F. Gekeler

TL;DR: In screening over 14,000 mice for a large number of clinically relevant parameters, 182 mouse mutants are recovered and this mutagenesis screen leads to a significant increase in the number of mouse models available to the scientific community.

TL;DR: One of these genes codes for a predicted transmembrane protein which was expressed in various tissues, including brain and pancreas, and carried loss-of-function mutations in both alleles in Wolfram syndrome patients.

TL;DR: Creatine improved patient mood and led to a smaller dose increase of dopaminergic therapy but had no effect on overall Unified Parkinson's Disease Rating Scale scores or dopamine transporter SPECT.

TL;DR: In this paper, the efficacy and safety of creatine monohydrate in mitochondrial diseases were evaluated in 16 patients with chronic progressive external ophthalmoplegia or mitochondrial myopathy, who were randomized in a crossover design to receive double-blind placebo or 20 g Cr/day for 4 weeks.

TL;DR: In this paper, the authors performed diffusion-weighted magnetic resonance imaging during the aura of a patient with lymphocytic pleocytosis and found no reduction of water diffusion.