Kristl G. Claeys

TL;DR: This study represents a large systematic application of transcriptome sequencing to rare disease diagnosis and highlights its utility for the detection and interpretation of variants missed by current standard diagnostic approaches.

TL;DR: MR responses to a range of visual stimuli indicate that the human IPS contains more functional regions along its anterior-posterior extent than are known in the monkey, and these data support the hypothesis that monkey LIP corresponds to the region of human IPS between DIPSM and POIPS and that a portion of the anterior part of humanIPS is evolutionarily new.

TL;DR: It was shown that factors related to geography have a major influence on clinical phenotype, disease severity, electrophysiological subtype, and outcome of Guillain-Barré syndrome.

TL;DR: This study provides Class II evidence that elevated concentrations of CSF pNfH and NfL can accurately identify patients with ALS and shows an added value as diagnostic biomarkers for ALS, whereas the prognostic value of pNFH andNfL warrants further investigation.

TL;DR: Experiments using patient-derived cell lines suggest haploinsufficiency as the molecular genetic mechanism for classical ALS, which underlines the relevance of intracellular transport processes for ALS, and is important for clinico-genetic diagnosis and counselling.