Characterizing POLG Ataxia: Clinics, Electrophysiology and Imaging

Dystonia in mitochondrial spinocerebellar ataxia and epilepsy syndrome associated with novel recessive POLG mutations

(2011) Claire Hinnell et al.   MOVEMENT DISORDERS

Transcranial Sonography Reveals Cerebellar, Nigral, and Forebrain Abnormalities in Friedreich’s Ataxia

(2011) Matthis Synofzik et al.   Neurodegenerative Diseases

The natural history of spinocerebellar ataxia type 1, 2, 3, and 6: A 2-year follow-up study

(2011) H. Jacobi et al.   NEUROLOGY

Localized cerebral energy failure in DNA polymerase gamma-associated encephalopathy syndromes

(2010) Charalampos Tzoulis et al.   BRAIN

Microglia activation is related to substantia nigra echogenicity

(2010) D. Berg et al.   JOURNAL OF NEURAL TRANSMISSION

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

(2010) Julia Schicks et al.   MOVEMENT DISORDERS

Complex hyperkinetic movement disorders associated with POLG mutations

(2010) Matthis Synofzik et al.   MOVEMENT DISORDERS

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

Molecular and clinical genetics of mitochondrial diseases due toPOLGmutations

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

Mutations in the POLG1 gene are not a relevant cause of cerebellar ataxia in Italy

(2008) C. Cagnoli et al.   JOURNAL OF NEUROLOGY

Transcranial sonography in movement disorders

(2008) Daniela Berg et al.   LANCET NEUROLOGY

Spinocerebellar ataxia types 1, 2, 3, and 6: Disease severity and nonataxia symptoms

(2008) T. Schmitz-Hubsch et al.   NEUROLOGY