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Biotin-Responsive Basal Ganglia Disease: A Treatable Differential Diagnosis of Leigh Syndrome

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  1. Article

    Open Access

    Clinical implementation of RNA sequencing for Mendelian disease diagnostics

    Lack of functional evidence hampers variant interpretation, leaving a large proportion of individuals with a suspected Mendelian disorder without genetic diagnosis after whole genome or whole exome sequencing ...

    Vicente A. Yépez, Mirjana Gusic, Robert Kopajtich, Christian Mertes… in Genome Medicine (2022)

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  2. Article

    Open Access

    Correction to: The antioxidant Trolox restores mitochondrial membrane potential and Ca2+-stimulated ATP production in human complex I deficiency

    A Correction to this paper has been published: https://doi.org/10.1007/s00109-021-02057-3

    Felix Distelmaier, Henk-Jan Visch, Jan A. M. Smeitink… in Journal of Molecular Medicine (2021)

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  3. Article

    Open Access

    The antioxidant Trolox restores mitochondrial membrane potential and Ca2+-stimulated ATP production in human complex I deficiency

    Malfunction of mitochondrial complex I caused by nuclear gene mutations causes early-onset neurodegenerative diseases. Previous work using cultured fibroblasts of complex-I-deficient patients revealed elevated...

    Felix Distelmaier, Henk-Jan Visch, Jan A. M. Smeitink… in Journal of Molecular Medicine (2009)

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