|
Ataxia, Sensory
|
|
0.700 |
CausalMutation
|
CLINVAR |
Improved diagnostic yield compared with targeted gene sequencing panels suggests a role for whole-genome sequencing as a first-tier genetic test.
|
28771251 |
2018 |
|
Ataxia, Sensory
|
|
0.700 |
CausalMutation
|
CLINVAR |
The adjunctive application of transcranial direct current stimulation in the management of de novo refractory epilepsia partialis continua in adolescent-onset POLG-related mitochondrial disease.
|
29588995 |
2018 |
|
Ataxia, Sensory
|
|
0.700 |
CausalMutation
|
CLINVAR |
Enrichment of deleterious variants of mitochondrial DNA polymerase gene (POLG1) in bipolar disorder.
|
27987238 |
2017 |
|
Ataxia, Sensory
|
|
0.700 |
CausalMutation
|
CLINVAR |
The spectrum of epilepsy caused by POLG mutations.
|
26104464 |
2016 |
|
Ataxia, Sensory
|
|
0.700 |
CausalMutation
|
CLINVAR |
A Clinical, Neuropathological and Genetic Study of Homozygous A467T POLG-Related Mitochondrial Disease.
|
26735972 |
2016 |
|
Ataxia, Sensory
|
|
0.700 |
CausalMutation
|
CLINVAR |
Cranial nerve and cervical root enhancement in an infant with polymerase gamma mutation mitochondrial disease.
|
25286830 |
2014 |
|
Ataxia, Sensory
|
|
0.700 |
CausalMutation
|
CLINVAR |
Valproic acid triggers increased mitochondrial biogenesis in POLG-deficient fibroblasts.
|
24725338 |
2014 |
|
Ataxia, Sensory
|
|
0.700 |
CausalMutation
|
CLINVAR |
Abnormalities in glycogen metabolism in a patient with alpers' syndrome presenting with hypoglycemia.
|
24272679 |
2014 |
|
Ataxia, Sensory
|
|
0.700 |
CausalMutation
|
CLINVAR |
POLG mutation presenting with late-onset jerky torticollis.
|
23212759 |
2013 |
|
Ataxia, Sensory
|
|
0.700 |
CausalMutation
|
CLINVAR |
An informatics approach to analyzing the incidentalome.
|
22995991 |
2013 |
|
Ataxia, Sensory
|
|
0.700 |
CausalMutation
|
CLINVAR |
Prospective study of POLG mutations presenting in children with intractable epilepsy: prevalence and clinical features.
|
23448099 |
2013 |
|
Ataxia, Sensory
|
|
0.700 |
CausalMutation
|
CLINVAR |
Reduced mitochondrial DNA content and heterozygous nuclear gene mutations in patients with acute liver failure.
|
23783014 |
2013 |
|
Ataxia, Sensory
|
|
0.700 |
CausalMutation
|
CLINVAR |
Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE)-like phenotype: an expanded clinical spectrum of POLG1 mutations.
|
21993618 |
2012 |
|
Ataxia, Sensory
|
|
0.700 |
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 |
|
Ataxia, Sensory
|
|
0.700 |
CausalMutation
|
CLINVAR |
MELAS/SANDO overlap syndrome associated with POLG1 mutations.
|
21647632 |
2012 |
|
Ataxia, Sensory
|
|
0.700 |
CausalMutation
|
CLINVAR |
Early-onset ataxia with progressive external ophthalmoplegia associated with POLG mutation: autosomal recessive mitochondrial ataxic syndrome or SANDO?
|
22931735 |
2012 |
|
Ataxia, Sensory
|
|
0.700 |
CausalMutation
|
CLINVAR |
Sensory neuronopathy in patients harbouring recessive polymerase γ mutations.
|
22189570 |
2012 |
|
Ataxia, Sensory
|
|
0.700 |
CausalMutation
|
CLINVAR |
Parieto-occipital lobe epilepsy caused by a POLG1 compound heterozygous A467T/W748S genotype.
|
21515089 |
2011 |
|
Ataxia, Sensory
|
|
0.700 |
CausalMutation
|
CLINVAR |
Mitochondrial DNA depletion and fatal infantile hepatic failure due to mutations in the mitochondrial polymerase γ (POLG) gene: a combined morphological/enzyme histochemical and immunocytochemical/biochemical and molecular genetic study.
|
19538466 |
2011 |
|
Ataxia, Sensory
|
|
0.700 |
CausalMutation
|
CLINVAR |
Bowel obstruction in patients with Alpers-Huttenlocher syndrome.
|
22006280 |
2011 |
|
Ataxia, Sensory
|
|
0.700 |
CausalMutation
|
CLINVAR |
POLG exon 22 skipping induced by different mechanisms in two unrelated cases of Alpers syndrome.
|
20691285 |
2011 |
|
Ataxia, Sensory
|
|
0.700 |
CausalMutation
|
CLINVAR |
Stroke and Stroke-Like Symptoms in Patients with Mutations in the POLG1 Gene.
|
23430834 |
2011 |
|
Ataxia, Sensory
|
|
0.700 |
CausalMutation
|
CLINVAR |
Molecular and biochemical characterisation of a novel mutation in POLG associated with Alpers syndrome.
|
21235791 |
2011 |
|
Ataxia, Sensory
|
|
0.700 |
CausalMutation
|
CLINVAR |
Sensory ataxic neuropathy with dysarthria/dysphagia and ophthalmoplegia (SANDO). Two case reports.
|
22616202 |
2011 |
|
Ataxia, Sensory
|
|
0.700 |
CausalMutation
|
CLINVAR |
Two siblings who developed fifth-decade-onset, concurrent progressive sensory ataxia, dysarthria, and ophthalmoparesis were found to be homozygous for the p.A467T mutation of the polymerase gamma (POLG) gene.
|
19813183 |
2010 |