相关参考文献
注意：仅列出部分参考文献，下载原文获取全部文献信息。Clinical and Molecular Features of POLG-Related Mitochondrial Disease
Jeffrey D. Stumpf et al.
COLD SPRING HARBOR PERSPECTIVES IN BIOLOGY (2013)
Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE)-like phenotype: an expanded clinical spectrum of POLG1 mutations
Sha Tang et al.
JOURNAL OF NEUROLOGY (2012)
Mitochondrial Syndromes with Leukoencephalopathies
Lee-Jun C. Wong
SEMINARS IN NEUROLOGY (2012)
Echaniz-Laguna A, Chassagne M, de Seze J, Mohr M, Clerc-Renaud P, Tranchant C, Mousson de Camaret B. POLG1 Variations Presenting as Multiple Sclerosis. Arch Neurol. 2010;67:1140-1143. doi:10.1001/archneurol.2010.219.
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JOURNAL OF NEURO-OPHTHALMOLOGY (2011)
Mitochondrial Neurogastrointestinal Encephalopathy Due to Mutations in RRM2B
Aziz Shaibani et al.
ARCHIVES OF NEUROLOGY (2009)
Multisystem manifestations of mitochondrial disorders
Stefano Di Donato
JOURNAL OF NEUROLOGY (2009)
Expression of catalytic mutants of the mtDNA helicase Twinkle and polymerase POLG causes distinct replication stalling phenotypes
Sjoerd Wanrooij et al.
NUCLEIC ACIDS RESEARCH (2007)
Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE): A disease of two genomes
M Hirano et al.
NEUROLOGIST (2004)
Novel POLG mutations in progressive external ophthalmoplegia mimicking mitochondrial neurogastrointestinal encephalomyopathy
G Van Goethem et al.
EUROPEAN JOURNAL OF HUMAN GENETICS (2003)
In vivo functional analysis of the human mitochondrial DNA polymerase POLG expressed in cultured human cells
JN Spelbrink et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2000)
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