A. Herzog

Update of the pompe disease mutation database with 60 novel GAA sequence variants and additional studies on the functional effect of 34 previously reported variants

S. Marie, W. Robberecht, B. Engelen, 2012, Human mutation.

Investigation of the functional brain-derived neurotrophic factor gene variant Val66MET in migraine

C. Sommer, R. Mössner, M. Marziniak, 2008, Journal of Neural Transmission.

Genotype-Phenotype Correlations in Pompe Disease

H. Runz, E. Mengel, R. Hartung, 2011 .

A cross-sectional single-centre study on the spectrum of Pompe disease, German patients: molecular analysis of the GAA gene, manifestation and genotype-phenotype correlations

H. Runz, N. Karabul, M. Beck, 2012, Orphanet Journal of Rare Diseases.