Ulrike Reuner

Clinical and molecular genetic spectrum of autosomal dominant Emery-Dreifuss muscular dystrophy due to mutations of the lamin A/C gene

Gisèle Bonne, Eugenio Mercuri, Antoine Muchir et al. · Annals of Neurology · 2000 · 486 citations

Cardiac Muscle, Engineering, Genetics +23

Myokymia and neonatal epilepsy caused by a mutation in the voltage sensor of the KCNQ2 K ⁺ channel

Karin Dedek, B Kunath, Colette Kananura et al. · Proceedings of the National Academy of Sciences · 2001 · 251 citations · Full text

Efficacy and Safety of Oral Chelators in Treatment of Patients With Wilson Disease

Karl Heinz Weiss, Florentine F. Thurik, Daniel Gotthardt et al. · Clinical Gastroenterology and Hepatology · 2013 · 241 citations

Pharmacology, Wilson Disease, Pharmacotherapy +3

Late-onset metachromatic leukodystrophy

Helmut Rauschka, Benoît Colsch, Nicole Baumann et al. · Neurology · 2006 · 114 citations

Evaluation of the Unified Wilson's Disease Rating Scale (UWDRS) in German patients with treated Wilson's disease

Barbara Leinweber, Jens Carsten Möller, André Scherag et al. · Movement Disorders · 2007 · 109 citations