Literature DB >> 25209855

Rare variant of unknown significance in POLG1 and diagnostic dilemma.

Pankaj Prasun1.   

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Year:  2014        PMID： 25209855     DOI： 10.1007/s00415-014-7493-6

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


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  15 in total

Review 1.  POLG-related disorders: defects of the nuclear and mitochondrial genome interaction.

Authors:  Margherita Milone; Eduardo E Benarroch; Lee-Jun Wong
Journal:  Neurology       Date:  2011-11-15       Impact factor: 9.910

2.  Mitochondrial DNA polymerase gamma mutations: an ever expanding molecular and clinical spectrum.

Authors:  Sha Tang; Jing Wang; Ni-Chung Lee; Margherita Milone; Michelle C Halberg; Eric S Schmitt; William J Craigen; Wei Zhang; Lee-Jun C Wong
Journal:  J Med Genet       Date:  2011-08-31       Impact factor: 6.318

3.  Transition to next generation analysis of the whole mitochondrial genome: a summary of molecular defects.

Authors:  Sha Tang; Jing Wang; Victor Wei Zhang; Fang-Yuan Li; Megan Landsverk; Hong Cui; Cavatina K Truong; Guoli Wang; Li Chieh Chen; Brett Graham; Fernando Scaglia; Eric S Schmitt; William J Craigen; Lee-Jun C Wong
Journal:  Hum Mutat       Date:  2013-04-02       Impact factor: 4.878

4.  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

5.  Association of novel POLG mutations and multiple mitochondrial DNA deletions with variable clinical phenotypes in a Spanish population.

Authors:  Emiliano González-Vioque; Alberto Blázquez; Daniel Fernández-Moreira; Belén Bornstein; Juan Bautista; Javier Arpa; Carmen Navarro; Yolanda Campos; Miguel A Fernández-Moreno; Rafael Garesse; Joaquin Arenas; Miguel A Martín
Journal:  Arch Neurol       Date:  2006-01

6.  Sensory ataxic neuropathy with ophthalmoparesis caused by POLG mutations.

Authors:  Margherita Milone; Nicola Brunetti-Pierri; Lin-Ya Tang; Neeraj Kumar; Michelle M Mezei; Keith Josephs; Suzanne Powell; Ericka Simpson; Lee-Jun C Wong
Journal:  Neuromuscul Disord       Date:  2008-06-27       Impact factor: 4.296

7.  Predicting functional effect of human missense mutations using PolyPhen-2.

Authors:  Ivan Adzhubei; Daniel M Jordan; Shamil R Sunyaev
Journal:  Curr Protoc Hum Genet       Date:  2013-01

Review 8.  The in-depth evaluation of suspected mitochondrial disease.

Authors:  Richard H Haas; Sumit Parikh; Marni J Falk; Russell P Saneto; Nicole I Wolf; Niklas Darin; Lee-Jun Wong; Bruce H Cohen; Robert K Naviaux
Journal:  Mol Genet Metab       Date:  2008-02-01       Impact factor: 4.797

9.  Isolated distal myopathy of the upper limbs associated with mitochondrial DNA depletion and polymerase gamma mutations.

Authors:  Carla Giordano; Floriana Pichiorri; Emma L Blakely; Elena Perli; Maurizia Orlandi; Pietro Gallo; Robert W Taylor; Maurizio Inghilleri; Giulia d'Amati
Journal:  Arch Neurol       Date:  2010-09

10.  Molecular and biochemical characterisation of a novel mutation in POLG associated with Alpers syndrome.

Authors:  André Schaller; Dagmar Hahn; Christopher B Jackson; Ilse Kern; Christophe Chardot; Dominique C Belli; Sabina Gallati; Jean-Marc Nuoffer
Journal:  BMC Neurol       Date:  2011-01-14       Impact factor: 2.474
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