POLGmutations in Australian patients with mitochondrial disease

Mitochondrial DNA polymerase   mutations: an ever expanding molecular and clinical spectrum

(2011) S. Tang et al.   JOURNAL OF MEDICAL GENETICS

Biochemical analysis of the G517V POLG variant reveals wild-type like activity

(2011) Rajesh Kasiviswanathan et al.   MITOCHONDRION

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

(2010) Joanna D. Stewart et al.   HEPATOLOGY

The clinical diagnosis of POLG disease and other mitochondrial DNA depletion disorders

(2010) Bruce H. Cohen et al.   METHODS

Marked mitochondrial DNA depletion associated with a novel SUCLG1 gene mutation resulting in lethal neonatal acidosis, multi-organ failure, and interrupted aortic arch

(2010) Henry Rivera et al.   MITOCHONDRION

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

Structural Insight into Processive Human Mitochondrial DNA Synthesis and Disease-Related Polymerase Mutations

(2009) Young-Sam Lee et al.   CELL

Disease Mutations in the Human Mitochondrial DNA Polymerase Thumb Subdomain Impart Severe Defects in Mitochondrial DNA Replication

(2009) Rajesh Kasiviswanathan et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Rare Autosomal Dominant POLG1 Mutation in a Family With Metabolic Strokes, Posterior Column Spinal Degeneration, and Multi-Endocrine Disease

(2009) Sarah E. Hopkins et al.   JOURNAL OF CHILD NEUROLOGY

The unfolding clinical spectrum of POLG mutations

(2009) M J Blok et al.   JOURNAL OF MEDICAL GENETICS

ATAXIA WITH OPHTHALMOPLEGIA OR SENSORY NEUROPATHY IS FREQUENTLY CAUSED BY POLG MUTATIONS

(2009) C. Schulte et al.   NEUROLOGY

Juvenile Alpers Disease

(2008) Esko Wiltshire et al.   ARCHIVES OF NEUROLOGY

Depletion of mitochondrial DNA in fibroblast cultures from patients with POLG1 mutations is a consequence of catalytic mutations

(2008) Neil Ashley et al.   HUMAN MOLECULAR GENETICS

Molecular and clinical genetics of mitochondrial diseases due toPOLGmutations

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

155th ENMC workshop: Polymerase gamma and disorders of mitochondrial DNA synthesis, 21–23 September 2007, Naarden, The Netherlands

(2007) Patrick F. Chinnery et al.   NEUROMUSCULAR DISORDERS