Literature DB >> 15800909

Progressive external ophthalmoplegia: a new family with tremor and peripheral neuropathy.

Fuki M Hisama, Michelangelo Mancuso, Massimiliano Filosto, Salvatore DiMauro.   

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Year:  2005        PMID： 15800909     DOI： 10.1002/ajmg.a.30672

Source DB:  PubMed          Journal:  Am J Med Genet A        ISSN： 1552-4825            Impact factor:   2.802


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  4 in total

1.  Modulation of the W748S mutation in DNA polymerase gamma by the E1143G polymorphismin mitochondrial disorders.

Authors:  Sherine S L Chan; Matthew J Longley; William C Copeland
Journal:  Hum Mol Genet       Date:  2006-11-06       Impact factor: 6.150

2.  Nerve and muscle involvement in mitochondrial disorders: an electrophysiological study.

Authors:  Michelangelo Mancuso; Selina Piazza; Leda Volpi; Daniele Orsucci; Valeria Calsolaro; Elena Caldarazzo Ienco; Cecilia Carlesi; Anna Rocchi; Lucia Petrozzi; Rosanna Calabrese; Gabriele Siciliano
Journal:  Neurol Sci       Date:  2011-07-13       Impact factor: 3.307

3.  Overexpression of DNA polymerase zeta reduces the mitochondrial mutability caused by pathological mutations in DNA polymerase gamma in yeast.

Authors:  Enrico Baruffini; Fausta Serafini; Iliana Ferrero; Tiziana Lodi
Journal:  PLoS One       Date:  2012-03-28       Impact factor: 3.240

4.  Dopamine-agonist responsive Parkinsonism in a patient with the SANDO syndrome caused by POLG mutation.

Authors:  Monica Bandettini di Poggio; Claudia Nesti; Claudio Bruno; Maria Chiara Meschini; Angelo Schenone; Filippo M Santorelli
Journal:  BMC Med Genet       Date:  2013-10-07       Impact factor: 2.103
  4 in total

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