Gert Van Goethem

Mutation of POLG is associated with progressive external ophthalmoplegia characterized by mtDNA deletions

Gert Van Goethem, Bart Dermaut, A. Löfgren et al. · Nature Genetics · 2001 · 831 citations

Ocular Disease, Ophthalmology, Genetic Disorder +8

Mitochondrial DNA Polymerase W748S Mutation: A Common Cause of Autosomal Recessive Ataxia with Ancient European Origin

Anna H. Hakonen, Silja Heiskanen, Vesa Juvonen et al. · The American Journal of Human Genetics · 2005 · 305 citations · Full text

Mendelian Disorder, Mitochondrial Function, Genetic Disorder +10

Novel POLG mutations in progressive external ophthalmoplegia mimicking mitochondrial neurogastrointestinal encephalomyopathy

Gert Van Goethem, Marianne Schwartz, Ann Löfgren et al. · European Journal of Human Genetics · 2003 · 160 citations · Full text

Ocular Disease, Ophthalmology, Mitochondrial Neurogastrointestinal Encephalomyopathy +10

Abundance of the POLG disease mutations in Europe, Australia, New Zealand, and the United States explained by single ancient European founders

Anna H. Hakonen, Guido Davidzon, Renato Salemi et al. · European Journal of Human Genetics · 2007 · 81 citations · Full text

Genetic Disorder, Polg Disease Mutations, Genetics +7

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

Vivienne C. M. Neeve, David C. Samuels, Laurence A. Bindoff et al. · Brain · 2012 · 60 citations · Full text

Clinical Symptoms, Genetics, Genetic Epidemiology +27