Peter Bauer

TL;DR: This work uses mitochondrial genome sequences from ten securely dated ancient modern humans spanning 40,000 years as calibration points for the mitochondrial clock, thus yielding a direct estimate of the mitochondrial substitution rate and implies a separation of non-Africans from the most closely related sub-Saharan African mitochondrial DNAs that occurred less than 62-95 kya.

TL;DR: Measuring repeat serum creatinine concentrations within 48 hrs and determining &Dgr;Crea were the most effective discrimination method to find patients at risk for adverse postoperative outcome after cardiac surgery, better than application of this sole criterion to the RIFLE (least discriminatory) or the AKIN classification.

TL;DR: Preclinical SCA1 and SCA2 mutation carriers seem to have mild coordination deficits and abnormalities in the brain that are more common in carriers who are closer to the estimated onset of ataxia.

TL;DR: It is demonstrated that each feature of the classical ARSACS triad might be missing in ARSacS, and characteristic MRI features – which also extend to supratentorial regions and involve the cerebral cortex – will help to establish the diagnosis in most cases.

TL;DR: Advances in mass spectrometry has allowed identification of several sensitive plasma biomarkers elevated in NP-C, which, together with the concomitant progress in molecular genetic technology, have greatly impacted the strategy of laboratory testing.