Literature DB >> 23719791

Autosomal dominant mutations in POLG and C10orf2: association with late onset chronic progressive external ophthalmoplegia and Parkinsonism in two patients.

Barton R Brandon, Nico J Diederich, Madhu Soni, Katrin Witte, Manja Weinhold, Micaela Krause, Sandra Jackson.   

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Year:  2013        PMID： 23719791     DOI： 10.1007/s00415-013-6975-2

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


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  15 in total

Review 1.  Mitochondrial syndromes with leukoencephalopathies.

Authors:  Lee-Jun C Wong
Journal:  Semin Neurol       Date:  2012-03-15       Impact factor: 3.420

Review 2.  TWINKLE gene mutation: report of a French family with an autosomal dominant progressive external ophthalmoplegia and literature review.

Authors:  M-L Martin-Negrier; G Sole; C Jardel; C Vital; X Ferrer; A Vital
Journal:  Eur J Neurol       Date:  2010-09-29       Impact factor: 6.089

3.  POLG1 Arg953Cys mutation: expanded phenotype and recessive inheritance in a Brazilian family.

Authors:  Juliana Gurgel-Giannetti; Sarah Teixeira Camargos; Francisco Cardoso; Michio Hirano; Salvatore DiMauro
Journal:  Muscle Nerve       Date:  2012-03       Impact factor: 3.217

4.  Genetic analysis of two Japanese families with progressive external ophthalmoplegia and parkinsonism.

Authors:  Kazunori Sato; Ichiro Yabe; Hiroaki Yaguchi; Fumihito Nakano; Yasuyuki Kunieda; Shinji Saitoh; Hidenao Sasaki
Journal:  J Neurol       Date:  2011-02-08       Impact factor: 4.849

Review 5.  Finding twinkle in the eyes of a 71-year-old lady: a case report and review of the genotypic and phenotypic spectrum of TWINKLE-related dominant disease.

Authors:  Johan L K Van Hove; Vicki Cunningham; Cathlin Rice; Steven P Ringel; Qing Zhang; Ping-Chieh Chou; Cavatina K Truong; Lee-Jun C Wong
Journal:  Am J Med Genet A       Date:  2009-05       Impact factor: 2.802

6.  POLG mutations in neurodegenerative disorders with ataxia but no muscle involvement.

Authors:  G Van Goethem; P Luoma; M Rantamäki; A Al Memar; S Kaakkola; P Hackman; R Krahe; A Löfgren; J J Martin; P De Jonghe; A Suomalainen; B Udd; C Van Broeckhoven
Journal:  Neurology       Date:  2004-10-12       Impact factor: 9.910

7.  The unfolding clinical spectrum of POLG mutations.

Authors:  M J Blok; B J van den Bosch; E Jongen; A Hendrickx; C E de Die-Smulders; J E Hoogendijk; E Brusse; M de Visser; B T Poll-The; J Bierau; I F de Coo; H J Smeets
Journal:  J Med Genet       Date:  2009-07-02       Impact factor: 6.318

8.  Familial parkinsonism and ophthalmoplegia from a mutation in the mitochondrial DNA helicase twinkle.

Authors:  Robert H Baloh; Ezequiel Salavaggione; Jeffrey Milbrandt; Alan Pestronk
Journal:  Arch Neurol       Date:  2007-07

9.  The clinical, histochemical, and molecular spectrum of PEO1 (Twinkle)-linked adPEO.

Authors:  C Fratter; G S Gorman; J D Stewart; M Buddles; C Smith; J Evans; A Seller; J Poulton; M Roberts; M G Hanna; S Rahman; S E Omer; T Klopstock; B Schoser; C Kornblum; B Czermin; B Lecky; E L Blakely; K Craig; P F Chinnery; D M Turnbull; R Horvath; R W Taylor
Journal:  Neurology       Date:  2010-05-18       Impact factor: 9.910

Review 10.  POLG1-related and other "mitochondrial Parkinsonisms": an overview.

Authors:  Daniele Orsucci; Elena Caldarazzo Ienco; Michelangelo Mancuso; Gabriele Siciliano
Journal:  J Mol Neurosci       Date:  2011-01-08       Impact factor: 3.444
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  6 in total

Review 1.  Mitochondrial genome changes and neurodegenerative diseases.

Authors:  Milena Pinto; Carlos T Moraes
Journal:  Biochim Biophys Acta       Date:  2013-11-16

2.  Chronic progressive external ophthalmoplegia with inflammatory myopathy.

Authors:  Ting Chen; Chuanqiang Pu; Qiang Shi; Qian Wang; Lu Cong; Jiexiao Liu; Hongyu Luo; Lingna Fei; Wei Tang; Shanshan Yu
Journal:  Int J Clin Exp Pathol       Date:  2014-12-01

3.  Juvenile onset Parkinsonism with "pure nigral" degeneration and POLG1 mutation.

Authors:  Shyamal H Mehta; Dennis W Dickson; John C Morgan; Andrew B Singleton; Elisa Majounie; Kapil D Sethi
Journal:  Parkinsonism Relat Disord       Date:  2016-06-21       Impact factor: 4.891

Review 4.  Role of the mitochondrial DNA replication machinery in mitochondrial DNA mutagenesis, aging and age-related diseases.

Authors:  Karen L DeBalsi; Kirsten E Hoff; William C Copeland
Journal:  Ageing Res Rev       Date:  2016-04-30       Impact factor: 10.895

5.  TWNK in Parkinson's Disease: A Movement Disorder and Mitochondrial Disease Center Perspective Study.

Authors:  Marco Percetti; Giulia Franco; Edoardo Monfrini; Leonardo Caporali; Raffaella Minardi; Chiara La Morgia; Maria Lucia Valentino; Rocco Liguori; Ilaria Palmieri; Donatella Ottaviani; Maria Vizziello; Dario Ronchi; Federica Di Berardino; Antoniangela Cocco; Bertil Macao; Maria Falkenberg; Giacomo Pietro Comi; Alberto Albanese; Bruno Giometto; Enza Maria Valente; Valerio Carelli; Alessio Di Fonzo
Journal:  Mov Disord       Date:  2022-07-06       Impact factor: 9.698

6.  Twinkle-associated familial parkinsonism with Lewy pathology: Cause or predisposition?

Authors:  David P Breen; David G Munoz; Anthony E Lang
Journal:  Neurology       Date:  2020-08-26       Impact factor: 9.910
  6 in total

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