Acute liver failure after valproate exposure in patients withPOLG1mutations and the prognosis after liver transplantation

Prospective study ofPOLGmutations presenting in children with intractable epilepsy: Prevalence and clinical features

(2013) Johanna Uusimaa et al.   EPILEPSIA

Reduced Mitochondrial DNA Content and Heterozygous Nuclear Gene Mutations in Patients With Acute Liver Failure

(2013) Daniel Helbling et al.   JOURNAL OF PEDIATRIC GASTROENTEROLOGY AND NUTRITION

Mitochondrial DNA Depletion Syndromes: Review and Updates of Genetic Basis, Manifestations, and Therapeutic Options

(2013) Ayman W. El-Hattab et al.   Neurotherapeutics

POLG1 manifestations in childhood

(2011) P. Isohanni et al.   NEUROLOGY

A Novel POLG Gene Mutation in 4 Children With Alpers-like Hepatocerebral Syndromes

(2010) Bulent Kurt et al.   ARCHIVES OF NEUROLOGY

Standardization of nomenclature and causality assessment in drug-induced liver injury: Summary of a clinical research workshop

(2010) Robert J. Fontana et al.   HEPATOLOGY

Polymerase γ Gene POLG determines the risk of sodium valproate-induced liver toxicity

(2010) Joanna D. Stewart et al.   HEPATOLOGY

Valproic Acid-Associated Acute Liver Failure in Children: Case Report and Analysis of Liver Transplantation Outcomes in the United States

(2010) Ayse L. Mindikoglu et al.   JOURNAL OF PEDIATRICS

Polymerase Gamma 1 Mutations

(2010) Margherita Milone et al.   NEUROLOGIST

POLG DNA testing as an emerging standard of care before instituting valproic acid therapy for pediatric seizure disorders

(2010) Russell P. Saneto et al.   SEIZURE-EUROPEAN JOURNAL OF EPILEPSY

Carnitine in the treatment of valproic acid-induced toxicity

(2009) Philippe E.R. Lheureux et al.   CLINICAL TOXICOLOGY

Clinical and molecular features of mitochondrial DNA depletion syndromes

(2009) A. Spinazzola et al.   JOURNAL OF INHERITED METABOLIC DISEASE

DNA extraction procedures meaningfully influence qPCR-based mtDNA copy number determination

(2009) Wen Guo et al.   MITOCHONDRION

Diagnosis of mitochondrial DNA depletion syndromes

(2008) S. Rahman et al.   ARCHIVES OF DISEASE IN CHILDHOOD

DNA polymerase gamma and mitochondrial disease: Understanding the consequence of POLG mutations

(2008) Sherine S.L. Chan et al.   BIOCHIMICA ET BIOPHYSICA ACTA-BIOENERGETICS

POLG1 mutations cause a syndromic epilepsy with occipital lobe predilection

(2008) B. A. Engelsen et al.   BRAIN

Homozygous W748S mutation in thePOLG1gene in patients with juvenile-onset Alpers syndrome and status epilepticus

(2008) Johanna Uusimaa et al.   EPILEPSIA

Status epilepticus in children with Alpers’ disease caused byPOLG1mutations: EEG and MRI features

(2008) Nicole I. Wolf et al.   EPILEPSIA

Analysis of mutant DNA polymerase γ in patients with mitochondrial DNA depletion

(2008) Jan-Willem Taanman et al.   HUMAN MUTATION

Molecular and clinical genetics of mitochondrial diseases due toPOLGmutations

(2008) Lee-Jun C. Wong et al.   HUMAN MUTATION

Rapidly Progressive Neurological Deterioration in a Child with Alpers Syndrome Exhibiting a Previously Unremarkable Brain MRI

(2008) N. Brunetti-Pierri et al.   NEUROPEDIATRICS