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Browsing Documents OpenAIRE (Open Access Infrastructure for Research in Europe) by Author "Wilke, Carlo"

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Solving unsolved rare neurological diseases-a Solve-RD viewpoint

Matalonga, Leslie; Timmann, Dagmar; Erasmus, Corrie E.; Reichbauer, Jennifer; Wayand, Melanie; Solve-RD-DITF-RND; van de Warrenburg, Bart; Schöls, Ludger; Wilke, Carlo; Bevot, Andrea; Zuchner, Stephan; Beltran, Sergi; Laurie, Steven, 1973-; Matalonga, Leslie; Graessner, Holm; Synofzik, Matthis; Solve-RD Consortium (Springer Nature, 2021)

Rare genetic neurological disorders (RND; ORPHA:71859) are a heterogeneous group of disorders comprising >1700 distinct genetic disease entities. However, genetic discoveries have not yet translated into dramatic increases ...

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