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Literature DB >> 19752458

Ataxia with ophthalmoplegia or sensory neuropathy is frequently caused by POLG mutations.

Claudia Schulte¹, Matthis Synofzik, Thomas Gasser, Ludger Schöls.

Abstract

Entities: Disease Gene Mutation

Mesh：

Substances：

Year: 2009 PMID： 19752458 DOI： 10.1212/WNL.0b013e3181b78488

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

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Cited

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16 in total

1. Novel POLG mutations and variable clinical phenotypes in 13 Italian patients.

Authors: Paola Da Pozzo; Elena Cardaioli; Anna Rubegni; Gian Nicola Gallus; Alessandro Malandrini; Alessandra Rufa; Carla Battisti; Maria Alessandra Carluccio; Raffaele Rocchi; Fabio Giannini; Amedeo Bianchi; Michelangelo Mancuso; Gabriele Siciliano; Maria Teresa Dotti; Antonio Federico
Journal: Neurol Sci Date: 2017-01-27 Impact factor: 3.307

Review 2. Mitochondrial deficiency in Cockayne syndrome.

Authors: Morten Scheibye-Knudsen; Deborah L Croteau; Vilhelm A Bohr
Journal: Mech Ageing Dev Date: 2013-02-19 Impact factor: 5.432

3. Characteristic brain MRI findings in ataxia-neuropathy spectrum related to POLG mutation.

Authors: Adriana I Henao; Sonia Pira; Diego A Herrera; Sergio A Vargas; Jorge Montoya; Mauricio Castillo
Journal: Neuroradiol J Date: 2016-01-11

Review 4. Inherited mitochondrial genomic instability and chemical exposures.

Authors: Sherine S L Chan
Journal: Toxicology Date: 2017-07-26 Impact factor: 4.221

5. Biochemical analysis of the G517V POLG variant reveals wild-type like activity.

Authors: Rajesh Kasiviswanathan; William C Copeland
Journal: Mitochondrion Date: 2011-08-11 Impact factor: 4.160

6. Characterizing POLG ataxia: clinics, electrophysiology and imaging.

Authors: Matthis Synofzik; Karin Srulijes; Jana Godau; Daniela Berg; Ludger Schöls
Journal: Cerebellum Date: 2012-12 Impact factor: 3.847

7. Mutations in human DNA polymerase γ confer unique mechanisms of catalytic deficiency that mirror the disease severity in mitochondrial disorder patients.

Authors: Christal D Sohl; Rajesh Kasiviswanathan; William C Copeland; Karen S Anderson
Journal: Hum Mol Genet Date: 2012-12-03 Impact factor: 6.150