Literature DB >> 22084276

POLG-related disorders: defects of the nuclear and mitochondrial genome interaction.

Margherita Milone1, Eduardo E Benarroch, Lee-Jun Wong.   

Abstract

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Year:  2011        PMID： 22084276     DOI： 10.1212/WNL.0b013e318238863a

Source DB:  PubMed          Journal:  Neurology        ISSN： 0028-3878            Impact factor:   9.910


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  8 in total

Review 1.  Challenges of bringing next generation sequencing technologies to clinical molecular diagnostic laboratories.

Authors:  Lee-Jun C Wong
Journal:  Neurotherapeutics       Date:  2013-04       Impact factor: 7.620

2.  Mapping 136 pathogenic mutations into functional modules in human DNA polymerase γ establishes predictive genotype-phenotype correlations for the complete spectrum of POLG syndromes.

Authors:  Gregory A Farnum; Anssi Nurminen; Laurie S Kaguni
Journal:  Biochim Biophys Acta       Date:  2014-02-07

3.  Rare variant of unknown significance in POLG1 and diagnostic dilemma.

Authors:  Pankaj Prasun
Journal:  J Neurol       Date:  2014-09-11       Impact factor: 4.849

4.  Clinical Reasoning: A 58-year-old man with progressive ptosis and walking difficulty.

Authors:  Pei-Hsin Kuo; Raymond Y Lo; Kurenai Tanji; Sheng-Han Kuo
Journal:  Neurology       Date:  2017-07-04       Impact factor: 9.910

Review 5.  Mitochondrial DNA depletion syndromes: review and updates of genetic basis, manifestations, and therapeutic options.

Authors:  Ayman W El-Hattab; Fernando Scaglia
Journal:  Neurotherapeutics       Date:  2013-04       Impact factor: 7.620

6.  Novel biallelic mutations in POLG gene: large deletion and missense variant associated with PEO.

Authors:  Kunqian Ji; Chuanzhu Yan; Yan Lin; Jixiang Du; Wei Wang; Hong Ren; Dandan Zhao; Fuchen Liu; Pengfei Lin; Yuying Zhao
Journal:  Neurol Sci       Date:  2021-06-29       Impact factor: 3.307

7.  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

Review 8.  Mitochondrial quality control and communications with the nucleus are important in maintaining mitochondrial function and cell health.

Authors:  Vassilios N Kotiadis; Michael R Duchen; Laura D Osellame
Journal:  Biochim Biophys Acta       Date:  2013-11-06
  8 in total

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