Literature DB >> 20818669

Complex hyperkinetic movement disorders associated with POLG mutations.

Matthis Synofzik, Rebecca Schüle, Claudia Schulte, Rejko Krüger, Tobias Lindig, Ludger Schöls, Friedrich Asmus.   

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Year:  2010        PMID： 20818669     DOI： 10.1002/mds.23307

Source DB:  PubMed          Journal:  Mov Disord        ISSN： 0885-3185            Impact factor:   10.338


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  5 in total

1.  Dystonia in a Patient with Autosomal-Dominant Progressive External Ophthalmoplegia Type 1 Caused by Mutation in the POLG Gene.

Authors:  Malco Rossi; Alex Medina Escobar; Martin Radrizzani; Silvia Tenembaum; Claudia Perandones; Marcelo Merello
Journal:  Mov Disord Clin Pract       Date:  2016-07-08

2.  POLG mutation presenting with late-onset jerky torticollis.

Authors:  Anil M Tuladhar; F J Anton Meijer; Bart P van de Warrenburg
Journal:  J Neurol       Date:  2012-12-05       Impact factor: 4.849

3.  Characterizing POLG ataxia: clinics, electrophysiology and imaging.

Authors:  Matthis Synofzik; Karin Srulijes; Jana Godau; Daniela Berg; Ludger Schöls
Journal:  Cerebellum       Date:  2012-12       Impact factor: 3.847

Review 4.  POLG-related disorders and their neurological manifestations.

Authors:  Shamima Rahman; William C Copeland
Journal:  Nat Rev Neurol       Date:  2019-01       Impact factor: 42.937

5.  What is influencing the phenotype of the common homozygous polymerase-γ mutation p.Ala467Thr?

Authors:  Vivienne C M Neeve; David C Samuels; Laurence A Bindoff; Bianca van den Bosch; Gert Van Goethem; Hubert Smeets; Anne Lombès; Claude Jardel; Michio Hirano; Salvatore Dimauro; Maaike De Vries; Jan Smeitink; Bart W Smits; Ireneus F M de Coo; Carsten Saft; Thomas Klopstock; Bianca-Cortina Keiling; Birgit Czermin; Angela Abicht; Hanns Lochmüller; Gavin Hudson; Grainne G Gorman; Doug M Turnbull; Robert W Taylor; Elke Holinski-Feder; Patrick F Chinnery; Rita Horvath
Journal:  Brain       Date:  2012-12       Impact factor: 13.501
  5 in total

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