B. Finckh

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Parkin and the glial cell line-derived neurotrophic factor (GDNF) receptor RET have both been independently linked to the dopaminergic neuron degeneration that underlies Parkinson's disease (PD). In the present study, we demonstrate that there is genetic crosstalk between parkin and the receptor tyrosine kinase RET in two different mouse models of PD. Mice(More)
We report on a 25-year-old patient with isolated mitochondrial complex III deficiency and a new heteroplasmic mutation (T14849C) in the cytochrome b gene. He suffered from septo-optic dysplasia, retinitis pigmentosa, exercise intolerance, hypertrophic cardiomyopathy, and rhabdomyolysis. A HESX1 mutation was excluded as a cause of his septo-optic dysplasia.(More)
AIMS Non-compaction of the left ventricular myocardium (NCVM) is reportedly exceedingly rare and associated with a high morbidity and mortality. A different genetic background has been suggested for NCVM with [non-isolated NCVM (ni-NCVM)] and without [isolated NCVM (i-NCVM)] other congenital heart defects. We prospectively evaluated both the NCVM subgroups(More)
Patients with ␣-tocopherol transfer protein (␣-TTP) defects experience neurological symptoms characteristic of vitamin E deficiency and depend on continuous high ␣-tocopherol supplements. We investigated the excretion of 2,5,7,8-tetramethyl-2(2 ؅-carboxyethyl)-6-hydroxychro-man (␣-CEHC), a urinary metabolite of ␣-tocopherol, as a pu-tative marker for the(More)
To prevent neuronal damage, patients with ataxia with isolated vitamin E deficiency need lifelong supplementation with high doses of vitamin E. Short interruptions of therapy, such as occur in malcompliance, do not lead to clinical symptoms. However, the authors show that even short withdrawals may cause a prolonged decrease of the total radical trapping(More)
The purpose of this experiment was to test a computational model of reinforcement learning with and without fictive prediction error (FPE) signals to investigate how counterfactual consequences contribute to acquired representations of action-specific expected value, and to determine the functional neuroanatomy and neuromodulator systems that are involved.(More)
Learning of associations between aversive stimuli and predictive cues is the basis of Pavlovian fear conditioning and is driven by a mismatch between expectation and outcome. To investigate whether serotonin modulates the formation of such aversive cue-outcome associations, we used functional magnetic resonance imaging (fMRI) and dietary tryptophan(More)
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