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The m.8344A>G mutation in the MTTK gene, which encodes the mitochondrial transfer RNA for lysine, is traditionally associated with myoclonic epilepsy and ragged-red fibres (MERRF), a multisystemic mitochondrial disease that is characterised by myoclonus, seizures, cerebellar ataxia, and mitochondrial myopathy with ragged-red fibres. We studied the clinical(More)
We report the development of an international registry for Neurodegeneration with Brain Iron Accumulation (NBIA), in the context of TIRCON (Treat Iron-Related Childhood-Onset Neurodegeneration), an EU-FP7 - funded project. This registry aims to combine scattered resources, integrate clinical and scientific knowledge, and generate a rich source for future(More)
Collaboration and data sharing have become core elements of biomedical research. Especially when sensitive data from distributed sources are linked, privacy threats have to be considered. Statistical disclosure control allows the protection of sensitive data by introducing fuzziness. Reduction of data quality, however, needs to be balanced against gains in(More)
Diese Arbeit beschreibt die Architektur eines IT-Systems zur Erfassung und Verwaltung vonP atientendaten undB ioproben in einemd eutschlandweiten Netzwerk,d as im Rahmen des Verbundprojektes mitoNET vomB MBFg efördert wird.A ufgrund der sensiblen Daten liegt einb esonderer Schwerpunkt aufD aten-schutz undI T-Sicherheitsaspekten; u.a. werden kryptographische(More)
BACKGROUND Collaborative collection and sharing of data have become a core element of biomedical research. Typical applications are multi-site registries which collect sensitive person-related data prospectively, often together with biospecimens. To secure these sensitive data, national and international data protection laws and regulations demand the(More)
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