Literature DB >> 23884808

One complex world of mitochondrial parkinsonism.

Patrick F Chinnery1.   

Abstract

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Year:  2013        PMID： 23884808      PMCID： PMC3722358          DOI： 10.1093/brain/awt199

Source DB:  PubMed          Journal:  Brain        ISSN： 0006-8950            Impact factor:   13.501


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  22 in total

1.  Relaxed replication of mtDNA: A model with implications for the expression of disease.

Authors:  P F Chinnery; D C Samuels
Journal:  Am J Hum Genet       Date:  1999-04       Impact factor: 11.025

2.  POLG mutations associated with Alpers' syndrome and mitochondrial DNA depletion.

Authors:  Robert K Naviaux; Khue V Nguyen
Journal:  Ann Neurol       Date:  2004-05       Impact factor: 10.422

3.  Mitochondrial DNA deletions are abundant and cause functional impairment in aged human substantia nigra neurons.

Authors:  Yevgenya Kraytsberg; Elena Kudryavtseva; Ann C McKee; Changiz Geula; Neil W Kowall; Konstantin Khrapko
Journal:  Nat Genet       Date:  2006-04-09       Impact factor: 38.330

4.  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

5.  Severe nigrostriatal degeneration without clinical parkinsonism in patients with polymerase gamma mutations.

Authors:  Charalampos Tzoulis; Gia Tuong Tran; Thomas Schwarzlmüller; Karsten Specht; Kristoffer Haugarvoll; Novin Balafkan; Peer K Lilleng; Hrvoje Miletic; Martin Biermann; Laurence A Bindoff
Journal:  Brain       Date:  2013-04-26       Impact factor: 13.501

6.  Mitochondrial DNA polymerase W748S mutation: a common cause of autosomal recessive ataxia with ancient European origin.

Authors:  Anna H Hakonen; Silja Heiskanen; Vesa Juvonen; Ilse Lappalainen; Petri T Luoma; Maria Rantamaki; Gert Van Goethem; Ann Lofgren; Peter Hackman; Anders Paetau; Seppo Kaakkola; Kari Majamaa; Teppo Varilo; Bjarne Udd; Helena Kaariainen; Laurence A Bindoff; Anu Suomalainen
Journal:  Am J Hum Genet       Date:  2005-07-27       Impact factor: 11.025

Review 7.  The mitochondrial DNA polymerase in health and disease.

Authors:  William C Copeland
Journal:  Subcell Biochem       Date:  2010

8.  Mesencephalic complex I deficiency does not correlate with parkinsonism in mitochondrial DNA maintenance disorders.

Authors:  Eino J H Palin; Anders Paetau; Anu Suomalainen
Journal:  Brain       Date:  2013-06-27       Impact factor: 13.501

9.  High levels of mitochondrial DNA deletions in substantia nigra neurons in aging and Parkinson disease.

Authors:  Andreas Bender; Kim J Krishnan; Christopher M Morris; Geoffrey A Taylor; Amy K Reeve; Robert H Perry; Evelyn Jaros; Joshua S Hersheson; Joanne Betts; Thomas Klopstock; Robert W Taylor; Douglass M Turnbull
Journal:  Nat Genet       Date:  2006-04-09       Impact factor: 38.330

10.  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
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  1 in total

Review 1.  Neuropathology of genetic synucleinopathies with parkinsonism: Review of the literature.

Authors:  Susanne A Schneider; Roy N Alcalay
Journal:  Mov Disord       Date:  2017-11       Impact factor: 10.338
  1 in total

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