Methods. Subjects. Eleven unrelated patients with the typical appearance of MSL (figure 1)
were seen at the Departments of Neurology or Plastic Surgery, University of Würzburg, from …

Das große Standardwerk zur klinischen Neurologie liegt jetzt unter der Federführung des
international renommierten Herausgeberteams und der Mitarbeit von über 150 …

Die Leberʼsche hereditäre Optikusneuropathie (LHON) betrifft typischerweise junge Erwachsene
mit einer Prädilektion für das männliche Geschlecht, kann letztlich aber in jedem Alter …

In the post-genome era, the mouse will have a major role as a model system for functional
genome analysis. This requires a large number of mutants similar to the collections available …

It has been proposed that two amino acid substitutions in the transcription factor FOXP2 have
been positively selected during human evolution due to effects on aspects of speech and …

Major advances in understanding the pathogenesis of inherited metabolic disease caused by
mitochondrial DNA mutations have yet to translate into treatments of proven efficacy. Leber’…

Here we show that in substantia nigra neurons from both aged controls and individuals with
Parkinson disease, there is a high level of deleted mitochondrial DNA (mtDNA) (controls, …

Purpose: Epilepsies have a highly heterogeneous background with a strong genetic
contribution. The variety of unspecific and overlapping syndromic and nonsyndromic phenotypes …

Mutations in the cytosine‐5 RNA methyltransferase NSun2 cause microcephaly and other
neurological abnormalities in mice and human. How post‐transcriptional methylation …

Ischemic stroke is the second leading cause of death worldwide. Only one moderately
effective therapy exists, albeit with contraindications that exclude 90% of the patients. This …