A. Löfgren

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

The Thr124Met mutation in the peripheral myelin protein zero (MPZ) gene is associated with a clinically distinct Charcot–Marie–Tooth phenotype

Peter De Jonghe, Vincent Timmerman, C. Ceuterick et al. · Brain · 1999 · 221 citations · Full text

Novel missense mutation in the early growth response 2 gene associated with Dejerine–Sottas syndrome phenotype

Vincent Timmerman, Peter De Jonghe, C. Ceuterick et al. · Neurology · 1999 · 153 citations

Gene dosage imbalances in patients with 46,XY gonadal DSD detected by an in‐house‐designed synthetic probe set for multiplex ligation‐dependent probe amplification analysis

Michela Barbaro, Alessandro Cicognani, Antonio Balsamo et al. · Clinical Genetics · 2008 · 82 citations

Spermatogenesis, Multiplex Technology, Genetic Testing +20