Characterizing POLG Ataxia: Clinics, Electrophysiology and Imaging
Author:
Publisher
Springer Science and Business Media LLC
Subject
Clinical Neurology,Neurology
Link
http://link.springer.com/content/pdf/10.1007/s12311-012-0378-2.pdf
Reference27 articles.
1. Fogel BL, Perlman S. Clinical features and molecular genetics of autosomal recessive cerebellar ataxias. Lancet Neurol. 2007;6(3):245–57.
2. Palau F, Espinos C. Autosomal recessive cerebellar ataxias. Orphanet J Rare Dis. 2006;1:47.
3. Schicks J, Synofzik M, Schulte C, Schols L. POLG, but not PEO1, is a frequent cause of cerebellar ataxia in Central Europe. Mov Disord. 2010;25(15):2678–82.
4. Hakonen AH, Heiskanen S, Juvonen V, Lappalainen I, Luoma PT, Rantamaki M, et al. Mitochondrial DNA polymerase W748S mutation: a common cause of autosomal recessive ataxia with ancient European origin. Am J Hum Genet. 2005;77(3):430–41.
5. Lee YC, Lu YC, Chang MH, Soong BW. Common mitochondrial DNA and POLG1 mutations are rare in the Chinese patients with adult-onset ataxia on Taiwan. J Neurol Sci. 2007;254(1–2):65–8.
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