Affiliation: Paracelsus Hospital
- Novel SCARB2 mutation in action myoclonus-renal failure syndrome and evaluation of SCARB2 mutations in isolated AMRF featuresFranziska Hopfner
Institute of Human Genetics, Helmholtz Zentrum Munchen German Research Center for Environmental Health, Neuherberg, Germany
BMC Neurol 11:134. 2011..To test the hypothesis whether isolated appearance of individual AMRF syndrome features could be related to heterozygote SCARB2 mutations, we screened for SCARB2 mutations in unrelated patients showing isolated AMRF features...
- Restless legs syndrome: pathophysiology, clinical presentation and managementClaudia Trenkwalder
Paracelsus Elena Hospital, Center of Parkinsonism and Movement Disorders, Klinikstrasse 16, 34128 Kassel, Germany
Nat Rev Neurol 6:337-46. 2010..Here, we review the latest studies pertaining to the pathophysiology, clinical presentation and management of RLS...