POLG, but notPEO1, is a frequent cause of cerebellar ataxia in Central Europe

Finding twinkle in the eyes of a 71-year-old lady: A case report and review of the genotypic and phenotypic spectrum of TWINKLE-related dominant disease

(2009) Johan L.K. Van Hove et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Recessive twinkle mutations cause severe epileptic encephalopathy

(2009) T. Lonnqvist et al.   BRAIN

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

Molecular and clinical genetics of mitochondrial diseases due toPOLGmutations

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

Novel Twinkle (PEO1) gene mutations in mendelian progressive external ophthalmoplegia

(2008) R. Virgilio et al.   JOURNAL OF NEUROLOGY