Ausgabe Sonderheft 2/2014
Addressing diagnostic challenges in Niemann-Pick disease type C
Inhalt (5 Artikel)
Open Access
Introduction
Niemann–Pick disease type C: introduction and main clinical features
A. Burlina
Open Access
Review
The genetics of ataxia: through the labyrinth of the Minotaur, looking for Ariadne’s thread
M. Mancuso, D. Orsucci, G. Siciliano, U. Bonuccelli
Open Access
Review
Central ocular motor disorders, including gaze palsy and nystagmus
M. Strupp, O. Kremmyda, C. Adamczyk, N. Böttcher, C. Muth, C. W. Yip, T. Bremova
Open Access
Review
Genetic and laboratory diagnostic approach in Niemann Pick disease type C
K. McKay Bounford, P. Gissen