Pioneer Factor NeuroD1 Rearranges Transcriptional and Epigenetic Profiles to Execute…

Matsuda et al. report direct neuronal conversion of microglia induced by the expression of a single transcription factor, NeuroD1, which occupies bivalent epigenetic domains for neuronal gene induction. NeuroD1 can also converts microglia…

Longitudinal evaluation of iron concentration and atrophy in the dentate nuclei in friedreich ataxia

Abstract Background Friedreich ataxia is a recessively inherited, progressive neurological disease characterized by impaired mitochondrial iron metabolism. The dentate nuclei of the cerebellum are characteristic sites of neurodegeneration…

Progressive myoclonus epilepsy caused by a gain-of-function KCNA2 mutation

We describe the novel phenotypic features of an adult male patient carrying a p.Arg297Gln (c.890 G > A) mutation of the KCNA2 gene encoding the voltage-gated potassium channel KV1.2. This mutation has been previously reported in patients…

Endovascular Treatment of Cerebral Venous Sinus Thrombosis and Insights into Intracranial…

Cerebral venous sinus thrombosis (CVST) requires anticoagulation to promote vessel recanalization. Current anticoagulation paradigms utilize plasma tests from peripheral venous/arterial samples for therapeutic monitoring. We describe a…

A High Prevalence of Intracranial Stenosis in Patients with Coronary Artery Disease and the…

Background: According to the data from the population-based Rotterdam study, intracranial carotid artery calcification detected by computed tomography is very common and contributed to 75% of all strokes. The aim of the present study was to…