Literature DB >> 23212759

POLG mutation presenting with late-onset jerky torticollis.

Anil M Tuladhar, F J Anton Meijer, Bart P van de Warrenburg.   

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Year:  2012        PMID： 23212759     DOI： 10.1007/s00415-012-6776-z

Source DB:  PubMed          Journal:  J Neurol        ISSN： 0340-5354            Impact factor:   4.849


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  7 in total

1.  The spectrum of clinical disease caused by the A467T and W748S POLG mutations: a study of 26 cases.

Authors:  Charalampos Tzoulis; Bernt A Engelsen; Wenche Telstad; Jan Aasly; Massimo Zeviani; Synnøve Winterthun; Gianfrancesco Ferrari; Jan H Aarseth; Laurence A Bindoff
Journal:  Brain       Date:  2006-04-25       Impact factor: 13.501

2.  Complex hyperkinetic movement disorders associated with POLG mutations.

Authors:  Matthis Synofzik; Rebecca Schüle; Claudia Schulte; Rejko Krüger; Tobias Lindig; Ludger Schöls; Friedrich Asmus
Journal:  Mov Disord       Date:  2010-10-30       Impact factor: 10.338

3.  Mutation of POLG is associated with progressive external ophthalmoplegia characterized by mtDNA deletions.

Authors:  G Van Goethem; B Dermaut; A Löfgren; J J Martin; C Van Broeckhoven
Journal:  Nat Genet       Date:  2001-07       Impact factor: 38.330

4.  Localized cerebral energy failure in DNA polymerase gamma-associated encephalopathy syndromes.

Authors:  Charalampos Tzoulis; Gesche Neckelmann; Sverre J Mørk; Bernt E Engelsen; Carlo Viscomi; Gunnar Moen; Lars Ersland; Massimo Zeviani; Laurence A Bindoff
Journal:  Brain       Date:  2010-04-16       Impact factor: 13.501

5.  Molecular and clinical genetics of mitochondrial diseases due to POLG mutations.

Authors:  Lee-Jun C Wong; Robert K Naviaux; Nicola Brunetti-Pierri; Qing Zhang; Eric S Schmitt; Cavatina Truong; Margherita Milone; Bruce H Cohen; Beverly Wical; Jaya Ganesh; Alice A Basinger; Barbara K Burton; Kathryn Swoboda; Donald L Gilbert; Adeline Vanderver; Russell P Saneto; Bruno Maranda; Georgianne Arnold; Jose E Abdenur; Paula J Waters; William C Copeland
Journal:  Hum Mutat       Date:  2008-09       Impact factor: 4.878

6.  Cerebellar leukoencephalopathy: most likely histiocytosis-related.

Authors:  M S van der Knaap; W F M Arts; J Y Garbern; G Hedlund; F Winkler; C Barbosa; M D King; A Bjørnstad; N Hussain; M K Beyer; C Gomez; M C Patterson; P Grattan-Smith; M Timmons; P van der Valk
Journal:  Neurology       Date:  2008-10-21       Impact factor: 9.910

7.  Autosomal recessive mitochondrial ataxic syndrome due to mitochondrial polymerase gamma mutations.

Authors:  S Winterthun; G Ferrari; L He; R W Taylor; M Zeviani; D M Turnbull; B A Engelsen; G Moen; L A Bindoff
Journal:  Neurology       Date:  2005-04-12       Impact factor: 9.910
  7 in total

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