Literature DB >> 21956653

Dystonia in mitochondrial spinocerebellar ataxia and epilepsy syndrome associated with novel recessive POLG mutations.

Claire Hinnell, Salman Haider, Shane Delamont, Chris Clough, Nedim Hadzic, Michael Samuel.   

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Year:  2011        PMID： 21956653     DOI： 10.1002/mds.23960

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.  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 3.  POLG-related disorders and their neurological manifestations.

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

4.  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.  Spectrum of movement disorders and neurotransmitter abnormalities in paediatric POLG disease.

Authors:  A Papandreou; S Rahman; C Fratter; J Ng; E Meyer; L J Carr; M Champion; A Clarke; P Gissen; C Hemingway; N Hussain; S Jayawant; M D King; B J Lynch; L Mewasingh; J Patel; P Prabhakar; V Neergheen; S Pope; S J R Heales; J Poulton; Manju A Kurian
Journal:  J Inherit Metab Dis       Date:  2018-08-30       Impact factor: 4.982
  5 in total

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