van Ham, Tjakko J.

Top Publications

Top Publications Authored or Co-Authored by "van Ham, Tjakko J."

• Loss of UGP2 in brain leads to a severe epileptic encephalopathy, emphasizing that bi-allelic isoform-specific start-loss mutations of essential genes can cause genetic diseases

  Acta Neuropathologica, Volume 139, No. 3, Year 2020, Citations 69
• Bi-allelic variants in HOPS complex subunit VPS41 cause cerebellar ataxia and abnormal membrane trafficking

  Brain, Volume 144, No. 3, Year 2021, Citations 56
• AMFR dysfunction causes autosomal recessive spastic paraplegia in human that is amenable to statin treatment in a preclinical model

  Acta Neuropathologica, Volume 146, No. 2, Year 2023, Citations 52
• CLEC16A interacts with retromer and TRIM27, and its loss impairs endosomal trafficking and neurodevelopment

  Human Genetics, Volume 142, No. 3, Year 2023, Citations 12