H-ABC– and dystonia-causing TUBB4A mutations show distinct pathogenic effects

Krajka V, Vulinovic F, Genova M, Tanzer K, Jijumon AS, Bodakuntla S, Tennstedt S, Mueller-Fielitz H, Meier B, Janke C, Klein C, Rakovic A

Sci. Adv. 8, eabj9229 (2022)

https://www.science.org/doi/epdf/10.1126/sciadv.abj9229