Author
Emma KinderziekenhuisORCID 0000-0003-1721-0728Unclaimed ORCID profile · follow to get notified of new preprints
3 papers
Recent·Most cited
Woutje M. Berdowski, Herma C. van der Linde, Nicole I. Wolf, Tjakko J. van Ham
This study shows that TMEM106B affects myelination through a TFEB-dependent pathway in zebrafish, and TFEB inhibition rescues myelin defects caused by TMEM106B mutations.
Stephanie Dooves, Liza Martha Linda Kok, Dwayne B. Holmes…·Vivi Majella Heine
This study investigates how 4H leukodystrophy mutations affect cortical interneuron development using induced pluripotent stem cells and finds reduced GABAergic synapses and altered interneuron markers.
Huifang Yan, Guy Helman, Swetha E. Murthy…·Nicole I. Wolf
This study identifies heterozygous TMEM63A variants causing transient hypomyelination in infancy, with clinical improvement over time.