Jens Ulrich Regula

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A 33-year-old woman developed exercise-induced limb and trunk dystonia with marked diurnal fluctuations. Treatment with levodopa improved her symptoms considerably but incompletely. Molecular genetic analysis revealed a mutation in GTP cyclohydrolase 1 (GCH1). This report illustrates the variability of Segawa disease and underlines the importance of a(More)
Recently, we discovered a novel serum and cerebrospinal fluid (CSF) autoantibody (anti-Ca) to Purkinje cells in a patient with autoimmune cerebellar ataxia (ACA) and identified the RhoGTPase-activating protein 26 (ARHGAP26; alternative designations include GTPase regulator associated with focal adhesion kinase pp125, GRAF, and oligophrenin-1-like protein,(More)
INTRODUCTION The purpose of this feasibility study was to demonstrate non-invasive metabolic imaging of human muscular atrophy using significant changes of NMR signals that are related directly or indirectly to fiber necrosis. METHODS Single-voxel (1)H NMR spectroscopy and two-dimensional (31)P spectroscopic imaging on a 1.5-T whole-body scanner were used(More)
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