|
Alpers Syndrome (disorder)
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Mitochondrial DNA depletion syndrome causing liver failure.
|
25129007 |
2014 |
|
Alpers Syndrome (disorder)
|
|
0.800 |
CausalMutation
|
CLINVAR |
Polymerase gamma deficiency (POLG): clinical course in a child with a two stage evolution from infantile myocerebrohepatopathy spectrum to an Alpers syndrome and neuropathological findings of Leigh's encephalopathy.
|
22342071 |
2012 |
|
Alpers Syndrome (disorder)
|
|
0.800 |
CausalMutation
|
CLINVAR |
Sensory neuronopathy in patients harbouring recessive polymerase γ mutations.
|
22189570 |
2012 |
|
Alpers Syndrome (disorder)
|
|
0.800 |
CausalMutation
|
CLINVAR |
Sensory ataxic neuropathy with dysarthria/dysphagia and ophthalmoplegia (SANDO). Two case reports.
|
22616202 |
2011 |
|
Alpers Syndrome (disorder)
|
|
0.800 |
CausalMutation
|
CLINVAR |
Novel POLG splice site mutation and optic atrophy.
|
21670405 |
2011 |
|
Alpers Syndrome (disorder)
|
|
0.800 |
CausalMutation
|
CLINVAR |
Mitochondrial DNA polymerase gamma mutations: an ever expanding molecular and clinical spectrum.
|
21880868 |
2011 |
|
Alpers Syndrome (disorder)
|
|
0.800 |
CausalMutation
|
CLINVAR |
Bowel obstruction in patients with Alpers-Huttenlocher syndrome.
|
22006280 |
2011 |
|
MITOCHONDRIAL DNA DEPLETION SYNDROME 4B (MNGIE TYPE)
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Fatal congenital myopathy and gastrointestinal pseudo-obstruction due to POLG1 mutations.
|
19307547 |
2009 |
|
Alpers Syndrome (disorder)
|
|
0.800 |
CausalMutation
|
CLINVAR |
Disease mutations in the human mitochondrial DNA polymerase thumb subdomain impart severe defects in mitochondrial DNA replication.
|
19478085 |
2009 |
|
Alpers Syndrome (disorder)
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Analysis of mutant DNA polymerase gamma in patients with mitochondrial DNA depletion.
|
18828154 |
2009 |
|
Alpers Syndrome (disorder)
|
|
0.800 |
CausalMutation
|
CLINVAR |
Normal biochemical analysis of the oxidative phosphorylation (OXPHOS) system in a child with POLG mutations: a cautionary note.
|
18500570 |
2008 |
|
Alpers Syndrome (disorder)
|
|
0.800 |
CausalMutation
|
CLINVAR |
Abundance of the POLG disease mutations in Europe, Australia, New Zealand, and the United States explained by single ancient European founders.
|
17426723 |
2007 |
|
Alpers Syndrome (disorder)
|
|
0.800 |
CausalMutation
|
CLINVAR |
Mitochondrial DNA defects in Saccharomyces cerevisiae caused by functional interactions between DNA polymerase gamma mutations associated with disease in human.
|
17980715 |
2007 |
|
Alpers Syndrome (disorder)
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Phenotypic spectrum associated with mutations of the mitochondrial polymerase gamma gene.
|
16621917 |
2006 |
|
PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 1
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Phenotypic spectrum associated with mutations of the mitochondrial polymerase gamma gene.
|
16621917 |
2006 |
|
PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 1
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Association of novel POLG mutations and multiple mitochondrial DNA deletions with variable clinical phenotypes in a Spanish population.
|
16401742 |
2006 |
|
PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 1
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Early-onset familial parkinsonism due to POLG mutations.
|
16634032 |
2006 |
|
Alpers Syndrome (disorder)
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Molecular analysis of ANT1, TWINKLE and POLG in patients with multiple deletions or depletion of mitochondrial DNA by a dHPLC-based assay.
|
16639411 |
2006 |
|
PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 1
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Molecular analysis of ANT1, TWINKLE and POLG in patients with multiple deletions or depletion of mitochondrial DNA by a dHPLC-based assay.
|
16639411 |
2006 |
|
Alpers Syndrome (disorder)
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Infantile hepatocerebral syndromes associated with mutations in the mitochondrial DNA polymerase-gammaA.
|
15689359 |
2005 |
|
PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 1
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Functional defects due to spacer-region mutations of human mitochondrial DNA polymerase in a family with an ataxia-myopathy syndrome.
|
15917273 |
2005 |
|
Alpers Syndrome (disorder)
|
|
0.800 |
CausalMutation
|
CLINVAR |
POLG mutations in Alpers syndrome.
|
16177225 |
2005 |
|
Alpers Syndrome (disorder)
|
|
0.800 |
GeneticVariation
|
UNIPROT |
POLG mutations and Alpers syndrome.
|
15929042 |
2005 |
|
PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 1
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Sequence analysis of familial PEO shows additional mutations associated with the 752C-->T and 3527C-->T changes in the POLG1 gene.
|
15349879 |
2004 |
|
PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 1
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Parkinsonism, premature menopause, and mitochondrial DNA polymerase gamma mutations: clinical and molecular genetic study.
|
15351195 |
2004 |