nicholas Katsanis; Juliane Winkelmann
Journal:  Am J Hum Genet       Date:  2015-05-21       Impact factor: 11.025
  1 in total

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