Variants in NGLY1 lead to intellectual disability, myoclonus epilepsy, sensorimotor axonal polyneuropathy and mitochondrial dysfunction

Daan M. Panneman, Saskia B. Wortmann, Charlotte A. Haaxma, Peter M. van Hasselt, Nicole I. Wolf, Yvonne Hendriks, Benno Küsters, Sjenet van Emst-de Vries, Els van de Westerlo, Werner J.H. Koopman, Liesbeth Wintjes, Frans van den Brandt, Maaike de Vries, Dirk J. Lefeber, Jan A.M. Smeitink, Richard J. Rodenburg*

*Corresponding author for this work

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

21 Citations (Scopus)

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Biochemistry, Genetics and Molecular Biology