Author
Maastricht UniversityORCID 0000-0003-3859-8522Unclaimed ORCID profile · follow to get notified of new preprints
Mutual co-authors in cluster
4 papers
Recent·Most cited
Clara Rubio, Milena Ślęczkowska, Enric Pisa…·Núria Comes
The paper identifies a frameshift mutation in KCNK18 causing TRESK dysfunction, linking it to neuropathic pain through haploinsufficiency and altered channel function.
Joke Mertens, Florence Belva, Aafke P.A. van Montfoort…·Claudia Spits
The paper identifies mtDNA variants in ART and spontaneously conceived individuals linked to lower birth weight, showing sex-dependent effects and maternal aging influences.
Roy A.M. Haast, I.F.M. de Coo, Dimo Ivanov…·Kâmil Uludaǧ
This study examines neurodegenerative and functional changes in the cerebellar cortex of m.3243A>G patients using MRI, revealing structural and connectivity alterations linked to cognitive deficits.
Auke B.C. Otten, Rick Kamps, Patrick J. Lindsey…·Hubert J.M. Smeets
This study shows that reducing Tfam in zebrafish embryos decreases mtDNA copy numbers, causes OXPHOS deficiency, and leads to developmental abnormalities.