A Clinical, Neuropathological and Genetic Study of Homozygous A467T POLG-Related Mitochondrial Disease

International consensus classification of hippocampal sclerosis in temporal lobe epilepsy: A Task Force report from the ILAE Commission on Diagnostic Methods

(2013) Ingmar Blümcke et al.   EPILEPSIA

Clinical and Molecular Features of POLG-Related Mitochondrial Disease

(2013) J. D. Stumpf et al.   Cold Spring Harbor Perspectives in Biology

What is influencing the phenotype of the common homozygous polymerase-γ mutation p.Ala467Thr?

(2012) Vivienne C. M. Neeve et al.   BRAIN

Distal myopathy with cachexia: an unrecognised phenotype caused by dominantly-inherited mitochondrial polymerase γ mutations

(2012) Robert D S Pitceathly et al.   JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY

Hearing in 44–45 year olds with m.1555A>G, a genetic mutation predisposing to aminoglycoside-induced deafness: a population based cohort study

(2012) Shamima Rahman et al.   BMJ Open

Mitochondrial genome sequence analysis: A custom bioinformatics pipeline substantially improves Affymetrix MitoChip v2.0 call rate and accuracy

(2011) Hongbo M Xie et al.   BMC BIOINFORMATICS

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

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

Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE)-like phenotype: an expanded clinical spectrum of POLG1 mutations

(2011) Sha Tang et al.   JOURNAL OF NEUROLOGY

Clustering of Alpers disease mutations and catalytic defects in biochemical variants reveal new features of molecular mechanism of the human mitochondrial replicase, Pol γ

(2011) Liliya Euro et al.   NUCLEIC ACIDS RESEARCH

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

(2009) Young-Sam Lee et al.   CELL

Clinical and molecular features of mitochondrial DNA depletion syndromes

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

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

POLG1 mutations cause a syndromic epilepsy with occipital lobe predilection

(2008) B. A. Engelsen et al.   BRAIN