Clinical, morphological, biochemical, imaging and outcome parameters in 21 individuals with mitochondrial maintenance defect related to FBXL4 mutations

Martina Huemer, Daniela Karall, Anna Schossig, Jose E. Abdenur, Fatma Al Jasmi, Caroline Biagosch, Felix Distelmaier, Peter Freisinger, Brett H. Graham, Tobias B. Haack, Natalie Hauser, Jozef Hertecant, Darius Ebrahimi-Fakhari, Vassiliki Konstantopoulou, Karen Leydiker, Charles M. Lourenco, Sabine Scholl-Bürgi, Ekkehard Wilichowski, Nicole I. Wolf, Saskia B. WortmannRobert W. Taylor, Johannes A. Mayr, Penelope E. Bonnen, Wolfgang Sperl, Holger Prokisch, Robert McFarland

Research output: Contribution to journal › Article › peer-review

45 Citations (Scopus)

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Medicine and Dentistry

Biochemistry, Genetics and Molecular Biology

Neuroscience