Homozygous TBC1 domain-containing kinase (TBCK) mutation causes a novel lysosomal storage disease – a new type of neuronal ceroid lipofuscinosis (CLN15)?
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M. Sturm | O. Riess | R. Buchert | H. Mennel | A. Pagenstecher | K. Harzer | S. Beck-Wödl | E. Latta | U. Keber | O. Riess