show help

Chinnery PF

Author page

This page provides a summary of the entries in Polbase associated with this author.

The publication history graph presents the number of publications in Polbase by this author over time.

The polymerase chart indicates which polymerases this author has published on.

Polbase automatically discovers many polymerase papers as they are published. Some relevant papers are not included because the algorithm is designed to reduce background. Please contribute to polbase by adding your missing DNA polymerase papers.

Help icons:

The show help symbol in the upper-right corner of the page links to this help text. The question mark icon is used everywhere to indicate that help is available.

Missing references?

Publications:

Title Authors Year Journal
Novel POLG1 mutations associated with neuromuscular and liver phenotypes in adults and children. Chinnery PF 2009 Journal of medical genetics
POLG1 mutations manifesting as autosomal recessive axonal Charcot-Marie-Tooth disease. Chinnery PF 2008 Archives of neurology
Clonally expanded mitochondrial DNA mutations in epileptic individuals with mutated DNA polymerase gamma. Chinnery PF 2008 Journal of neuropathology and experimental neurology
Reversible valproate hepatotoxicity due to mutations in mitochondrial DNA polymerase gamma (POLG1). Chinnery PF 2008 Archives of disease in childhood
Mutation of the linker region of the polymerase gamma-1 (POLG1) gene associated with progressive external ophthalmoplegia and Parkinsonism. Chinnery PF 2007 Archives of neurology
POLG1, C10ORF2, and ANT1 mutations are uncommon in sporadic progressive external ophthalmoplegia with multiple mitochondrial DNA deletions. Chinnery PF 2006 Neurology
Mitochondrial DNA polymerase-gamma and human disease. Chinnery PF 2006 Hum Mol Genet
Phenotypic spectrum associated with mutations of the mitochondrial polymerase gamma gene. Chinnery PF 2006 Brain : a journal of neurology
POLG1 in idiopathic Parkinson disease. Chinnery PF 2006 Neurology
Mutant POLG2 disrupts DNA polymerase gamma subunits and causes progressive external ophthalmoplegia. Chinnery PF 2006 Am J Hum Genet
Mutations of ANT1, Twinkle, and POLG1 in sporadic progressive external ophthalmoplegia (PEO). Chinnery PF 2003 Neurology

Version:20241007

Using Polbase tables:

Sorting:

Tables may be sorted by clicking on any of the column titles. A second click reverses the sort order. <Ctrl> + click on the column titles to sort by more than one column (e.g. family then name).

Filtering:

It is also possible to filter the table by typing into the search box above the table. This will instantly hide lines from the table that do not contain your search text.