Abundance of the POLG disease mutations in Europe, Australia, New Zealand, and the United States explained by single ancient European founders.
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Alpers-Huttenlocher syndromeEpilepsy due to mutations in the mitochondrial polymerase gamma (POLG) gene: A clinical and molecular genetic review.Pathogenicity in POLG syndromes: DNA polymerase gamma pathogenicity prediction server and database.Gene expression in a Drosophila model of mitochondrial disease.Functional analysis of H. sapiens DNA polymerase gamma spacer mutation W748S with and without common variant E1143G.Defects of mitochondrial DNA replication.Five mutations of mitochondrial DNA polymerase-gamma (POLG) are not a prevalent etiology for spontaneous 46,XX primary ovarian insufficiencyRecurrent major depression, ataxia, and cardiomyopathy: association with a novel POLG mutation?Respiratory chain complex I deficiency caused by mitochondrial DNA mutations.De novo SCN1A mutations in migrating partial seizures of infancy.Mitochondrial respiratory chain hepatopathies: role of liver transplantation. A case series of five patients.What is influencing the phenotype of the common homozygous polymerase-γ mutation p.Ala467Thr?Epidemiological, clinical and biochemical characterization of the p.(Ala359Asp) SMPD1 variant causing Niemann-Pick disease type B.Mitochondrial disease: genetics and management.Drug-resistant epilepsia and fulminant valproate liver toxicity. Alpers-Huttenlocher syndrome in two children confirmed post mortem by identification of p.W748S mutation in POLG geneAutosomal recessive spastic ataxia of Charlevoix Saguenay (ARSACS): expanding the genetic, clinical and imaging spectrum.Approaches to finding the molecular basis of mitochondrial oxidative phosphorylation disorders.Mitochondrial diseases and epilepsy.The clinical spectrum and natural history of early-onset diseases due to DNA polymerase gamma mutations.Do carriers of POLG mutation W748S have disease manifestations?Asymmetric Ataxia, Depression, Memory Loss, Epilepsy, and Axonal Neuropathy Associated with A Heterozygous DNA Polymerase Gamma Variant of Uncertain Significance, c1370G>a (R457Q).Spinocerebellar ataxia: a rational approach to aetiological diagnosis.
P2860
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P2860
Abundance of the POLG disease mutations in Europe, Australia, New Zealand, and the United States explained by single ancient European founders.
description
2007 nî lūn-bûn
@nan
2007年の論文
@ja
2007年学术文章
@wuu
2007年学术文章
@zh-cn
2007年学术文章
@zh-hans
2007年学术文章
@zh-my
2007年学术文章
@zh-sg
2007年學術文章
@yue
2007年學術文章
@zh
2007年學術文章
@zh-hant
name
Abundance of the POLG disease ...... gle ancient European founders.
@en
Abundance of the POLG disease ...... gle ancient European founders.
@nl
type
label
Abundance of the POLG disease ...... gle ancient European founders.
@en
Abundance of the POLG disease ...... gle ancient European founders.
@nl
prefLabel
Abundance of the POLG disease ...... gle ancient European founders.
@en
Abundance of the POLG disease ...... gle ancient European founders.
@nl
P2093
P2860
P50
P356
P1476
Abundance of the POLG disease ...... gle ancient European founders.
@en
P2093
Anna H Hakonen
Anu Suomalainen
Gert Van Goethem
Renato Salemi
Salvatore Dimauro
P2860
P2888
P304
P356
10.1038/SJ.EJHG.5201831
P577
2007-04-11T00:00:00Z