Identification of two compound heterozygous VPS13A large deletions in chorea‐acanthocytosis only by protein and quantitative DNA analysis

by Derek Spieler, Antonio Velayos‐Baeza, Alžbeta Mühlbäck, Florian Castrop, Christian Maegerlein, Julia Slotta‐Huspenina, Benedikt Bader, Bernhard Haslinger, Adrian Danek
Published 2020-09-01

Enroll-HD: An Integrated Clinical Research Platform and Worldwide Observational Study for Huntington's Disease

by Swati Sathe, Jen Ware, Jamie Levey, Eileen Neacy, Robi Blumenstein, Simon Noble, Alzbeta Mühlbäck, Anne Rosser, Anne Rosser, Anne Rosser, G. Bernhard Landwehrmeyer, Cristina Sampaio
Published 2021-08-01

Study Protocol for the Development of a European eHealth Platform to Improve Quality of Life in Individuals With Huntington's Disease and Their Partners (HD-eHelp Study): A User-Ce...

by Pearl J. C. van Lonkhuizen, Pearl J. C. van Lonkhuizen, Pearl J. C. van Lonkhuizen, Niko J. H. Vegt, Niko J. H. Vegt, Eline Meijer, Eline Meijer, Erik van Duijn, Erik van Duijn, Susanne T. de Bot, Jiří Klempíř, Wiebke Frank, G. Bernhard Landwehrmeyer, Alzbeta Mühlbäck, Jennifer Hoblyn, Ferdinando Squitieri, Peter Foley, Niels H. Chavannes, Niels H. Chavannes, Anne-Wil Heemskerk, Anne-Wil Heemskerk
Published 2021-09-01