Alexander Diers

TL;DR: It is demonstrated that SMARD type 1 (SMARD1) results from mutations in the gene encoding immunoglobulin μ-binding protein 2 (IGHMBP2), the second gene found to be defective in spinal muscular atrophy, and indicates that IGH MBP2 and SMN share common functions important for motor neuron maintenance and integrity in mammals.

TL;DR: It is shown, by a genome-wide linkage scan, that quadrupedal locomotion is a recessive trait linked to chromosome 17p, and has implications for understanding the neural mechanism mediating bipedalism, and, perhaps, the evolution of this unique hominid trait.

TL;DR: A novel compound heterozygous mutation is detected in this region of dysferlin of which one affects the extracellular part of the protein and might explain the unusual phenotype of the patient.

TL;DR: The change in his clinical course from paralysis to rigor and the negative, more specific,Botulinum mouse test with isolated botulinum antitoxins A, B, and E, obtained from nonvaccinated rabbits, disproved the diagnosis of botulism and recovered completely.

TL;DR: It is suggested that genome-wide linkage analysis – based on either SNP mapping or full-genome sequencing – is a very useful tool in prenatal diagnostics of diseases.